Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2143*
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BRCA2

NM_000059.4:p.S2143*

Associated Papers

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-s011.xlsx › BRCA2

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Wei CH et al.

Plos One, 2023

37310942 (PubMed )
Supplement: pone.0286998.s001.pdf

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.

Elalaoui SC et al.

Breast Cancer Research and Treatment, 2022

Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer.

McClurg DP et al.

Cancers, 2022

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.

Diop JPD et al.

Bmc Medical Genetics, 2019

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Park JS et al.

Cancer Research and Treatment, 2017

28111427 (PubMed )
Supplement: crt-2016-433-supple1.xlsx › S1_Table

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Shin S et al.

Oncotarget, 2017

28422718 (PubMed )
Supplement: oncotarget-08-34858-s002.xlsx › Table_1

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.

Shin S et al.

Breast Cancer Research and Treatment, 2016

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Guaoua S et al.

African Health Sciences, 2014

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