Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.C3069*
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BRCA2

NM_000059.4:p.C3069*

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A

Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.

Kastellan S et al.

Journal of Hematology & Oncology, 2024

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B et al.

Haematologica, 2023

35417938 (PubMed )
Supplement: 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx › Table_S2

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Biswas K et al.

Npj Genomic Medicine, 2020

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_

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E et al.

European Journal of Human Genetics : Ejhg, 2014

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Alter BP et al.

Journal of Medical Genetics, 2007

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

Reid S et al.

Journal of Medical Genetics, 2005

Fanconi anemia in Ashkenazi Jews.

Kutler DI et al.

Familial Cancer, 2004

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Offit K et al.

Journal of the National Cancer Institute, 2003

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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."