About this Journal Submit a Manuscript Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 928562, 21 pages
http://dx.doi.org/10.1155/2013/928562
Review Article

A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer

Department of Medical Genetics, Tehran University of Medical Sciences, School of Medicine, Tehran, Iran

Received 17 April 2013; Revised 31 July 2013; Accepted 15 August 2013

Academic Editor: Ana Maria Tari

Copyright © 2013 Fatemeh Karami and Parvin Mehdipour. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. D. M. Parkin, F. Bray, J. Ferlay, and P. Pisani, “Global cancer statistics, 2002,” Ca Cancer Journal for Clinicians, vol. 55, no. 2, pp. 74–108, 2005. View at Scopus
  2. A. Sadjadi, M. Nouraie, A. Ghorbani, M. Alimohammadian, and R. Malekzadeh, “Epidemiology of breast cancer in the Islamic Republic of Iran: first results from a population-based cancer registry,” Eastern Mediterranean Health Journal, vol. 15, no. 6, pp. 1426–1431, 2009. View at Scopus
  3. K. M. Kuusisto, A. Bebel, M. Vihinen, J. Schleutker, and S.-L. Sallinen, “Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals,” Breast Cancer Research, vol. 13, no. 1, article R20, 2011. View at Publisher · View at Google Scholar · View at Scopus
  4. J. M. García, J. Silva, C. Peña et al., “Promoter methylation of the PTEN gene is a common molecular change in breast cancer,” Genes Chromosomes and Cancer, vol. 41, no. 2, pp. 117–124, 2004. View at Publisher · View at Google Scholar · View at Scopus
  5. J. Chen and A. Lindblom, “Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p,” Clinical Genetics, vol. 57, no. 5, pp. 394–397, 2000. View at Publisher · View at Google Scholar · View at Scopus
  6. P. A. Steck, M. A. Pershouse, S. A. Jasser et al., “Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers,” Nature Genetics, vol. 15, no. 4, pp. 356–362, 1997. View at Publisher · View at Google Scholar · View at Scopus
  7. K. A. Schrader, S. Masciari, N. Boyd et al., “Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers,” Journal of Medical Genetics, vol. 48, no. 1, pp. 64–68, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. P. Mehdipour, M. Mahdavi, J. Mohammadi-Asl, and M. Atri, “Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer,” Medical Oncology, vol. 28, no. 3, pp. 733–737, 2011. View at Publisher · View at Google Scholar · View at Scopus
  9. P. Mehdipour, L. Habibi, J. Mohammadi-Asl, N. Kamalian, and M. Mehr Azin, “Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor,” Journal of Cancer Research and Clinical Oncology, vol. 134, no. 11, pp. 1173–1180, 2008. View at Publisher · View at Google Scholar · View at Scopus
  10. A. Celebiler Cavusoglu, Y. Kilic, S. Saydam et al., “Predicting invasive phenotype with CDH1, CDH13, CD44, and TIMP3 gene expression in primary breast cancer,” Cancer Science, vol. 100, no. 12, pp. 2341–2345, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. E. M. Rosen, S. Fan, R. G. Pestell, and I. D. Goldberg, “BRCA1 in hormone-responsive cancers,” Trends in Endocrinology and Metabolism, vol. 14, no. 8, pp. 378–385, 2003. View at Publisher · View at Google Scholar · View at Scopus
  12. L. Moore-Smith and B. Pasche, “TGFBR1 signaling and breast cancer,” Journal of Mammary Gland Biology and Neoplasia, vol. 16, no. 2, pp. 89–95, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. D. F. Easton, “How many more breast cancer predisposition genes are there?” Breast Cancer Research, vol. 1, no. 1, pp. 14–17, 1999. View at Publisher · View at Google Scholar · View at Scopus
  14. J. Zhang, J. D. Fackenthal, D. Huo, Y. Zheng, and O. I. Olopade, “Searching for large genomic rearrangements of the BRCA1 gene in a Nigerian population,” Breast Cancer Research and Treatment, vol. 124, no. 2, pp. 573–577, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. P. J. O'Donovan and D. M. Livingston, “BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair,” Carcinogenesis, vol. 31, no. 6, pp. 961–967, 2010. View at Publisher · View at Google Scholar · View at Scopus
  16. T. M. Smith, M. K. Lee, C. I. Szabo et al., “Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1,” Genome Research, vol. 6, no. 11, pp. 1029–1049, 1996. View at Scopus
  17. C. G. Murphy and M. E. Moynahan, “BRCA gene structure and function in tumor suppression: a repair-centric perspective,” Cancer Journal, vol. 16, no. 1, pp. 39–47, 2010. View at Publisher · View at Google Scholar · View at Scopus
  18. A. R. Venkitaraman, “Cancer susceptibility and the functions of BRCA1 and BRCA2,” Cell, vol. 108, no. 2, pp. 171–182, 2002. View at Publisher · View at Google Scholar · View at Scopus
  19. D. Thompson and D. Easton, “The genetic epidemiology of breast cancer genes,” Journal of Mammary Gland Biology and Neoplasia, vol. 9, no. 3, pp. 221–236, 2004. View at Publisher · View at Google Scholar · View at Scopus
  20. M. Pisanò, V. Mezzolla, M. M. Galante et al., “A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history,” Familial Cancer, vol. 10, no. 1, pp. 65–71, 2011. View at Publisher · View at Google Scholar · View at Scopus
  21. S. Tommasi, A. Crapolicchio, R. Lacalamita et al., “BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy,” Mutation Research, vol. 578, no. 1-2, pp. 395–405, 2005. View at Publisher · View at Google Scholar · View at Scopus
  22. E. Manguoĝlu, Ş. Güran, D. Yamaç et al., “Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients,” Cancer Genetics and Cytogenetics, vol. 203, no. 2, pp. 230–237, 2010. View at Publisher · View at Google Scholar · View at Scopus
  23. W. De Silva, E. H. Karunanayake, K. H. Tennekoon et al., “Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals,” BMC Cancer, vol. 8, article 214, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. G. T. Toh, P. Kang, S. S. W. Lee et al., “BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history,” PLoS ONE, vol. 3, no. 4, Article ID e2024, 2008. View at Publisher · View at Google Scholar · View at Scopus
  25. I. Konstantopoulou, C. Kroupis, A. Ladopoulou et al., “BRCA1 mutation analysis in breast/ovarian cancer families from Greece,” Human Mutation, vol. 16, no. 3, pp. 272–273, 2000. View at Scopus
  26. A.-Y. Cao, J. Huang, Z. Hu et al., “Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives,” Breast Cancer Research and Treatment, vol. 115, no. 1, pp. 51–55, 2009. View at Publisher · View at Google Scholar · View at Scopus
  27. M. Loizidou, B. Marcou, V. Anastasiadou, R. Newbold, A. Hadjisavvas, and K. Kyriacou, “Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus,” Clinical Genetics, vol. 71, no. 2, pp. 165–170, 2007. View at Publisher · View at Google Scholar · View at Scopus
  28. E. Machackova, L. Foretova, M. Lukesova et al., “Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer,” BMC Cancer, vol. 8, article 140, 2008. View at Publisher · View at Google Scholar · View at Scopus
  29. T. Distelman-Menachem, T. Shapira, Y. Laitman et al., “Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women,” Familial Cancer, vol. 8, no. 2, pp. 127–133, 2009. View at Publisher · View at Google Scholar · View at Scopus
  30. A. B. Spurdle, S. R. Lakhani, S. Healey et al., “Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis—a report from the kConFab investigators,” Journal of Clinical Oncology, vol. 26, no. 10, pp. 1657–1663, 2008. View at Publisher · View at Google Scholar · View at Scopus
  31. C. Augello, L. Bruno, V. Bazan et al., “Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study,” Annals of Oncology, vol. 17, no. 7, supplement, pp. 30–33, 2006. View at Publisher · View at Google Scholar · View at Scopus
  32. L. Wei, L. Lan, Z. Hong, A. Yasui, C. Ishioka, and N. Chiba, “Rapid recruitment of BRCA1 to DNA double-strand breaks is dependent on its association with Ku80,” Molecular and Cellular Biology, vol. 28, no. 24, pp. 7380–7393, 2008. View at Publisher · View at Google Scholar · View at Scopus
  33. D. Torres, M. U. Rashid, F. Gil et al., “High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia,” Breast Cancer Research and Treatment, vol. 103, no. 2, pp. 225–232, 2007. View at Publisher · View at Google Scholar · View at Scopus
  34. A. Pietschmann, P. Mehdipour, M. Atri et al., “Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families,” Journal of Cancer Research and Clinical Oncology, vol. 131, no. 8, pp. 552–558, 2005. View at Publisher · View at Google Scholar · View at Scopus
  35. A. Hadjisavvas, E. Charalambous, A. Adamou, C. G. Christodoulou, and K. Kyriacou, “BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer,” Human Mutation, vol. 21, no. 2, p. 171, 2003. View at Scopus
  36. A. Hadjisavvas, E. Charalambous, A. Adamou, S. L. Neuhausen, C. G. Christodoulou, and K. Kyriacou, “Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation,” Cancer Genetics and Cytogenetics, vol. 151, no. 2, pp. 152–156, 2004. View at Publisher · View at Google Scholar · View at Scopus
  37. L. Turkovic, L. C. Gurrin, M. Bahlo, G. S. Dite, M. C. Southey, and J. L. Hopper, “Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age,” BMC Cancer, vol. 10, article 466, 2010. View at Publisher · View at Google Scholar · View at Scopus
  38. M. Soegaard, S. K. Kjaer, M. Cox et al., “BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark,” Clinical Cancer Research, vol. 14, no. 12, pp. 3761–3767, 2008. View at Publisher · View at Google Scholar · View at Scopus
  39. L. Jara, S. Ampuero, E. Santibáñez et al., “BRCA1 and BRCA2 mutations in a South American population,” Cancer Genetics and Cytogenetics, vol. 166, no. 1, pp. 36–45, 2006. View at Publisher · View at Google Scholar · View at Scopus
  40. M. D. Miramar, M. T. Calvo, A. Rodriguez et al., “Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1,” Breast Cancer Research and Treatment, vol. 112, no. 2, pp. 353–358, 2008. View at Publisher · View at Google Scholar · View at Scopus
  41. L. Negura, N. Uhrhammer, A. Negura, V. Artenie, E. Carasevici, and Y.-J. Bignon, “Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population,” Familial Cancer, vol. 9, no. 4, pp. 519–523, 2010. View at Publisher · View at Google Scholar · View at Scopus
  42. L.-X. Qiu, L. Yao, K. Xue et al., “BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis involving 44,903 subjects,” Breast Cancer Research and Treatment, vol. 123, no. 2, pp. 487–490, 2010. View at Publisher · View at Google Scholar · View at Scopus
  43. Z. K. Stadler, E. Salo-Mullen, S. M. Patil et al., “Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer,” Cancer, vol. 118, no. 2, pp. 493–499, 2012. View at Publisher · View at Google Scholar · View at Scopus
  44. C. V. Dillenburg, I. C. Bandeira, T. V. Tubino et al., “Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil,” Genetics and Molecular Biology, vol. 35, no. 3, pp. 599–602, 2012.
  45. K. Pylkäs, H. Erkko, J. Nikkilä, S. Sólyom, and R. Winqvist, “Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families,” BMC Cancer, vol. 8, article 146, 2008. View at Publisher · View at Google Scholar · View at Scopus
  46. J. M. Hartikainen, A. Mannermaa, S. Heinonen, V.-M. Kosma, and V. Kataja, “A BRCA2 mutation, 4088insA, in a finnish breast and ovarian cancer family associated with favourable clinical course,” Anticancer Research, vol. 27, no. 6 C, pp. 4295–4300, 2007. View at Scopus
  47. N. Loman, O. Johannsson, U. Kristoffersson, H. Olsson, and Å. Borg, “Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer,” Journal of the National Cancer Institute, vol. 93, no. 16, pp. 1215–1223, 2001. View at Scopus
  48. S. Håkansson, O. Johannsson, U. Johansson et al., “Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer,” American Journal of Human Genetics, vol. 60, no. 5, pp. 1068–1078, 1997. View at Scopus
  49. M. Thomassen, T. V. O. Hansen, Å. Borg et al., “BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer,” Acta Oncologica, vol. 47, no. 4, pp. 772–777, 2008. View at Publisher · View at Google Scholar · View at Scopus
  50. T. L. Bodd, J. Reichelt, K. Heimdal, and P. Møller, “Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway,” Journal of Genetic Counseling, vol. 12, no. 5, pp. 405–417, 2003. View at Publisher · View at Google Scholar · View at Scopus
  51. P. Møller, K. Heimdal, J. Apold et al., “Genetic epidemiology of BRCA1 mutations in Norway,” European Journal of Cancer, vol. 37, no. 18, pp. 2428–2434, 2001. View at Publisher · View at Google Scholar · View at Scopus
  52. A. Dørum, K. Heimdal, E. Hovig, M. Inganäs, and P. Møller, “Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer,” American Journal of Human Genetics, vol. 65, no. 3, pp. 671–679, 1999. View at Publisher · View at Google Scholar · View at Scopus
  53. K. Heimdal, L. Mæhle, J. Apold, J. C. Pedersen, and P. Møller, “The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer,” European Journal of Cancer, vol. 39, no. 15, pp. 2205–2213, 2003. View at Publisher · View at Google Scholar · View at Scopus
  54. H. Gunnarsson, A. Arason, E. M. Gillanders et al., “Evidence against PALB2 involvement in Icelandic breast cancer susceptibility,” Journal of Negative Results in BioMedicine, vol. 7, no. 1, article 5, 2008. View at Publisher · View at Google Scholar · View at Scopus
  55. H. Tulinius, J. E. Eyfjord, G. H. Olafsdottir et al., “The effect of a single BRCA2 mutation on cancer in Iceland,” Journal of Medical Genetics, vol. 39, no. 7, pp. 457–462, 2002. View at Scopus
  56. S. Thorlacius, G. Olafsdottir, L. Tryggvadottir et al., “A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes,” Nature Genetics, vol. 13, no. 1, pp. 117–119, 1996. View at Scopus
  57. L. Tryggvadottir, H. Sigvaldason, G. H. Olafsdottir et al., “Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920–2000,” Journal of the National Cancer Institute, vol. 98, no. 2, pp. 116–122, 2006. View at Publisher · View at Google Scholar · View at Scopus
  58. H. Papelard, G. H. De Bock, R. Van Eijk et al., “Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients,” British Journal of Cancer, vol. 83, no. 6, pp. 719–724, 2000. View at Scopus
  59. A. H. Van Der Hout, A. M. W. Van Den Ouweland, R. B. Van Der Luijt et al., “A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting,” Human Mutation, vol. 27, no. 7, pp. 654–666, 2006. View at Publisher · View at Google Scholar · View at Scopus
  60. K. Tamboom, K. Kaasik, J. Aršavskaja et al., “BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia,” Hereditary Cancer in Clinical Practice, vol. 8, no. 1, article 4, 2010. View at Publisher · View at Google Scholar · View at Scopus
  61. L. Papi, A. L. Putignano, C. Congregati et al., “Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy,” Breast Cancer Research and Treatment, vol. 117, no. 3, pp. 497–504, 2009. View at Publisher · View at Google Scholar · View at Scopus
  62. S. Agata, A. Viel, L. Della Puppa et al., “Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations,” Genes Chromosomes and Cancer, vol. 45, no. 9, pp. 791–797, 2006. View at Publisher · View at Google Scholar · View at Scopus
  63. M. Montagna, M. D. Palma, C. Menin et al., “Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families,” Human Molecular Genetics, vol. 12, no. 9, pp. 1055–1061, 2003. View at Publisher · View at Google Scholar · View at Scopus
  64. A. Vega, B. Campos, B. Bressac-De-Paillerets et al., “The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript,” Human Mutation, vol. 17, no. 6, pp. 520–521, 2001. View at Scopus
  65. B. Campos, O. Díez, F. Odefrey et al., “Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain,” Human Mutation, vol. 21, no. 4, p. 452, 2003. View at Scopus
  66. S. Palanca, I. de Juan, G. Perez-Simo et al., “The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families,” Familial Cancer, vol. 12, no. 1, pp. 119–123, 2013.
  67. I. de Juan Jiménez, Z. Garci'a Casado, S. Palanca Suela, et al., “Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence,” Familial Cancer, 2013.
  68. L. G. Mullineaux, T. M. Castellano, J. Shaw et al., “Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado,” Cancer, vol. 98, no. 3, pp. 597–602, 2003. View at Publisher · View at Google Scholar · View at Scopus
  69. M. D. Sluiter and E. J. Van Rensburg, “Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation,” Breast Cancer Research and Treatment, vol. 125, no. 2, pp. 325–349, 2011. View at Publisher · View at Google Scholar · View at Scopus
  70. C. Hartmann, A. L. John, R. Klaes et al., “Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families,” Human Mutation, vol. 24, no. 6, p. 534, 2004. View at Scopus
  71. S. Engert, B. Wappenschmidt, B. Betz et al., “MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases,” Human Mutation, vol. 29, no. 7, pp. 948–958, 2008. View at Publisher · View at Google Scholar · View at Scopus
  72. P. M. Machado, R. D. Brandão, B. M. Cavaco et al., “Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes,” Journal of Clinical Oncology, vol. 25, no. 15, pp. 2027–2034, 2007. View at Publisher · View at Google Scholar · View at Scopus
  73. E. Teugels, S. De Brakeleer, G. Goelen, W. Lissens, E. Sermijn, and J. De Grève, “De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes,” Human Mutation, vol. 26, no. 3, p. 284, 2005. View at Scopus
  74. S. Gad, V. Caux-Moncoutier, S. Pagès-Berhouet et al., “Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families,” Oncogene, vol. 21, no. 44, pp. 6841–6847, 2002. View at Publisher · View at Google Scholar · View at Scopus
  75. E. Rouleau, B. Jesson, A. Briaux et al., “Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition,” Breast Cancer Research and Treatment, vol. 133, no. 3, pp. 1179–1190, 2012. View at Publisher · View at Google Scholar · View at Scopus
  76. P. N. Tonin, “The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada,” Bulletin du Cancer, vol. 93, no. 9, pp. 841–846, 2006. View at Scopus
  77. A. P. Manning, D. Abelovich, P. Ghadirian et al., “Haplotype analysis of BRCA2 8765delAG mutation carriers in French Canadian and Yemenite Jewish hereditary breast cancer families,” Human Heredity, vol. 52, no. 2, pp. 116–120, 2001. View at Publisher · View at Google Scholar · View at Scopus
  78. Scottish/Northern Irish BRCAI/BRCA2 Consortium, “BRCA1 and BRCA2 mutations in Scotland and Northern Ireland,” British Journal of Cancer, vol. 88, no. 8, pp. 1256–1262, 2003. View at Publisher · View at Google Scholar · View at Scopus
  79. J. M. Lancaster, M. E. Carney, J. Gray et al., “BRCA 1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA 1,” British Journal of Cancer, vol. 78, no. 11, pp. 1417–1420, 1998. View at Scopus
  80. J. Peto, N. Collins, R. Barfoot et al., “Prevalence of BRCA1 and BRCA2 gene mutations in patients with early- onset breast cancer,” Journal of the National Cancer Institute, vol. 91, no. 11, pp. 943–949, 1999. View at Scopus
  81. I. Ticha, Z. Kleibl, J. Stribrna et al., “Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene,” Breast Cancer Research and Treatment, vol. 124, no. 2, pp. 337–347, 2010. View at Publisher · View at Google Scholar · View at Scopus
  82. M. Krajc, V. Zadnik, and S. Novakovic, “Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening,” Clinical Genetics, 2013.
  83. M. Krajc, E. Teugels, J. Zgajnar et al., “Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families,” BMC Medical Genetics, vol. 9, article 83, 2008. View at Publisher · View at Google Scholar · View at Scopus
  84. V. Stegel, M. Krajc, J. Žgajnar et al., “The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population,” BMC Medical Genetics, vol. 12, article 9, 2011. View at Publisher · View at Google Scholar · View at Scopus
  85. N. Besic, B. Cernivc, J. De Grève et al., “BRCA2 gene mutations in Slovenian male breast cancer patients,” Genetic Testing, vol. 12, no. 2, pp. 203–209, 2008. View at Publisher · View at Google Scholar · View at Scopus
  86. S. Novakovic, M. Milatovic, P. Cerkovnik et al., “Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families,” International Journal of Oncology, vol. 41, no. 5, pp. 1619–1627, 2012.
  87. M. Ratajska, I. Brozek, E. Senkus-Konefka et al., “BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland,” Oncology Reports, vol. 19, no. 1, pp. 263–268, 2008. View at Scopus
  88. T. Byrski, “Germline mutation of BRCA1 gene in Polish families with strong aggregation of breast and/or ovarian cancer based on coding sequence analysis using the SSCP method,” Annales Academiae Medicae Stetinensis, vol. 49, pp. 27–43, 2003. View at Scopus
  89. P. Willems, V. Magri, M. Cretnik et al., “Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg),” International Journal of Oncology, vol. 34, no. 4, pp. 1005–1015, 2009. View at Publisher · View at Google Scholar · View at Scopus
  90. P. Gaj, A. Kluska, and D. Nowakowska, “High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer,” Familial Cancer, vol. 11, no. 4, pp. 623–628, 2012.
  91. J. N. M. Glover, “Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain,” Familial Cancer, vol. 5, no. 1, pp. 89–93, 2006. View at Publisher · View at Google Scholar · View at Scopus
  92. T. Anagnostopoulos, M. Pertesi, I. Konstantopoulou et al., “G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history,” Breast Cancer Research and Treatment, vol. 110, no. 2, pp. 377–385, 2008. View at Publisher · View at Google Scholar · View at Scopus
  93. G. Palomba, M. Pisano, A. Cossu et al., “Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening,” Cancer, vol. 104, no. 6, pp. 1172–1179, 2005. View at Publisher · View at Google Scholar · View at Scopus
  94. A. A. Langston, K. E. Malone, J. D. Thompson, J. R. Daling, and E. A. Ostrander, “BRCA1 mutations in a population-based sample of young women with breast cancer,” New England Journal of Medicine, vol. 334, no. 3, pp. 137–142, 1996. View at Publisher · View at Google Scholar · View at Scopus
  95. T. Walsh, S. Casadei, K. H. Coats et al., “Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer,” Journal of the American Medical Association, vol. 295, no. 12, pp. 1379–1388, 2006. View at Publisher · View at Google Scholar · View at Scopus
  96. A. G. Silva, I. P. Ewald, and M. Sapienza, “Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion,” BMC Cancer, vol. 12, article 237, 2012.
  97. J. N. Weitzel, J. Clague, A. Martir-Negron, et al., “Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network,” International Journal of Oncology, vol. 31, no. 2, pp. 210–216, 2013.
  98. S. Rummel, E. Varner, C. D. Shriver, and R. E. Ellsworth, “Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer,” Breast Cancer Research and Treatment, vol. 137, no. 1, pp. 119–125, 2013.
  99. E. M. John, A. Miron, G. Gong et al., “Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups,” Journal of the American Medical Association, vol. 298, no. 24, pp. 2869–2876, 2007. View at Publisher · View at Google Scholar · View at Scopus
  100. A. Meindl, “Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population,” International Journal of Cancer, vol. 97, no. 4, pp. 472–480, 2002. View at Publisher · View at Google Scholar · View at Scopus
  101. M. C. B. Gomes, M. M. Costa, R. Borojevic et al., “Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil,” Breast Cancer Research and Treatment, vol. 103, no. 3, pp. 349–353, 2007. View at Publisher · View at Google Scholar · View at Scopus
  102. R. M. Dufloth, S. Carvalho, J. K. Heinrich et al., “Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history,” Sao Paulo Medical Journal, vol. 123, no. 4, pp. 192–197, 2005. View at Scopus
  103. T. Donenberg, J. Lunn, D. Curling et al., “A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas,” Breast Cancer Research and Treatment, vol. 125, no. 2, pp. 591–596, 2011. View at Publisher · View at Google Scholar · View at Scopus
  104. M. Gallardo, A. Silva, L. Rubio et al., “Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations,” Breast Cancer Research and Treatment, vol. 95, no. 1, pp. 81–87, 2006. View at Publisher · View at Google Scholar · View at Scopus
  105. M. Akbari, T. Donenberg, J. Lunn, et al., “The Spectrum of BRCA1 and BRCA2 mutations in Breast Cancer Patients in the Bahamas,” Clin Genet, 2013.
  106. Z. Azeem, A. Farooq, A. K. Naveed, and T. Ahmad, “Breast and ovarian cancer risk due to prevalence of BRCA1 and BRCA2 variants in pakistani population: a Pakistani database report,” Journal of Oncology, vol. 2011, Article ID 632870, 8 pages, 2011. View at Publisher · View at Google Scholar · View at Scopus
  107. M. U. Rashid, A. Zaidi, D. Torres et al., “Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients,” International Journal of Cancer, vol. 119, no. 12, pp. 2832–2839, 2006. View at Publisher · View at Google Scholar · View at Scopus
  108. N. A. Sharifah, M. I. Nurismah, H. C. Lee et al., “Identification of novel large genomic rearrangements at the BRCA1 locus in Malaysian women with breast cancer,” Cancer Epidemiology, vol. 34, no. 4, pp. 442–447, 2010. View at Publisher · View at Google Scholar · View at Scopus
  109. D. S. C. Lee, S.-Y. Yoon, L. M. Looi et al., “Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients,” Breast Cancer Research, vol. 14, article R61, 2012. View at Publisher · View at Google Scholar · View at Scopus
  110. M. Seong, S. I. Cho, D. Noh et al., “Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation,” Clinical Genetics, vol. 76, no. 2, pp. 152–160, 2009. View at Publisher · View at Google Scholar · View at Scopus
  111. S.-H. Han, K.-R. Lee, D.-G. Lee, B.-Y. Kim, K.-E. Lee, and W.-S. Chung, “Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer,” Clinical Genetics, vol. 70, no. 6, pp. 496–501, 2006. View at Publisher · View at Google Scholar · View at Scopus
  112. D. H. Choi, D. Y. Cho, M. H. Lee et al., “The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation,” Breast Cancer Research and Treatment, vol. 112, no. 3, pp. 569–573, 2008. View at Publisher · View at Google Scholar · View at Scopus
  113. H. C. Kang, I.-J. Kim, J.-H. Park et al., “Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families,” Human Mutation, vol. 20, no. 3, p. 235, 2002. View at Scopus
  114. N. Ikeda, Y. Miyoshi, K. Yoneda et al., “Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families,” International Journal of Cancer, vol. 91, no. 1, pp. 83–88, 2001.
  115. M. Matsushima, K. Kobayashi, M. Emi et al., “Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation,” Human Molecular Genetics, vol. 4, no. 10, pp. 1953–1956, 1995. View at Scopus
  116. W. Chen, K. Pan, T. Ouyang et al., “BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer,” Breast Cancer Research and Treatment, vol. 117, no. 1, pp. 55–60, 2009. View at Publisher · View at Google Scholar · View at Scopus
  117. W. Cao, X. Wang, Y. Gao, H. Yang, and J. C. Li, “BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer,” The Anatomical Record, vol. 296, no. 2, pp. 273–278, 2013.
  118. W.-F. Li, Z. Hu, N.-Y. Rao et al., “The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified,” Breast Cancer Research and Treatment, vol. 110, no. 1, pp. 99–109, 2008. View at Publisher · View at Google Scholar · View at Scopus
  119. W. F. Li, Z. Hu, and X. Y. Liu, “BRCA1 germ line mutations in Chinese early-onset breast cancer patients,” Zhonghua Yi Xue Yi Chuan Xue Za Zhi, vol. 24, no. 5, pp. 499–504, 2007.
  120. A. Kwong, E. K. Ng, and C. L. Wong, “Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis,” PLoS ONE, vol. 7, no. 9, Article ID e43994, 2012.
  121. U.-S. Khoo, K. Y. K. Chan, A. N. Y. Cheung et al., “Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population,” Human Mutation, vol. 19, no. 3, pp. 307–308, 2002. View at Scopus
  122. S. Hedau, N. Jain, S. A. Husain et al., “Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India,” Breast Cancer Research and Treatment, vol. 88, no. 2, pp. 177–186, 2004. View at Scopus
  123. K. Vaidyanathan, S. Lakhotia, H. M. Ravishankar, U. Tabassum, G. Mukherjee, and K. Somasundaram, “BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation,” Journal of Biosciences, vol. 34, no. 3, pp. 415–422, 2009. View at Scopus
  124. S. Saxena, A. Chakraborty, M. Kaushal et al., “Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India,” BMC Medical Genetics, vol. 7, article 75, 2006. View at Publisher · View at Google Scholar · View at Scopus
  125. M. T. Valarmathi, M. Sawhney, S. S. V. Deo, N. K. Shukla, and S. N. Das, “Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families,” Human Mutation, vol. 23, no. 2, p. 205, 2004. View at Scopus
  126. J. Hansa, R. Kannan, and S. K. Ghosh, “Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India,” Asian Pacific Journal of Cancer Prevention, vol. 13, no. 11, pp. 5871–5874, 2012.
  127. A. Chakraborty, A. Mukhopadhyay, D. Bhattacharyya, et al., “Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India,” Familial Cancer, 2012.
  128. M. S. Anisimenko, D. V. Mitrofanov, O. B. Chasovnikova, M. I. Voevoda, and S. P. Kovalenko, “BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples,” Breast, vol. 22, no. 4, pp. 532–536, 2013. View at Publisher · View at Google Scholar
  129. S. A. Gayther, P. Harrington, P. Russell, G. Kharkevich, R. F. Garkavtseva, and B. A. J. Ponder, “Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia,” American Journal of Human Genetics, vol. 60, no. 5, pp. 1239–1242, 1997. View at Scopus
  130. O. B. Chasovnikova, D. V. Mitrofanov, M. S. Anisimenko, M. I. Voevoda, S. P. Kovalenko, and V. V. Liakhovich, “Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region,” Genetika, vol. 48, no. 6, pp. 768–772, 2012.
  131. I. V. Tereschenko, V. M. Basham, B. A. J. Ponder, and P. D. P. Pharoah, “BRCA1 and BRCA2 mutations in Russian familial breast cancer,” Human Mutation, vol. 19, no. 2, p. 184, 2002. View at Scopus
  132. A. H. Hashemian, E. Hajizadeh, A. Kazemnejad, M. Atri, and P. Mehdipour, “Penetrance of BRCA1/BRCA2 specific gene mutations in Iranian women with breast cancer,” Saudi Medical Journal, vol. 30, no. 1, pp. 41–44, 2009. View at Scopus
  133. A. Ghaderi, A. Talei, S. Farjadian, A. Mosalaei, M. Doroudchi, and H. Kimura, “Germline BRCA1 mutations in Iranian women with breast cancer,” Cancer Letters, vol. 165, no. 1, pp. 87–94, 2001. View at Publisher · View at Google Scholar · View at Scopus
  134. V. R. Yassaee, S. Zeinali, and I. Harirchi, “Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer,” Breast Cancer Research, vol. 4, no. 4, p. R6, 2002.
  135. R. Moslehi, M. H. Kariminejad, V. Ghaffari, and S. Narod, “Analysis of BRCA1 and BRCA2 mutations in an Iranian family with hereditary breast and ovarian cancer syndrome,” American Journal of Medical Genetics, vol. 117, no. 3, pp. 304–305, 2003. View at Scopus
  136. E. Alvandi, L. Habibi, A. Savabi-E, S. Hosseini Asl, P. Mehdipour, and M. Atri, “Low Frequency of 185delAG founder mutation of BRCA1 gene in Iranian Breast Cancer patients,” Journal of Cancer Molecules, vol. 2, no. 3, pp. 123–127, 2006.
  137. M. J. Fattahi, Z. Mojtahedi, N. Karimaghaee, A.-R. Talei, S. J. Banani, and A. Ghaderi, “Analysis of BRCA1 and BRCA2 mutations in southern Iranian breast cancer patients,” Archives of Iranian Medicine, vol. 12, no. 6, pp. 584–587, 2009. View at Scopus
  138. H. Rassi, M. Houshmand, M. Hashemi, K. Majidzadeh, M. H. H. Akbari, and M. S. S. Panahi, “Application of multiplex PCR with histopathologic features for detection of familial breast cancer in formalin-fixed, paraffin-embedded histologic specimens,” Cytology and Genetics, vol. 42, no. 2, pp. 55–62, 2008. View at Scopus
  139. F. Keshavarzi, G. R. Javadi, and S. Zeinali, “BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients,” Familial Cancer, vol. 11, no. 1, pp. 57–67, 2012. View at Publisher · View at Google Scholar · View at Scopus
  140. L. Quintana-Murci, I. Gal, T. Bakhan et al., “The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews,” Familial Cancer, vol. 4, no. 2, pp. 85–88, 2005. View at Publisher · View at Google Scholar · View at Scopus
  141. Y. Laitman, R. T. Borsthein, D. Stoppa-Lyonnet et al., “Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel,” Breast Cancer Research and Treatment, vol. 127, no. 2, pp. 489–495, 2011. View at Publisher · View at Google Scholar · View at Scopus
  142. H. A. Risch, J. R. McLaughlin, D. E. C. Cole et al., “Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer,” American Journal of Human Genetics, vol. 68, no. 3, pp. 700–710, 2001. View at Publisher · View at Google Scholar · View at Scopus
  143. N. Uhrhammer, A. Abdelouahab, L. Lafarge, V. Feille, A. B. Dib, and Y.-J. Bignon, “BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases,” International Journal of Medical Sciences, vol. 5, no. 4, pp. 197–202, 2008. View at Scopus
  144. R. Bruchim Bar-Sade, A. Kruglikova, B. Modan et al., “The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim,” Human Molecular Genetics, vol. 7, no. 5, pp. 801–805, 1998. View at Publisher · View at Google Scholar · View at Scopus
  145. N. C. van der Merwe, N. Hamel, S.-R. Schneider, J. P. Apffelstaedt, J. T. Wijnen, and W. D. Foulkes, “A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa,” Clinical Genetics, vol. 81, no. 2, pp. 179–184, 2012. View at Publisher · View at Google Scholar · View at Scopus
  146. A. Laraqui, N. Uhrhammer, I. Lahlou-Amine, et al., “Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population,” International Journal of Medical Sciences, vol. 10, no. 1, pp. 60–67, 2013.
  147. T. V. O. Hansen, L. Jønson, A. Albrechtsen et al., “Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer,” Breast Cancer Research and Treatment, vol. 124, no. 1, pp. 259–264, 2010. View at Publisher · View at Google Scholar · View at Scopus
  148. M. C. Southey, A. A. Tesoriero, C. R. Andersen et al., “BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer,” British Journal of Cancer, vol. 79, no. 1, pp. 34–39, 1999. View at Publisher · View at Google Scholar · View at Scopus
  149. A. Musolino, M. A. Bella, B. Bortesi et al., “BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study,” Breast, vol. 16, no. 3, pp. 280–292, 2007. View at Publisher · View at Google Scholar · View at Scopus
  150. M. Atri, P. Mehdipour, M. Javidroozi, S. Hosseini-Asl, and E. Jafarimojarrad, “Linking histopathology and family history in breast cancer,” Asian Pacific Journal of Cancer Prevention, vol. 3, no. 1, pp. 33–39, 2002.
  151. L. C. Collins, A. Martyniak, M. J. Kandel et al., “Basal cytokeratin and epidermal growth factor receptor expression are not predictive of BRCA1 mutation status in women with triple-negative breast cancers,” American Journal of Surgical Pathology, vol. 33, no. 7, pp. 1093–1097, 2009. View at Publisher · View at Google Scholar · View at Scopus
  152. E. Thirthagiri, S. Y. Lee, P. Kang et al., “Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer,” Breast Cancer Research, vol. 10, no. 4, article R59, 2008. View at Publisher · View at Google Scholar · View at Scopus
  153. B. Davarnia, P. Mehdipour M, S. Atri, and Hosseini-Asl, “Investigation on the correlation between BRCA1 gene expression and the pathologic statue of breast tumors,” Magazine of Ardebil University of Medical Sciences, vol. 12, no. 2, pp. 132–139, 2012.
  154. M. R. Stratton, “Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases,” Lancet, vol. 349, no. 9064, pp. 1505–1510, 1997. View at Publisher · View at Google Scholar · View at Scopus
  155. A. M. Gonzalez-Angulo, K. M. Timms, S. Liu et al., “Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer,” Clinical Cancer Research, vol. 17, no. 5, pp. 1082–1089, 2011. View at Publisher · View at Google Scholar · View at Scopus
  156. L. D. Smith, A. A. Tesoriero, E. M. Wong et al., “Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry,” Breast Cancer Research, vol. 13, no. 1, article R14, 2011. View at Publisher · View at Google Scholar · View at Scopus
  157. V. Bonadona, S. Dussart-Moser, N. Voirin et al., “Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review,” Breast Cancer Research and Treatment, vol. 101, no. 2, pp. 233–245, 2007. View at Publisher · View at Google Scholar · View at Scopus
  158. N. Hamel, B.-J. Feng, L. Foretova et al., “On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations,” European Journal of Human Genetics, vol. 19, no. 3, pp. 300–306, 2011. View at Publisher · View at Google Scholar · View at Scopus
  159. J. Hartikainen, V. Kataja, M. Pirskanen et al., “Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ ovarian cancer families,” Clinical Genetics, vol. 72, no. 4, pp. 311–320, 2007. View at Publisher · View at Google Scholar · View at Scopus
  160. A. Peixoto, C. Santos, P. Rocha et al., “The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal,” Breast Cancer Research and Treatment, vol. 114, no. 1, pp. 31–38, 2009. View at Publisher · View at Google Scholar · View at Scopus
  161. F. Schoumacher, A. Glaus, H. Mueller, U. Eppenberger, B. Bolliger, and H. J. Senn, “BRCA1/2 mutations in Swiss patients with familial or early-onset breast and ovarian cancer,” Swiss Medical Weekly, vol. 131, no. 15-16, pp. 223–226, 2001. View at Scopus
  162. S. L. Neuhausen, A. K. Godwin, R. Gershoni-Baruch et al., “Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study,” American Journal of Human Genetics, vol. 62, no. 6, pp. 1381–1388, 1998. View at Publisher · View at Google Scholar · View at Scopus
  163. A. Liede, B. Cohen, D. M. Black et al., “Evidence of a founder BRCA1 mutation in Scotland,” British Journal of Cancer, vol. 82, no. 3, pp. 705–711, 2000. View at Scopus
  164. U. Hamann, X. Liu, N. Bungardt, H. Ulrich Ulmer, G. Bastert, and H.-P. Sinn, “Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany,” European Journal of Human Genetics, vol. 11, no. 6, pp. 464–467, 2003. View at Publisher · View at Google Scholar · View at Scopus
  165. U. Hamann, M. Häner, U. Stosiek, G. Bastert, and R. J. Scott, “Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families,” Journal of Medical Genetics, vol. 34, no. 11, pp. 884–888, 1997. View at Scopus
  166. U. Hamann, H. Brauch, A. M. Garvin, G. Bastert, and R. J. Scott, “German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene,” Genes Chromosomes Cancer, vol. 18, no. 2, pp. 126–132, 1997.
  167. H. Vézina, F. Durocher, M. Dumont et al., “Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families,” Human Genetics, vol. 117, no. 2-3, pp. 119–132, 2005. View at Publisher · View at Google Scholar · View at Scopus
  168. K. Oros, G. Leblanc, S. Arcand et al., “Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families,” BMC Medical Genetics, vol. 7, article 23, 2006. View at Publisher · View at Google Scholar
  169. J. Simard, M. Dumont, A.-M. Moisan et al., “Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer,” Journal of Medical Genetics, vol. 44, pp. 107–121, 2007.
  170. D. Muller, C. Bonaiti-Pellié, J. Abecassis, D. Stoppa-Lyonnet, and J.-P. Fricker, “BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect,” Familial Cancer, vol. 3, no. 1, pp. 15–20, 2004. View at Publisher · View at Google Scholar · View at Scopus
  171. S. Gad, V. Caux-Moncoutier, S. Pagès-Berhouet et al., “Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families,” Oncogene, vol. 21, no. 44, pp. 6841–6847, 2002. View at Publisher · View at Google Scholar · View at Scopus
  172. M. A. Caligo, C. Ghimenti, G. Cipollini et al., “BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations,” Oncogene, vol. 13, no. 7, pp. 1483–1488, 1996. View at Scopus
  173. K. Claes, E. Machackova, X. De Vos, B. Poppe, A. De Paepe, and L. Messiaen, “Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3 A > G,” Disease Markers, vol. 15, no. 1–3, pp. 69–73, 1999. View at Scopus
  174. K. Claes, B. Poppe, I. Coene, A. De Paepe, and L. Messiaen, “BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families,” British Journal of Cancer, vol. 90, no. 6, pp. 1244–1251, 2004. View at Publisher · View at Google Scholar · View at Scopus
  175. P. Pohlreich, M. Zikan, J. Stribrna et al., “High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area,” Breast Cancer Research, vol. 7, no. 5, pp. R728–R736, 2005. View at Scopus
  176. S. Čierniková, M. Tomka, M. Kováč, V. Števurková, and V. Zajac, “Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families,” Neoplasma, vol. 53, no. 2, pp. 97–102, 2006. View at Scopus
  177. M. Konecny, M. Vizvaryova, E. Weismanova et al., “The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families,” Neoplasma, vol. 54, no. 2, pp. 137–142, 2007. View at Scopus
  178. M. Konecny, M. Milly, K. Zavodna et al., “Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia,” Breast Cancer Research and Treatment, vol. 126, no. 1, pp. 119–130, 2011. View at Publisher · View at Google Scholar · View at Scopus
  179. M. Konecny, M. Vizvaryova, K. Zavodna et al., “Identification of a novel mutations Brca1*c.80 + 3del4 and Brca2*c.6589delA in Slovak HBOC families,” Breast Cancer Research and Treatment, vol. 119, no. 1, pp. 233–237, 2010. View at Publisher · View at Google Scholar · View at Scopus
  180. C. Koumpis, C. Dimitrakakis, A. Antsaklis et al., “Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece,” Hereditary Cancer in Clinical Practice, vol. 9, p. 10, 2011.
  181. T. M. Wagner, R. A. Moslinger, and D. Muhr, “BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics,” International Journal of Cancer, vol. 77, no. 3, pp. 354–360, 1998.
  182. B. Csokay, L. Tihomirova, A. Stengrevics, O. Sinicka, and E. Olah, “Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia. Mutation in brief no. 258. Online,” Human Mutation, vol. 14, no. 1, p. 92, 1999. View at Scopus
  183. L. Tikhomirova, O. Sinicka, D. Smite, J. Eglitis, S. V. Hodgson, and A. Stengrevics, “High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia,” Familial Cancer, vol. 4, no. 2, pp. 77–84, 2005. View at Publisher · View at Google Scholar · View at Scopus
  184. M. Van Der Looij, C. Szabo, I. Besznyak et al., “Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary,” International Journal of Cancer, vol. 86, no. 5, pp. 737–740, 2000.
  185. S. J. Ramus, Z. Kote-Jarai, L. S. Friedman et al., “Analysis of BRCA1 and BRCA2 mutations in hungarian families with breast or breast-ovarian cancer,” American Journal of Human Genetics, vol. 60, no. 5, pp. 1242–1246, 1997. View at Scopus
  186. J. Papp, L. Raicevic, J. Milasin, B. Dimitrijevic, S. Radulovic, and E. Olah, “Germline mutation analysis of BRCA1 and BRCA2 genes in Yugoslav breast/ovarian cancer families,” Oncology Reports, vol. 6, no. 6, pp. 1435–1438, 1999. View at Scopus
  187. N. V. Bogdanova, N. N. Antonenkova, Y. I. Rogov, J. H. Karstens, P. Hillemanns, and T. Dörk, “High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus,” Clinical Genetics, vol. 78, no. 4, pp. 364–372, 2010. View at Publisher · View at Google Scholar · View at Scopus
  188. R. C. Rodriguez, A. A. Esperon, R. Ropero et al., “Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba,” Familial Cancer, vol. 7, no. 3, pp. 275–279, 2008. View at Publisher · View at Google Scholar · View at Scopus
  189. G. Gutierrez Espeleta, M. Llacuachaqui, L. Garcia-Jimenez, et al., “BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica,” Clinical Genetics, vol. 82, no. 5, pp. 484–488, 2012.
  190. D. M. Carraro, M. A. Koike Folgueira, B. C. Garcia Lisboa et al., “Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil,” PLoS ONE, vol. 8, no. 3, Article ID e57581, 2013.
  191. A. O. Rodríguez, M. Llacuachaqui, G. G. Pardo et al., “BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia,” Gynecologic Oncology, vol. 124, no. 2, pp. 236–243, 2012. View at Publisher · View at Google Scholar · View at Scopus
  192. K. Lara, N. Consigliere, J. Perez, and A. Porco, “BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela,” Biological Research, vol. 45, no. 2, pp. 117–130, 2012.
  193. J. Dutil, J. L. Colon-Colon, J. L. Matta, R. Sutphen, and M. Echenique, “Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico,” Cancer Genetics, vol. 205, no. 5, pp. 242–248, 2012.
  194. F. Vaca-Paniagua, R. M. Alvarez-Gomez, V. Fragoso-Ontiveros, et al., “Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer,” PLoS ONE, vol. 7, no. 5, Article ID e37432, 2012.
  195. H. Yazici, O. Bitisik, E. Akisik et al., “BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients,” British Journal of Cancer, vol. 83, no. 6, pp. 737–742, 2000. View at Scopus
  196. A. Balci, P. Huusko, K. Pääkkönen et al., “Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer,” European Journal of Cancer, vol. 35, no. 5, pp. 707–710, 1999. View at Publisher · View at Google Scholar · View at Scopus
  197. H. Özdag, M. Tez, I. Sayek et al., “Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients,” European Journal of Cancer, vol. 36, no. 16, pp. 2076–2082, 2000. View at Publisher · View at Google Scholar · View at Scopus
  198. B. H. Son, S. H. Ahn, S.-W. Kim et al., “Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study,” Breast Cancer Research and Treatment, vol. 133, no. 3, pp. 1143–1152, 2012. View at Publisher · View at Google Scholar · View at Scopus
  199. J.-H. Jang, J. E. Lee, M.-J. Kwon et al., “Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: The importance of whole-gene sequencing,” Journal of Human Genetics, vol. 57, pp. 212–215, 2012.
  200. X. Zhi, C. Szabo, S. Chopin et al., “BRCA1 and BRCA2 sequence variants in Chinese breast cancer families,” Human Mutation, vol. 20, no. 6, p. 474, 2002. View at Scopus
  201. S.-T. Chen, R.-A. Chen, S.-J. Kuo, and Y.-C. Chien, “Mutational screening of breast cancer susceptibility gene 1 from early onset, bi-lateral, and familial breast cancer patients in Taiwan,” Breast Cancer Research and Treatment, vol. 77, no. 2, pp. 133–143, 2003. View at Publisher · View at Google Scholar · View at Scopus
  202. P. Patmasiriwat, K. Bhothisuwan, O. M. Sinilnikova et al., “Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer,” Human Mutation, vol. 20, no. 3, p. 230, 2002. View at Scopus
  203. W.-H. Kuo, P.-H. Lin, A.-C. Huang et al., “Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer,” Journal of Human Genetics, vol. 57, no. 2, pp. 130–138, 2012. View at Publisher · View at Google Scholar · View at Scopus
  204. S. S.-L. Li, H.-M. Tseng, T.-P. Yang et al., “Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan,” Human Genetics, vol. 104, no. 3, pp. 201–204, 1999. View at Publisher · View at Google Scholar · View at Scopus
  205. Y. K. Lim, P. T. C. Iau, A. B. Ali et al., “Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer,” Clinical Genetics, vol. 71, no. 4, pp. 331–342, 2007. View at Publisher · View at Google Scholar · View at Scopus
  206. J.-H. Sng, A. B. Ali, S. C. Lee et al., “BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer,” Journal of Medical Genetics, vol. 40, no. 10, article e117, 2003. View at Scopus
  207. A. S. G. Lee, G. H. Ho, P. C. Oh et al., “Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore,” Human Mutation, vol. 22, no. 2, p. 178, 2003. View at Scopus
  208. M. L. De Leon Matsuda, A. Liede, E. Kwan et al., “BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines,” International Journal of Cancer, vol. 98, no. 4, pp. 596–603, 2002. View at Publisher · View at Google Scholar · View at Scopus
  209. N. Jalkh, J. Nassar-Slaba, E. Chouery et al., “Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon,” Hereditary Cancer in Clinical Practice, vol. 10, no. 1, p. 7, 2012.
  210. M. T. Valarmathi, M. T. A. A, S. S. Deo, N. K. Shukla, and S. N. Das, “BRCA1 germline mutations in Indian familial breast cancer,” Human Mutation, vol. 21, no. 1, pp. 98–99, 2003.
  211. D. Purnomosari, G. Pals, A. Wahyono et al., “BRCA1 and BRCA2 germline mutation analysis in the Indonesian population,” Breast Cancer Research and Treatment, vol. 106, no. 2, pp. 297–304, 2007. View at Publisher · View at Google Scholar · View at Scopus
  212. O. Ginsburg, N. Dinh, T. To et al., “Family history, BRCA mutations and breast cancer in Vietnamese women,” Clinical Genetics, vol. 80, no. 1, pp. 89–92, 2011. View at Publisher · View at Google Scholar · View at Scopus
  213. S. S. Ibrahim, E. E. Hafez, and M. M. Hashishe, “Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection,” Journal of Experimental and Clinical Cancer Research, vol. 29, no. 1, article 82, 2010. View at Publisher · View at Google Scholar · View at Scopus
  214. W. Troudi, N. Uhrhammer, C. Sibille et al., “Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia,” Journal of Human Genetics, vol. 52, no. 11, pp. 915–920, 2007. View at Publisher · View at Google Scholar · View at Scopus
  215. W. Troudi, N. Uhrhammer, K. B. Romdhane et al., “Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer,” Cancer Biomarkers, vol. 4, no. 1, pp. 11–18, 2008. View at Scopus
  216. A. Tazzite, H. Jouhadi, S. Nadifi et al., “BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants,” Gynecologic Oncology, vol. 125, no. 3, pp. 687–692, 2012. View at Publisher · View at Google Scholar · View at Scopus