Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L3101P
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BRCA2

NM_000059.4:p.L3101P

Associated Papers

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_S4C

BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?

Fanale D et al.

Frontiers in Oncology, 2024

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K et al.

Cancer Science, 2023

37067535 (PubMed )
Supplement: CAS-114-2993-s001.pdf

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.

Hu C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.

Shinde SD et al.

Acs Omega, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.

Jasiewicz A et al.

Hereditary Cancer in Clinical Practice, 2022

High-throughput functional evaluation of BRCA2 variants of unknown significance.

Ikegami M et al.

Nature Communications, 2020

32444794 (PubMed )
Supplement: 41467_2020_16141_MOESM6_ESM.xlsx › Information_of_244_variants

A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing.

Ellison G et al.

Bmc Clinical Pathology, 2015

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