Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1334767632
rs1334767632
0.010 GeneticVariation BEFREE The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu. 31754952

2020

dbSNP: rs483353122
rs483353122
0.010 GeneticVariation BEFREE To the best of our knowledge, this report is the first to describe the highly pathogenic variant in the BRCA2 gene (rs483353122) and the likely damaging germline variant in the MUTYH gene (rs35352891) in Russian Mongoloid BC patients with young-onset and/or bilateral and/or familial BC. 31273614

2019

dbSNP: rs80358572
rs80358572
0.010 GeneticVariation BEFREE The two missense variants <i>BRCA2</i>:c.91T >G (p.Trp31Gly) and <i>PALB2</i>:c.3262C >T (p.Pro1088Ser) were detected in two breast cancer probands originally ascertained at Breast Cancer Units of Institutes located in Milan and Bergamo (Northern Italy), respectively. 30410870

2018

dbSNP: rs80359379
rs80359379
0.010 GeneticVariation BEFREE The two missense variants <i>BRCA2</i>:c.91T >G (p.Trp31Gly) and <i>PALB2</i>:c.3262C >T (p.Pro1088Ser) were detected in two breast cancer probands originally ascertained at Breast Cancer Units of Institutes located in Milan and Bergamo (Northern Italy), respectively. 30410870

2018

dbSNP: rs1801426
rs1801426
0.010 GeneticVariation BEFREE Our study confirmed BRCA2 p.Ile3412Val is presented in >2% of unaffected women and is likely benign, and BRCA2 p.Ala1996Thr which is predicted to be likely pathogenic by in-silico models is presented in 2% of healthy Indian women suggesting that it may not be associated with breast cancer risk. 28222693

2017

dbSNP: rs397507758
rs397507758
0.010 GeneticVariation BEFREE Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in familial index cases and geographically matched controls is pending. 28033443

2017

dbSNP: rs41293477
rs41293477
0.010 GeneticVariation BEFREE Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer. 28814288

2017

dbSNP: rs80358732
rs80358732
0.010 GeneticVariation BEFREE The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians. 28283652

2017

dbSNP: rs80358833
rs80358833
0.010 GeneticVariation BEFREE Our study confirmed BRCA2 p.Ile3412Val is presented in >2% of unaffected women and is likely benign, and BRCA2 p.Ala1996Thr which is predicted to be likely pathogenic by in-silico models is presented in 2% of healthy Indian women suggesting that it may not be associated with breast cancer risk. 28222693

2017

dbSNP: rs80359165
rs80359165
0.010 GeneticVariation BEFREE The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians. 28283652

2017

dbSNP: rs886040340
rs886040340
0.010 GeneticVariation BEFREE Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. 28319063

2017

dbSNP: rs15869
rs15869
0.010 GeneticVariation BEFREE Gene-reproductive factors interactions analysis revealed that rs15869 together with age at menarche and number of pregnancy could increase the risk of BC by 2.39-fold and TT genotype (OR 0.316; 95% CI 0.130-0.767) of rs8176318 had a significant association with progesterone receptor status in BC patients. 27807724

2016

dbSNP: rs765436962
rs765436962
0.010 GeneticVariation BEFREE The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer. 24390236

2014

dbSNP: rs4942440
rs4942440
0.010 GeneticVariation BEFREE Furthermore, there was suggestive evidence that the minor allele of SNP rs4942440, which is associated with higher BRCA2 expression, is also associated with a reduced risk of breast cancer (per-allele hazard ratio (HR) = 0.85, 95% confidence interval (CI) = 0.72 to 1.00, P-trend = 0.048). 22513257

2012

dbSNP: rs80358621
rs80358621
0.010 GeneticVariation BEFREE The p.Ala126Thr and p.Val169Ala variants have been reported to have no association with risk of breast cancer in a case-control study. 22476429

2012

dbSNP: rs80359152
rs80359152
0.010 GeneticVariation BEFREE The absence of BRCA2 c.9004G>A carriers in the breast cancer cases not selected for family history contrasts with familial cases, supporting a pathogenic status for this variant and addition to the existing common BRCA1 and BRCA2 mutation-screening panel for French Canadian breast and/or ovarian cancer families. 21947752

2012

dbSNP: rs11571707
rs11571707
0.010 GeneticVariation BEFREE A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study. 19851859

2010

dbSNP: rs1799944
rs1799944
0.010 GeneticVariation BEFREE Carriers of the BRCA2 rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08-1.83, P = 0.01) with P (trend) = 0.0076. 18553220

2009

dbSNP: rs1799955
rs1799955
0.010 GeneticVariation BEFREE However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk. 19229607

2009

dbSNP: rs1801439
rs1801439
0.010 GeneticVariation BEFREE However, both SNPs, BRCA2 Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk. 19229607

2009

dbSNP: rs80358462
rs80358462
0.010 GeneticVariation BEFREE Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands. 17972171

2008

dbSNP: rs397507293
rs397507293
0.010 GeneticVariation BEFREE We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC. 17504528

2007

dbSNP: rs80358702
rs80358702
0.010 GeneticVariation BEFREE When stratified by menopausal status, COMT Val158Met L/L (OR: 11.94; 95% CI: 1.48-96.03, P=0.02) and ERalpha PvuII P/p genotypes (OR: 2.67; 95% CI: 1.01-7.05, P=0.048) were associated with a significantly elevated risk of breast cancer in premenopausal women, and there was a association between ERalpha XbaI x/x genotype and the nonsignificantly increased risk of breast cancer in premenopausal women (OR: 6.88; 95% CI: 0.80-59.15, P=0.079). 17562079

2007

dbSNP: rs1057520611
rs1057520611
0.010 GeneticVariation BEFREE Four previously reported polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A>G in BRCA2) were detected in both controls and breast cancer patients. 17018160

2006

dbSNP: rs41293475
rs41293475
0.010 GeneticVariation BEFREE We identified the unclassified variant S384F in three of the four breast cancer patients (the three were diagnosed at 41, 43 and 57 years of age). 16168123

2005