Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748876625
rs748876625
0.020 GeneticVariation BEFREE Screening for three mutations (5382insC, 4154delA and 300T>G) was carried out in 55 breast cancer and 66 ovarian cancer patients, and for two mutations, 5382insC and 4154delA, in 376 unselected patients with any cancer (including 51 breast cancer and 29 ovarian cancers) and 215 women with any gynaecological tumour. 15951956

2005

dbSNP: rs748876625
rs748876625
0.020 GeneticVariation BEFREE We found that an exogenous BRCA1 gene strongly inhibited telomerase enzymatic activity in human prostate and breast cancer cell lines and caused telomere shortening in cell lines expressing wild-type BRCA1 (wtBRCA1) but not a tumor-associated mutant BRCA1 (T300G). wtBRCA1 inhibited the expression of the catalytic subunit (telomerase reverse transcriptase [TERT]) but had no effect on the expression of a subset of other components of the telomerase holoenzyme or on the expression of c-Myc, a transcriptional activator of TERT. 14612409

2003

dbSNP: rs62625308
rs62625308
0.010 GeneticVariation BEFREE In another case, EML4-ALK fusion detected in the primary tumor was associated with ALK G1202R secondary resistance mutation in the post-treatment metastasis. 30946933

2019

dbSNP: rs431825412
rs431825412
0.010 GeneticVariation BEFREE Four PIK3CA mutations (p.G106A, p.N345T, p.E545K, and p.E545D) were detected in 3 tumors, 2 of which also harbored TP53 mutations. 29505425

2018

dbSNP: rs1060502346
rs1060502346
0.010 GeneticVariation BEFREE Whole-exome sequencing of a breast cancer from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tumor displays hallmark genomic features of tumors with BRCA mutations and HR defects, cementing the pathogenicity of L35P. 28319063

2017

dbSNP: rs786203319
rs786203319
0.010 GeneticVariation BEFREE Whole-exome sequencing of a breast cancer from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tumor displays hallmark genomic features of tumors with BRCA mutations and HR defects, cementing the pathogenicity of L35P. 28319063

2017

dbSNP: rs80357750
rs80357750
0.010 GeneticVariation BEFREE Whole-exome sequencing of a breast cancer from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tumor displays hallmark genomic features of tumors with BRCA mutations and HR defects, cementing the pathogenicity of L35P. 28319063

2017

dbSNP: rs886039920
rs886039920
0.010 GeneticVariation BEFREE Whole-exome sequencing of a breast cancer from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tumor displays hallmark genomic features of tumors with BRCA mutations and HR defects, cementing the pathogenicity of L35P. 28319063

2017

dbSNP: rs397508906
rs397508906
0.010 GeneticVariation BEFREE Moreover, two NER mutations (ERCC6-Q524* and ERCC4-A583T), identified in the two most platinum-sensitive tumors, were functionally associated with platinum sensitivity in vitro. 25634215

2015

dbSNP: rs80357091
rs80357091
0.010 GeneticVariation BEFREE ERCC1 (C8092A, C118T), XPD (Lys751Gln), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms were evaluated on tumour DNA by TaqMan allelic discrimination assay. 23549037

2013

dbSNP: rs80357610
rs80357610
0.010 GeneticVariation BEFREE ERCC1 (C8092A, C118T), XPD (Lys751Gln), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms were evaluated on tumour DNA by TaqMan allelic discrimination assay. 23549037

2013

dbSNP: rs397509205
rs397509205
0.010 GeneticVariation BEFREE DNA sequencing for E1644X mutation and five BRCA1 exon-11 single nucleotide polymorphisms showed tumor LOH. 18311584

2009

dbSNP: rs80356952
rs80356952
0.010 GeneticVariation BEFREE The PHB 163</span>0 C/T single nucleotide polymorphism was associated with breast cancers with clinical features typical for BRCA1-positive tumours and is deserving of further study. 19071013

2009

dbSNP: rs80357107
rs80357107
0.010 GeneticVariation BEFREE BRCA1 variants IVS18+1 G>T (del exon 18) and 5632 T >A (V1838E) were classified as pathogenic, with >99% posterior probability of being deleterious, and tumor histopathology was particularly important for their classification. 18375895

2008

dbSNP: rs28897696
rs28897696
0.010 GeneticVariation BEFREE For A1708E, previously shown to be functionally compromised, analysis of oestrogen receptor, cytokeratin 5/6, and cytokeratin 14 tumour expression data significantly strengthened the prediction of pathogenicity, giving a posterior probability of pathogenicity of 99%. 18036263

2007

dbSNP: rs62625307
rs62625307
0.010 GeneticVariation BEFREE To investigate the potential consequences of somatic heterozygosity for a BRCA1 mutation demonstrably associated with breast carcinogenesis on background somatic mutational burden, we applied the two standard assays of in vivo human somatic mutation to blood samples from a manifesting carrier of the Q1200X mutation in BRCA1 whose tumor was uniquely ascertained through an MRI screening study. 18158561

2007

dbSNP: rs876659253
rs876659253
0.010 GeneticVariation BEFREE The increased rate of tumor formation in MMTV-CHK2-D347A mice, compared with the relatively low incidence in chk2-null mice, provides a model to study modifiers of CHK2-dependent transformation. 16488990

2006

dbSNP: rs1057522527
rs1057522527
0.010 GeneticVariation BEFREE The c.1116G>A (1235G>A) nonsense mutation (p.W372X) belongs to the genetic abnormalities detected infrequently in hereditary tumors; the c.3862delG (3981delG) frameshift mutation (p.E1288fsX1306) is a novel gene alteration. 15712267

2005

dbSNP: rs397508838
rs397508838
0.010 GeneticVariation BEFREE The c.1116G>A (1235G>A) nonsense mutation (p.W372X) belongs to the genetic abnormalities detected infrequently in hereditary tumors; the c.3862delG (3981delG) frameshift mutation (p.E1288fsX1306) is a novel gene alteration. 15712267

2005

dbSNP: rs80357468
rs80357468
0.010 GeneticVariation BEFREE The c.1116G>A (1235G>A) nonsense mutation (p.W372X) belongs to the genetic abnormalities detected infrequently in hereditary tumors; the c.3862delG (3981delG) frameshift mutation (p.E1288fsX1306) is a novel gene alteration. 15712267

2005