|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
|
17591842 |
2007 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
|
28281021 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Assessment of functional effects of unclassified genetic variants.
|
18951449 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
|
21138478 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.
|
26360800 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
|
17924331 |
2007 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.
|
25628955 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Pyrimidine base damage is increased in women with BRCA mutations.
|
23583677 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
|
24916970 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
|
21719596 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
|
23983145 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
|
16489001 |
2006 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
|
18284688 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.
|
9792861 |
1998 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
|
17924331 |
2007 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.
|
20694749 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype.
|
18182994 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
|
23613520 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30.
|
19714488 |
2009 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The contribution of founder mutations to early-onset breast cancer in French-Canadian women.
|
19863560 |
2009 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.
|
20859677 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study.
|
10498392 |
1999 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Such subsets of familial pancreatic cancer involve germline cationic trypsinogen or PRSS1 mutations (hereditary pancreatitis), BRCA2 mutations (usually in association with hereditary breast-ovarian cancer syndrome), CDKN2 mutations (familial atypical mole and multiple melanoma), or DNA repair gene mutations (e.g., ATM and PALB2, apart from those in BRCA2).
|
24395243 |
2014 |