Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs799917
rs799917
0.030 GeneticVariation BEFREE However, subgroup analyses revealed that the rs799917 polymorphism could decrease the risk of cervical cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, and non-Hodgkin lymphoma (NHL) among Asian populations in one or more genetic models and that rs16941 could increase overall cancer risk among Caucasian populations in the homozygote and recessive models. 29492227

2018

dbSNP: rs799917
rs799917
0.030 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer. 28427168

2017

dbSNP: rs799917
rs799917
0.030 GeneticVariation BEFREE Genotyping of BRCA1 and BRCA2 in the Italian family revealed the presence of two significant polymorphisms: the cancer-associated c.2612C>T SNP in BRCA1, and the c.-26G>A SNP in the BRCA2 gene, acting as an ovarian cancer risk modifier in carriers of deleterious BRCA1 mutations. 19287957

2009

dbSNP: rs16941
rs16941
0.020 GeneticVariation BEFREE However, subgroup analyses revealed that the rs799917 polymorphism could decrease the risk of cervical cancer, esophageal squamous cell carcinoma (ESCC), gastric cancer, and non-Hodgkin lymphoma (NHL) among Asian populations in one or more genetic models and that rs16941 could increase overall cancer risk among Caucasian populations in the homozygote and recessive models. 29492227

2018

dbSNP: rs1799966
rs1799966
0.020 GeneticVariation BEFREE The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk. 29492227

2018

dbSNP: rs41293459
rs41293459
0.020 GeneticVariation BEFREE We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer. 22889855

2012

dbSNP: rs41293459
rs41293459
0.020 GeneticVariation BEFREE We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer. 22889855

2012

dbSNP: rs28897672
rs28897672
0.020 GeneticVariation BEFREE We have previously reported BRCA1 proteins unlike K109R and cancer-predisposing mutant C61G to bind Ubc9 and modulate ER-α turnover. 21344391

2011

dbSNP: rs1799966
rs1799966
0.020 GeneticVariation BEFREE We determined the predicted cancer association of 22 BRCA1 variants and verified that the common polymorphism S1613G has no effect on BRCA1 function, even when combined with other rare variants. 17308087

2007

dbSNP: rs41293459
rs41293459
0.020 GeneticVariation BEFREE The results also raise the possibility that A1708V and R1699Q may be associated with a low or moderate risk of cancer. 18036263

2007

dbSNP: rs786203797
rs786203797
0.020 GeneticVariation BEFREE In contrast, cells carrying the XRCC3 D213N variant are able to eliminate aberrant cells by apoptosis, and consistent with this observation, this variant does not seem to be associated with cancer susceptibility. 16505003

2006

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: rs16941
rs16941
0.020 GeneticVariation BEFREE A significant increase in the cancer risk associated either with harboring one additional putative high-risk NHEJ genotype or with the joint effect of having reproductive risk factors (reflected by an interval of > or =12 years between menarche and first full-term pregnancy) and a higher number of high-risk genotypes of the NHEJ genes was only seen in women with at least one variant BRCA1 allele (i.e., the Glu/Gly or Gly/Gly forms of BRCA1 Glu(1038)Gly); and (b) a phenotype-based study measuring in vitro and in vivo NHEJ capacity showed that the precise end-joining capacity was different in breast cancer cell lines with different BRCA1 statuses being higher in BRCA1-expressing MCF-7 cells than in HCC1937 cells (defective BRCA1 expression). 15256476

2004

dbSNP: rs786203797
rs786203797
0.020 GeneticVariation BEFREE Thus we have no evidence that D213N increases the risk of cancer. 12668615

2003

dbSNP: rs748876625
rs748876625
0.020 GeneticVariation BEFREE The prevalence of 3 BRCA1 mutations (185delAG, 300T-->G and 5382insC) and 2 BRCA2 mutations (6174delT and 9326insA) was evaluated in a hospital-based consecutive series of 500 female breast cancer patients and 90 ovarian cancer patients, not selected for age at diagnosis or family history of cancer, as well as in 350 controls. 10797299

2000

dbSNP: rs1800709
rs1800709
0.020 GeneticVariation BEFREE The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K. 9585599

1998

dbSNP: rs28897672
rs28897672
0.020 GeneticVariation BEFREE The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. 9525870

1998

dbSNP: rs1800709
rs1800709
0.020 GeneticVariation BEFREE Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent. 8968716

1996

dbSNP: rs80356991
rs80356991
0.010 GeneticVariation BEFREE Two BRCA1 variants, R133H and E143K, and a RACK1 variant, K280E, associated with cancer, which weakened the BRCA1-RACK1 interaction, interfered with the centrosomal localization of BRCA1 and reduced centrosome amplification induced by overexpression of RACK1. 30617304

2019

dbSNP: rs80357086
rs80357086
0.010 GeneticVariation BEFREE <b>Conclusions:</b> A high proportion of Japanese HBOC patients showed the <i>BRCA1</i> L63X mutation, and the clinical characteristics of breast cancer in patients with this mutation might differ from those in patients with other <i>BRCA1</i> or <i>BRCA2</i> mutations, in terms of the subtype and nuclear grade of the resultant cancer. 31143373

2019

dbSNP: rs80357357
rs80357357
0.010 GeneticVariation BEFREE Two BRCA1 variants, R133H and E143K, and a RACK1 variant, K280E, associated with cancer, which weakened the BRCA1-RACK1 interaction, interfered with the centrosomal localization of BRCA1 and reduced centrosome amplification induced by overexpression of RACK1. 30617304

2019

dbSNP: rs1799950
rs1799950
0.010 GeneticVariation BEFREE The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk. 29492227

2018

dbSNP: rs397508986
rs397508986
0.010 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer. 28427168

2017

dbSNP: rs397509239
rs397509239
0.010 GeneticVariation BEFREE BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. 23269703

2013

dbSNP: rs45553935
rs45553935
0.010 GeneticVariation BEFREE BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. 23269703

2013