RASSF1 Polymorphisms in Cancer

Table 1

RASSF1A single nucleotide polymorphisms. Several RASSF1A polymorphic changes have been identified as outlined in Table 1. SNP sites consulted to draft this table include NCBI (at http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?showRare=on&chooseRs=coding&go=Go&locusId=11186) and DMDM (at http://bioinf.umbc.edu/dmdm/gene_prot_page.php?search_type=gene&id=11186).

Polymorphism	Tissue or cell line origin	SNP ID^% and other information	References
K21Q (AAG →CAG)	Breast (tumor); Kidney (renal carcinoma cell TK10 and KRC/Y); Lung (Non small cell Lung cancer cell line)	rs4688725^*, **, #,	Schagdarsurengin et al. [23]; Dammann et al. [24]; Agathanggelou et al. [25]; Burbee et al. [26]
R28H (CGT → CAT)	Breast (Tumor); Lung (nonsmall cell lung cancer cell line)	Presence in lung carcinomas are rare	Schagdarsurengin et al. [23]; Dammann et al. [24]; Burbee et al. [26]
V47F (GTC → TTC)	Not listed	rs61758759^*, **, #,	NCB1^%
R53C (CGC →TGC)	Breast (tumor); Lung (nonsmall cell lung cancer cell line)	Q9NS23^$	Schagdarsurengin et al. [23]; Dammann et al. [24]; Burbee et al. [26]
A60T (GCA → ACA)	Breast	No SNP ID found	Agathanggelou et al. [25]
C65R (TGC → CGT)	Breast (tumor)	No SNP ID found	Dallol et al. [27]
S131F (TCT → TTT)	Breast (tumor); Kidney (Wilm’s tumor)	No SNP ID found	Schagdarsurengin et al. [23]; Dammann et al. [24]
A133S (GCT → TCT)	Breast (tumor, fibroademonas), 33%; Kidney (Wilm’s tumor), 21%; Brain (medulloblastoma), 9%; Muscle (rhadomyosarcoma), 19%; Lung (nonsmall cell lung cancer cell line)	rs52807901 and rs2073498; Association with BRAC1/2 mutations; Homozygous in breast cancer; 21% of kids with germ line mutation, maternal in origin	Schagdarsurengin et al. [23]; Dammann et al. [24]; Bergqvist et al. [28]; Gao et al. [29]; Burbee et al. [26]; Lusher et al. [30]
I135T (ATT →ACT)	Lung (nonsmall cell lung cancer cell line); Breast (tumor cell line)	No SNP ID found	Dammann et al. [24]; Agathanggelou et al. [25]
V211A (GTC → GCC)	Breast	No SNP ID found	Agathanggelou et al. [25]
R201H (CGC → CAC)	ENT (nasopharyngeal carcinoma)	In 23 tumor samples, 34 other polymorphisms were detected (not listed in this table) with 30 transitions, 2 transversions, and 2 deletions (6 in SH3/C1 domain and 6 in RA domain)	Zhi-Gang Pan et al. [31]
E246K (GAA → AAG)	Breast (tumor)	No SNP ID found	Agathanggelou et al. [25]
R257Q (CGG → CAG)	Breast (Tumor); Lung (nonsmall cell lung cancer cell line	No SNP ID found	Schagdarsurengin et al [23]; Dammann et al. [24]; Agathanggelou et al. [25]; Dallol et al. [27]
H315R (CAC → CGC)	NCBI SNP database, source unknown	rs52792349 and rs12488879	Geoffery Clark (personnel communication)
Y325C (TAT → TGT)	Breast (tumor); Lung (nonsmall cell lung cancer cell line	No SNP ID found	Schagdarsurengin et al. [23]; Dammann et al. [24]; Burbee et al. [26]
L270V (CTG → GTG)	Cervical (tumor)	No SNP ID found	Schagdarsurengin et al. [23]; Dammann et al. [24]
A336T (GCC → ACC)	Lung (nonsmall cell lung cancer cell line	No SNP ID found	Dammann et al. [24]

^%http://bioinf.umbc.edu/dmdm/gene_prot_page.php?search_type=gene&id=11186.
^$UniProtKB/Swiss-Prot.
*Validated by multiple, independent submissions to the refSNP cluster.
**Validated by frequency or genotype data: minor alleles observed in at least two chromosomes.
^#Validated by the 1000 Genomes Project, http://www.1000genomes.org/.