Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D1161_L1164delFs
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BRCA2

NM_000059.4:p.D1161_L1164delFs

Associated Papers

Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer.

Demarest K et al.

Jama Network Open, 2025

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.

Jiao Y et al.

Bmc Medical Research Methodology, 2021

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.

Turashvili G et al.

Cancers, 2020

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

De Talhouet S et al.

Scientific Reports, 2020

32341426 (PubMed )
Supplement: 41598_2020_63759_MOESM1_ESM.pdf

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s007.xlsx › CIMBA

[Hereditary predisposition to breast cancer (1): genetics].

Cohen-Haguenauer O

Medecine Sciences : M/s, 2019

Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.

El Tannouri R et al.

Familial Cancer, 2019

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J et al.

Bmc Cancer, 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.

Spugnesi L et al.

Genes, Chromosomes & Cancer, 2016

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R

The Epma Journal, 2010

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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."