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BRCA1 Gene Mutation

Known as: BRCA1 Mutation, Mutation of the BRCA1 Gene 
A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small… 
National Institutes of Health

Related topics

Related topics

4 relations
BRCA1 SyndromeBRCA1 geneHereditary Prostate CarcinomaHigh Grade Ovarian Serous Adenocarcinoma

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Clinical background and outcomes of risk-reducing salpingo-oophorectomy for hereditary breast and ovarian cancers in Japan
BackgroundThis study aimed to identify the clinical background and treatment outcomes of risk-reducing salpingo-oophorectomy… 
2016
2016
Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific
BRCA1 mutation carriers face a high lifetime risk of developing both breast and ovarian cancer. Haploinsufficiency is thought to… 
2012
2012
Pathologic Features and Immunophenotype of Estrogen Receptor–positive Breast Cancers in BRCA1 Mutation Carriers
Although most breast cancers in BRCA1 mutation carriers are estrogen receptor negative (ER−) with a basal-like phenotype, up to… 
2011
2011
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers
The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in… 
2010
2010
Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation
Mutations in BRCA1 and BRCA2 genes confer a high risk of breast and ovarian cancer but the incomplete penetrance of these… 
2009
2009
Superior pathological complete response to neo-adjuvant chemotherapy in breast cancer amongst women with BRCA1/2 mutations.
CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts Abstract #5104 Background: Germline mutations in BRCA1 and BRCA2… 
Review
2004
Review
2004
BRCA1 status, molecular markers, clinical variables in breast cancer patients with high probability of having an inherited genetic mutation.
9648 Background: to evaluate the clinical features and outcomes of Breast Cancer (BC) patients with genetic susceptibility to… 
2001
2001
Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation in comparison to ataxia telangiectasia heterozygote cells
Our previous results indicated a close relationship between the presence of a BRCA1 mutation in lymphocytes and hypersensitivity… 
2000
2000
A BRCA1 mutation carrier with three breast primaries and childhood ionizing radiation treatments: A possible gene/environment interaction
We report here on a 37-year-old BRCA1 mutation carrier female who has had multiple primary breast cancers and a childhood history… 
1997
1997
Differences in phenotypic expression of a new BRCA1 mutation in identical twins
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