Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L2740*
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BRCA2

NM_000059.4:p.L2740*

Associated Papers

Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.

Gheybi K et al.

Nature Communications, 2025

Saturation genome editing-based clinical classification of BRCA2 variants.

Sahu S et al.

Nature, 2025

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

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

Biswas K et al.

Npj Genomic Medicine, 2020

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

A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Millan Catalan O et al.

Cancers, 2019

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

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

Hirsch B et al.

Blood, 2004

Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.

Popp H et al.

Cytogenetic and Genome Research, 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."