rs80357914, BRCA1;NBR2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR
increased risk of pancreatic cancer
CUI: C1842408
Disease: increased risk of pancreatic cancer
0.700 CausalMutation CLINVAR
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
0.700 SusceptibilityMutation CLINVAR
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. 7894492 1994
Hereditary Breast and Ovarian Cancer Syndrome
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. 7550349 1995
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. 7550349 1995
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. 7611277 1995
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Germline BRCA1 185delAG mutations in Jewish women with breast cancer. 8642955 1996
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. 8571953 1996
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. 8531968 1996
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. 9145676 1997
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. 9921907 1998
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. 10090881 1999
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. 11352856 2001
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. 12473589 2002
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. 12566964 2003
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
Hereditary Breast and Ovarian Cancer Syndrome
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036 2005