Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q2859*
Back to variants list

BRCA2

NM_000059.4:p.Q2859*

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_S4A

Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).

Pitiot AS et al.

Clinical Genetics, 2024

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Di Rado S et al.

Cancers, 2023

Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.

Biswas K et al.

Cell Reports Methods, 2023

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Adam F et al.

Bmc Medical Genomics, 2023

36647026 (PubMed )
Supplement: 12920_2023_1437_MOESM2_ESM.xlsx › all_cases

Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Wildin RS et al.

Journal of Personalized Medicine, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2

Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.

Hartman TR et al.

Scientific Reports, 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Pritzlaff M et al.

Breast Cancer Research and Treatment, 2017

Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

Ding YC et al.

Breast Cancer Research and Treatment, 2011

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Lee E et al.

Breast Cancer Research : Bcr, 2008

18284688 (PubMed )
Supplement: bcr1865-S3.doc
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."