Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.W31S
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BRCA2

NM_000059.4:p.W31S

Associated Papers

Research Progress on BRCA1/2 Mutations in Sporadic Gastric Cancer: Risk Stratification, Surgical Prognosis, and Individualized Treatment.

Chen M et al.

Annali Italiani Di Chirurgia, 2026

Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.

Rashid MU et al.

International Journal of Cancer, 2025

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.

Bose M et al.

The Journal of Clinical Investigation, 2025

40232841 (PubMed )
Supplement: jci-135-181879-s033.xlsx › Supplementary_Table_4

Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing.

Li F et al.

American Journal of Translational Research, 2024

Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.

Joshi G et al.

Journal of Medical Genetics, 2023

Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.

Alghanim HM et al.

Pediatric Hematology and Oncology, 2023

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.

Julien M et al.

Biomolecules, 2021

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Tubeuf H et al.

Cancer Research, 2020

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Håkansson S et al.

American Journal of Human Genetics, 1997

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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."