Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1755insFs
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BRCA2

NM_000059.4:p.E1755insFs

Associated Papers

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

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Sekine M et al.

Genes, 2021

A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Millan Catalan O et al.

Cancers, 2019

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-s006.xlsx › BRCA1_ethnic_source_

A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.

de Souza Timoteo AR et al.

Breast Cancer Research and Treatment, 2018

A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.

Diaz-Zabala HJ et al.

Cancers, 2018

BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High Resolution Melting Analysis (HRM).

Boulenouar ACS et al.

The Gulf Journal of Oncology, 2018

BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

Pilato B et al.

Genes, Chromosomes & Cancer, 2016

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.

Petersen AH et al.

European Journal of Human Genetics : Ejhg, 2016

Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.

de Oliveira ES et al.

Familial Cancer, 2016

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

High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.

Riahi A et al.

Familial Cancer, 2014

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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."