Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.P2153L
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BRCA2

NM_000059.4:p.P2153L

Associated Papers

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.

Benet-Pagès A et al.

Genetics in Medicine Open, 2025

40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › BRCA2

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.xlsx › Sheet1

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J et al.

Breast Cancer Research and Treatment, 2015

26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants

Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

Torres-Mejía G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2015

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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."