Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E881*
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BRCA2

NM_000059.4:p.E881*

Associated Papers

Exceptional synergistic response of PARP inhibitor and immune checkpoint inhibitor in esophageal adenocarcinoma with a germline BRCA2 mutation: a case report.

Mahadevia H et al.

Therapeutic Advances in Medical Oncology, 2024

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.

Yanus GA et al.

Familial Cancer, 2023

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.

van der Merwe NC et al.

Frontiers in Oncology, 2022

Five Italian Families with Two Mutations in BRCA Genes.

Vietri MT et al.

Genes, 2020

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Inagaki-Kawata Y et al.

Communications Biology, 2020

33067557 (PubMed )
Supplement: 42003_2020_1301_MOESM1_ESM.pdf

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1

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-s007.xlsx › CIMBA

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

Nones K et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019

31090900 (PubMed )
Supplement: EMS83580-supplement-Supplementary_Data.zip › Suppl_Table1_Clinical_78_Final.xlsx › Sheet1

A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

van der Merwe NC et al.

Clinical Genetics, 2012

Founder mutations in BRCA1 and BRCA2 genes.

Ferla R et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

Reeves MD et al.

International Journal of Cancer, 2004

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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."