|
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 |
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 |
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 |
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
About 30% of cases with hereditary breast and ovarian cancer have mutations in the BRCA1 and BRCA2 genes.
|
21042765 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.
|
19656164 |
2009 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family.
|
9537232 |
1998 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2.
|
12170759 |
2002 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
|
22762150 |
2012 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
|
23779253 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes, BRCA1, BRCA2 and PALB2, have been shown to recur in French Canadians of Quebec, Canada, and this has been attributed to common ancestors.
|
25925845 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations are responsible for hereditary breast and ovarian cancer, but they also confer an increased risk for the development of rarer cancers associated with this syndrome, namely, cancer of the pancreas, male breast, peritoneum, and fallopian tube.
|
27532258 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC).
|
27886673 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 and BRCA2 mutations account for an important fraction of hereditary breast and ovarian cancer cases.
|
18489799 |
2008 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Cancer variation associated with the position of the mutation in the BRCA2 gene.
|
15131399 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
|
29750819 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast and ovarian cancer.
|
11237395 |
2001 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.
|
20383589 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
|
23893897 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.
|
10699917 |
2000 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Many women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2.
|
28281021 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Data from BRCA1 and BRCA2 mutation carriers were compared with those from mutation-negative cases in the direct line of genetic inheritance from the same HBOC syndrome families.
|
10985881 |
2000 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
|
29368341 |
2018 |