Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R2272delFs
Back to variants list

BRCA2

NM_000059.4:p.R2272delFs

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

40714512 (PubMed )
Supplement: mmc1.pdf

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

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Asian_only

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

35753294 (PubMed )
Supplement: mmc1.pdf

Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina

Martin CA et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2022

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Jara L et al.

Biological Research, 2017

28985766 (PubMed )
Supplement: 40659_2017_139_MOESM1_ESM.xlsx › TABLE_I

First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.

Meynard G et al.

Oncology Reports, 2017

Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

Tea MK et al.

Maturitas, 2014

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

Novaković S et al.

International Journal of Oncology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."