Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.H1932fs
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BRCA2

NM_000059.4:p.H1932fs

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM9_ESM.xlsx › Western_Asian_BRCA2

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

39061189 (PubMed )
Supplement: cancers-16-02547-s001.zip › cancers-3068792-supplementary.pdf

Germline DNA-Repair Genes and HOXB13 Mutations in Korean Men with Metastatic Prostate Cancer: Data from a Large Korean Cohort.

Song SH et al.

The World Journal of Men's Health, 2023

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

Vidra R et al.

International Journal of Environmental Research and Public Health, 2022

Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21).

Artioli G et al.

Gynecologic Oncology, 2021

Five Italian Families with Two Mutations in BRCA Genes.

Vietri MT 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

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Yang XR et al.

Human Genetics, 2016

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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."