Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2546P
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BRCA2

NM_000059.4:p.S2546P

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S3

In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2.

Khan MA et al.

Journal of Biomolecular Structure & Dynamics, 2023

36404616 (PubMed )
Supplement: supplement_1.pdf

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C et al.

Cancers, 2020

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Caleca L et al.

Cancers, 2019

Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.

Santonocito C et al.

Breast (edinburgh, Scotland), 2017

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

Palomba G et al.

Bmc Cancer, 2009

Identification of a founder BRCA2 mutation in Sardinian breast cancer families.

Monne M et al.

Familial Cancer, 2007

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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."