Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y101*
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BRCA1

NM_007294.4:p.Y101*

Associated Papers

Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.

Elmetnawy W et al.

Scientific Reports, 2025

Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.

Salazar Saez R et al.

Hereditary Cancer in Clinical Practice, 2024

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM6_ESM.xlsx › BRCA1

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › BRCA1

BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.

Mazzonetto P et al.

Breast Cancer Research and Treatment, 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-s002.xlsx › BRCA1

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Walsh T et al.

Npj Breast Cancer, 2021

33479248 (PubMed )
Supplement: 41523_2020_214_MOESM1_ESM.pdf

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.

Diop JPD et al.

Frontiers in Oncology, 2021

BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling.

Chao A et al.

Journal of Gynecologic Oncology, 2020

Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal.

Ndiaye R et al.

Npj Genomic Medicine, 2020

A Review of Cancer Genetics and Genomics Studies in Africa.

Rotimi SO et al.

Frontiers in Oncology, 2020

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS et al.

Genome Medicine, 2019

31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.pdf

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-s007.xlsx › CIMBA

Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

Sagna T et al.

Biomolecular Concepts, 2019

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

Copson ER et al.

The Lancet. Oncology, 2018

29337092 (PubMed )
Supplement: mmc1.pdf

Genetics of breast cancer in African populations: a literature review.

Abbad A et al.

Global Health, Epidemiology and Genomics, 2018

BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Alvarez C et al.

Oncotarget, 2017

Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.

Oluwagbemiga LA et al.

Springerplus, 2012

High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

Fackenthal JD et al.

International Journal of Cancer, 2012

Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry.

Zhang J et al.

Breast Cancer Research and Treatment, 2012

Evidence for an ancient BRCA1 mutation in breast cancer patients of Yoruban ancestry.

Zhang B et al.

Familial Cancer, 2009

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E et al.

Bmc Cancer, 2008

BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.

Russo A et al.

Breast Cancer Research and Treatment, 2007

Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients.

Onyia AF et al.

Technology in Cancer Research & Treatment, 0

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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."