Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1943delFs
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BRCA2

NM_000059.4:p.S1943delFs

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › S2H.Vars_clinic_WES_Family

Germline loss-of-function BRCA1 and BRCA2 mutations and risk of de novo hematopoietic malignancies.

Stubbins RJ et al.

Haematologica, 2024

37139596 (PubMed )
Supplement: 2022_281580_STUBBINS_SUPPL.pdf

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3B

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

DeRoin L et al.

Human Mutation, 2022

35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3

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

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.

Singhal D et al.

Leukemia, 2021

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Lincoln SE et al.

Jama Network Open, 2020

33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf

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

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 › BRCA2_ethnic_sources_
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