Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R2336Splc
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BRCA2

NM_000059.4:p.R2336Splc

Associated Papers

5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.

Sokolenko AP et al.

Familial Cancer, 2025

Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.

Zheng Y et al.

International Journal of Cancer, 2025

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.

Sahu S et al.

Plos Genetics, 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_latino_both

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.

Yanus GA et al.

Familial Cancer, 2023

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.

Lattimore V et al.

Breast Cancer Research and Treatment, 2021

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.

Vargas E et al.

The Oncologist, 2019

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Pal T et al.

Cancer, 2015

Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

Litton JK et al.

Cancer, 2012

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Hall MJ et al.

Cancer, 2009

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF et al.

American Journal of Human Genetics, 2007

Founder mutations in BRCA1 and BRCA2 genes.

Ferla R et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007

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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."