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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

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BRCA1 SyndromeBRCA1 geneHereditary Prostate CarcinomaHigh Grade Ovarian Serous Adenocarcinoma

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Abstract P6-08-30:BRCA1/2 tests and beyond, across a breast center population: 10 years analysis and review of mutations and variants of uncertain significance
Introduction: In our “Breast Center Buenos Aires” population of 3854 patients, accessibility of BRCA1/2 testing started at 2009… 
2017
2017
Prophylactic Oophorectomy for Patients with Germline BRCA Mutations
The prevalence of BRCA1 mutation and BRCA2 mutation in the general population ranges between 1/300 and 1/800. Both of these… 
2014
2014
Abstract 5483: Implications of the type ofBRCA1germline mutation in the treatment of patients with hereditary breast cancer
Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA Carrying an inherited mutation in BRCA1 or BRCA2 genes… 
2010
2010
Effect of BRCA1 gene and estrogen-receptor {alpha} on regulation of serum estradiol levels in women with breast cancer.
1536 Background: A BRCA1 gene mutation is well-known risk factor for breast cancer. Recently, BRCA1 gene was found to negatively… 
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… 
2009
2009
[An immunohistochemical study of aromatase, estrogen 4-hydroxylase and fatty acid synthetase in breast cancer tissues from BRCA1 mutation carriers].
Breast cancer in germline BRCA1 mutation carriers features a peculiar endocrine and metabolic profile which is yet to be studied… 
2008
2008
Loss of Heterozygosity at the BRCA 2 Locus Detected byMultiplex Ligation-Dependent ProbeAmplification is Common in Prostate Cancers fromMenwith a Germline BRCA 2 Mutation
Purpose: Prostate cancer risk is increased for men carrying a pathogenic germline mutation in BRCA2, and perhaps BRCA1. Our… 
2001
2001
No Significant Difference in Age at Menarche, Menstrual Cycle Length, Age at First Full-Term Pregnancy, and Nulliparity Among BRCA1 Mutation Carriers Compared with Their Unaffected Relatives
Early age at menarche, short menstrual cycle length, late age at first full-term pregnancy, and nulliparity are known risk… 
1999
1999
Frequency of p 53 Mutations in Breast Carcinomas From Ashkenazi Jewish Carriers of BRCA 1 Mutations
Background: Breast carcinomas occurring in carriers of BRCA1 gene mutations may have a distinctly different pathway of molecular…