Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D1163delFs
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BRCA2

NM_000059.4:p.D1163delFs

Associated Papers

Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.

Duarte CAB et al.

Molecular Genetics & Genomic Medicine, 2024

Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novel BRCA2 candidate pathogenic variant is reported.

Duarte CAB et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas.

Kramer C et al.

The Journal of Pathology, 2024

Pan-cancer landscape of homologous recombination deficiency.

Nguyen L et al.

Nature Communications, 2020

33149131 (PubMed )
Supplement: 41467_2020_19406_MOESM7_ESM.xlsx › hgvs_c

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

Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

Palmirotta R et al.

International Journal of Molecular Sciences, 2018

Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands.

Vos JR et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

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