Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years. 31347298

2019

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T). 24528374

2015

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE To estimate the hereditary proportion of breast cancer in Belarus, we sought the presence of any of three founder mutations in BRCA1 (4153delA, 5382insC and C61G) in 500 unselected cases of breast cancer. 20507347

2010

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer. 20345474

2010

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01). 20569256

2010

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521

2006

dbSNP: rs28897672
rs28897672
0.770 GeneticVariation BEFREE The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) than were either of the truncating BRCA1 mutations 4153delA (OR=2.0) and 5382insC (OR=6.2). 15980987

2005

dbSNP: rs28897672
rs28897672
C 0.770 CausalMutation CLINVAR

dbSNP: rs80357474
rs80357474
0.710 GeneticVariation BEFREE Moreover, the c.5339T>C variant in the <i>BRCA1</i> gene was detected in four patients with a family history of breast cancer. 27658390

2017

dbSNP: rs80356898
rs80356898
0.710 GeneticVariation BEFREE A human tumor xenograft (L56Br-X1) was established from a breast cancer axillary lymph node metastasis of a 53-year-old woman with a BRCA1 germ-line nonsense mutation (1806C>T; Q563X), and a cell line (L56Br-C1) was subsequently derived from the xenograft. 12649339

2003

dbSNP: rs80356898
rs80356898
A 0.710 CausalMutation CLINVAR

dbSNP: rs80357474
rs80357474
G 0.710 CausalMutation CLINVAR

dbSNP: rs80357522
rs80357522
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs80357678
rs80357678
C 0.700 GeneticVariation CLINVAR

dbSNP: rs799917
rs799917
0.060 GeneticVariation BEFREE Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. 29209986

2019

dbSNP: rs799917
rs799917
0.060 GeneticVariation BEFREE BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis. 30832521

2019

dbSNP: rs799917
rs799917
0.060 GeneticVariation BEFREE In summary, based on the overall results, this meta-analysis strongly suggests that the BRCA1 rs799917 polymorphism is not associated with breast cancer risk. 25194442

2014

dbSNP: rs799917
rs799917
0.060 GeneticVariation BEFREE To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control population study and observed that germline occurrence of rs799917-BRCA1 and rs334348-TGFR1 significantly varies among populations with different risks of developing BC. 20332227

2010

dbSNP: rs799917
rs799917
0.060 GeneticVariation BEFREE In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. 19205873

2009

dbSNP: rs799917
rs799917
0.060 GeneticVariation BEFREE Joint effect analyses indicated that all the variant genotypes of ZNF350 polymorphisms accounted for increased breast cancer risk among subjects carrying variant homozygote of BRCA1 rs799917, particularly for ZNF350 rs4986773 (OR = 2.03, 95%CI = 1.02-4.05, the test for gene-gene interaction P (int) = 0.059). 19484476

2009

dbSNP: rs748876625
rs748876625
0.040 GeneticVariation BEFREE The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each. 23375855

2013

dbSNP: rs748876625
rs748876625
0.040 GeneticVariation BEFREE Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. 21503673

2011

dbSNP: rs748876625
rs748876625
0.040 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
0.040 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: rs41293459
rs41293459
0.030 GeneticVariation BEFREE We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly) and c.5096G > A (p.Arg1699Gln) in a woman with breast cancer diagnosed at the age of 30 years. 31347298

2019