Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E58*
Back to variants list

BRCA2

NM_000059.4:p.E58*

Associated Papers

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.

Sahu S et al.

Plos Genetics, 2023

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ENIGMA

Rad51 paralogs and the risk of unselected breast cancer: A case-control study.

Grešner P et al.

Plos One, 2020

Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland.

Smolarz B et al.

Pathology Oncology Research : Por, 2019

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › Total_BRCA1___BRCA2

Alterations in DNA Damage Repair Genes in Primary Liver Cancer.

Lin J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

Polymorphisms and mutations in GSTP1, RAD51, XRCC1 and XRCC3 genes in breast cancer patients.

Al Zoubi MS et al.

The International Journal of Biological Markers, 2017

Homozygous T172T and Heterozygous G135C Variants of Homologous Recombination Repairing Protein RAD51 are Related to Sporadic Breast Cancer Susceptibility.

Al-Zoubi MS et al.

Biochemical Genetics, 2016

Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer.

Wang M et al.

Journal of Biomedical Research, 2013

Association between the RAD51 135 G>C polymorphism and risk of cancer: a meta-analysis of 19,068 cases and 22,630 controls.

Wang W et al.

Plos One, 2013

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Muller D et al.

Bmc Medical Genetics, 2011

Variation in the RAD51 gene and familial breast cancer.

Lose F et al.

Breast Cancer Research : Bcr, 2006

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."