Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R2272fs
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BRCA2

NM_000059.4:p.R2272fs

Associated Papers

Genetic testing for BRCA1/2 variants in Northern African women with ovarian and breast cancers: a multicentre study of an under-represented ancestry.

Shohdy KS et al.

Esmo Open, 2025

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

Kerr SM et al.

American Journal of Human Genetics, 2025

40088892 (PubMed )
Supplement: mmc2.xlsx › All_actionable_variants_reporte

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

Kerr SM et al.

European Journal of Human Genetics : Ejhg, 2024

39438716 (PubMed )
Supplement: 41431_2024_1704_MOESM1_ESM.pdf

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

39061189 (PubMed )
Supplement: cancers-16-02547-s001.zip › cancers-3068792-supplementary.pdf

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1

Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.

Annala M et al.

European Urology, 2017

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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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."