Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1813insFs
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BRCA1

NM_007294.4:p.D1813insFs

Associated Papers

RAD6B is a major mediator of triple negative breast cancer cisplatin resistance: Regulation of translesion synthesis/Fanconi anemia crosstalk and BRCA1 independence.

Haynes B et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations.

Thompson JF et al.

Genome Research, 2012

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2009

Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic.

Brooks GA et al.

Cancer Biology & Therapy, 2006

BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.

Sinilnikova OM et al.

Familial Cancer, 2006

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q.

Nathanson KL et al.

Human Molecular Genetics, 2002

BRCA mutations in Italian breast/ovarian cancer families.

Nedelcu R et al.

European Journal of Human Genetics : Ejhg, 2002

Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis.

Barker DF

Human Mutation, 2000

Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers.

Rebbeck TR et al.

Journal of the National Cancer Institute, 1999

PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations.

Hennessy LK et al.

Clinical Chemistry, 1998

BRCA1 mutations in young women with breast cancer.

Struewing JP et al.

Lancet (london, England), 1996

BRCA1 mutation update and analysis.

Grade K et al.

Journal of Cancer Research and Clinical Oncology, 1996

Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.

Couch FJ et al.

Journal of the National Cancer Institute. Monographs, 1995

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

Castilla LH et al.

Nature Genetics, 1994

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."