Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E1113*
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BRCA2

NM_000059.4:p.E1113*

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA2

Phase II study of nivolumab in patients with genetic alterations in DNA damage repair and response who progressed after standard treatment for metastatic solid cancers (KM-06).

Kim JW et al.

Journal for Immunotherapy of Cancer, 2024

38485184 (PubMed )
Supplement: jitc-2023-008638supp001.pdf

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer.

Morgan RD et al.

Cancers, 2023

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

De Talhouet S et al.

Scientific Reports, 2020

32341426 (PubMed )
Supplement: 41598_2020_63759_MOESM1_ESM.pdf

Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.

Kim HN et al.

Chonnam Medical Journal, 2019

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