Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1692Splc
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BRCA1

NM_007294.4:p.D1692Splc

Associated Papers

Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

Maistro S et al.

Bmc Cancer, 2016

27914478 (PubMed )
Supplement: 12885_2016_2966_MOESM1_ESM.zip › Additional_tables.xlsx › Table_S3

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.

Palmero EI et al.

Genetics and Molecular Biology, 2016

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Dodova RI et al.

Bmc Cancer, 2015

BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review.

Neamatzadeh H et al.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2015

A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

Palomba G et al.

Bmc Cancer, 2009

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.

Lee E et al.

Breast Cancer Research : Bcr, 2008

18284688 (PubMed )
Supplement: bcr1865-S3.doc

BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

Ang P et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Giannini G et al.

Breast Cancer Research and Treatment, 2006

[Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer].

Song CG et al.

Zhonghua Wai Ke Za Zhi [chinese Journal of Surgery], 2006

The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer.

Song CG et al.

Journal of Cancer Research and Clinical Oncology, 2006

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

Miolo G et al.

Bmc Cancer, 2006

BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

Capalbo C et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2006

[BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China].

Song CG et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

Yassaee VR et al.

Breast Cancer Research : Bcr, 2002

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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."