Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R71insFs
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BRCA1

NM_007294.4:p.R71insFs

Associated Papers

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 › MNS_only

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2

Identification of Shared Neoantigens in BRCA1-Related Breast Cancer.

Ruangapirom L et al.

Vaccines, 2022

36298462 (PubMed )
Supplement: vaccines-10-01597-s001.zip › vaccines-1858387-supplementary.pdf

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.

BenAyed-Guerfali D et al.

Genes, 2022

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.

Elalaoui SC et al.

Breast Cancer Research and Treatment, 2022

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

Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.

Ben Ayed-Guerfali D et al.

Journal of Translational Medicine, 2021

Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.

Hamdi Y et al.

Frontiers in Oncology, 2021

Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.

Mighri N et al.

Frontiers in Genetics, 2020

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.

Shamsani J et al.

Bioinformatics (oxford, England), 2019

30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1

Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.

Mahfoudh W et al.

Journal of Translational Medicine, 2019

BRCA mutation screening and patterns among high-risk Lebanese subjects.

Farra C et al.

Hereditary Cancer in Clinical Practice, 2019

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

30321405 (PubMed )
Supplement: gky979_supplemental_files.zip › Corrigendum_supplementary_table.xlsx › AllData

BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations

Belaiba F et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

29750258 (PubMed )
Supplement: gky372_supplemental_files.zip › SPiCE_table_supp.R2.xlsx › Table_S1

BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High Resolution Melting Analysis (HRM).

Boulenouar ACS et al.

The Gulf Journal of Oncology, 2018

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

Abbad A et al.

Global Health, Epidemiology and Genomics, 2018

Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families.

Riahi A et al.

Breast Cancer (tokyo, Japan), 2017

Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer.

Riahi A et al.

Journal of Theoretical Biology, 2016

Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.

Riahi A et al.

Clinical Genetics, 2015

BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.

Laraqui A et al.

Disease Markers, 2015

High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.

Riahi A et al.

Familial Cancer, 2014

Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer.

Fourati A et al.

Bulletin Du Cancer, 2014

Specific BRCA1 gene variations amongst young Moroccan breast cancer patients.

Tazzite A et al.

Genetics and Molecular Research : Gmr, 2014

Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

Laraqui A et al.

International Journal of Medical Sciences, 2013

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

22908982 (PubMed )
Supplement: 1750-1172-7-52-S3.xlsx › Feuil1

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C et al.

Human Mutation, 2012

BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries.

Cherbal F et al.

Breast Disease, 2012

Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer.

Troudi W et al.

Cancer Biomarkers : Section a of Disease Markers, 2008

Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia.

Troudi W et al.

Journal of Human Genetics, 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."