Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.N694delFs
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BRCA2

NM_000059.4:p.N694delFs

Associated Papers

Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment.

Scaglione GL et al.

Biomolecules, 2025

A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.

Gervas P et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Gervas P et al.

Bulletin of Experimental Biology and Medicine, 2024

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › BRCA1

New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.

Gervas P et al.

Molecular Biology Reports, 2019

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2015

BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Stordal B et al.

Molecular Oncology, 2013

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Heidemann S et al.

Breast Cancer Research and Treatment, 2012

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes.

de Juan Jiménez I et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Diez O et al.

Familial Cancer, 2010

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.

Esteban Cardeñosa E et al.

Breast Cancer Research and Treatment, 2010

A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer.

Rostagno P et al.

Journal of Human Genetics, 2003

Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.

Liede A et al.

Human Mutation, 2002

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

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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."