Research Article
Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer
Table 2
Genetics and histopathological characterizations of the Algerian BRCA mutation carriers.
| | Patients | Genes | Age at diagnosis (years) | Nucleotide change (HGVS) | Amino acid change | Variant type | Location
Exon/Intron | Hormonal receptors | HER2
status | Tumor histotype/grade | Affected family members | | RE | RP | Breast/ovarian cancers (age at diagnosis: years) | Other cancer (age at diagnosis: years) |
| | 801 | BRCA1 | 40 | c.1817del | (p.Pro606Leufs6) | FS | 11 | − | − | − | IDC/III | Sister, Br breast (38)
Cousin P, breast (45) | No |
| | 860 | BRCA1 | 39 | Del exon 2 | | LGR | 2 | − | − | − | IDC/II | No | No |
| | 879 | BRCA1 | 38 | c.4065_4068del | (p.Asn1355Lysfs10) | FS | 11 | − | − | − | IDC/II | No | Uncle P, CUPS (70) |
| | 900 | BRCA1 | 34 | c.5332+1G>A | | Splice donor variant | 21 | − | − | − | IDC/III | No | Grandmother M, cervix uteri (80)
Aunt P, stomach (85)
2 cousins P, blood (40, 50)
2 uncles P, gastric (60, 65) |
| | 903 | BRCA2 | 28 | c.7654dupA | (p.Ile2552Asnfs2) | FS | 16 | + | + | + | IDC + ILC/II | Grandmother P, breast (65) | Father, brain (66) |
| | 911 | BRCA2 | 38 | c.1528G>T | (p.Glu510) | NS | 10 | + | + | − | IDC/II | No | Uncle M, colon (50) |
| | 988 | BRCA2 | 30 | Del exons 19-20 | | LGR | 19/20 | + | + | − | IDC/I | No | No |
| | 1000 | BRCA2 | 30 | c.6450del | (p.Val2151Phefs17) | FS | 11 | + | + | − | IDC + ILC/III | No | Cousin P, bone (23).
Grandmother, blood (76) |
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FS: frameshift; NS: nonsense; LGR: large genomic rearrangement; IDC: invasive ductal carcinoma; ILC: invasive lobular carcinoma; M: maternal; P: paternal; CUPS: cancer of unknown primary site.
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