Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L2805fs
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BRCA2

NM_000059.4:p.L2805fs

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA2

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

39226054 (PubMed )
Supplement: jamanetwopen-e2431427-s001.pdf

Hereditary variants of unknown significance in African American women with breast cancer.

McDonald JT et al.

Plos One, 2022

Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.

Lovejoy LA et al.

Familial Cancer, 2021

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Lovejoy LA et al.

Genes, 2020

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS et al.

Genome Medicine, 2019

31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.pdf
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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."