Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2993*
Back to variants list

BRCA2

NM_000059.4:p.S2993*

Associated Papers

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

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

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_2

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA2

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S2_PVs__n_236_

Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.

Adedokun B et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.

Rath MG et al.

Breast Cancer Research and Treatment, 2012

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."