Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
G 0.700 GeneticVariation CLINVAR High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997

1998
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. 26287763

2015
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. 11844822

2002
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR A guide for functional analysis of BRCA1 variants of uncertain significance. 22753008

2012
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions. 11526114

2001
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. 8807330

1996
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. 11573085

2001
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80357530
rs80357530
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. 8651293

1996
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. 11896095

2002
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. 7837387

1995
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Performance of BRCA1/2 mutation prediction models in Asian Americans. 18779604

2008
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. 9042909

1997
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation. 20189727

2010
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477

2015
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. 8807330

1996
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791

2006
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. 15994883

2005
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier. 23086583

2013
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. 7611277

1995
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015