Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.H1101R
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BRCA2

NM_000059.4:p.H1101R

Associated Papers

Internal Overview of Prostatic Cancer Cases and Quality of BRCA1 and BRCA2 NGS Data from the FFPE Tissue.

Antolini E et al.

Diagnostics (basel, Switzerland), 2024

Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.

Ustun Yilmaz S et al.

Genes, 2024

38927659 (PubMed )
Supplement: genes-15-00724-s001.zip › genes-2990258-supplementary.pdf

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Nacer DF et al.

Genome Medicine, 2023

37060015 (PubMed )
Supplement: 13073_2023_1177_MOESM2_ESM.xlsx › Table_S7

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.

Zanti M et al.

Frontiers in Genetics, 2023

37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

35753294 (PubMed )
Supplement: mmc1.pdf

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Harms PW et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34593967 (PubMed )
Supplement: NIHMS1739265-supplement-Supplemental_Tables.xlsx › S4-focused

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Hauke J et al.

Journal of Medical Genetics, 2022

33273034 (PubMed )
Supplement: jmedgenet-2020-107353supp001.pdf

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › BRCA2

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S7

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

BRCA1/BRCA2 Germline Mutation Carriers and Sporadic Pancreatic Ductal Adenocarcinoma.

Blair AB et al.

Journal of the American College of Surgeons, 2018

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Shindo K et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2017

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ et al.

Nucleic Acids Research, 2000

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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."