Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C1146_S1147delFs
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BRCA1

NM_007294.4:p.C1146_S1147delFs

Associated Papers

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › BRCA1_2_findings

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

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

Elmetnawy W et al.

Scientific Reports, 2025

Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.

Tuncer SB et al.

Pathology, Research and Practice, 2024

Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.

Abdel-Razeq H et al.

Molecular Genetics & Genomic Medicine, 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-s005.xlsx › Chinese

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

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Wei CH et al.

Plos One, 2023

37310942 (PubMed )
Supplement: pone.0286998.s001.pdf

MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Karalidou V et al.

Biomolecules, 2022

36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1

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

Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.

Stegel V et al.

Cancers, 2022

35326583 (PubMed )
Supplement: cancers-14-01434-s001.zip › cancers-1614158-supplementary.pdf

Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.

Zong H et al.

Journal of Cancer, 2022

Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Azribi F et al.

Bmc Cancer, 2021

Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.

Abdel-Razeq H et al.

Scientific Reports, 2021

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

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

Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.

Gornjec A et al.

Bmc Cancer, 2019

Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Yi D et al.

Human Genomics, 2019

30630526 (PubMed )
Supplement: 40246_2018_186_MOESM2_ESM.xlsx › Sheet1

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

Farra C et al.

Hereditary Cancer in Clinical Practice, 2019

Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.

de Jonge MM et al.

The Journal of Molecular Diagnostics : Jmd, 2018

Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.

Apessos A et al.

Cancer Genetics, 2018

Clinical and genetic characterization of hereditary breast cancer in a Chinese population.

Jian W et al.

Hereditary Cancer in Clinical Practice, 2017

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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

Novaković S et al.

International Journal of Oncology, 2012

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2012

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.

van der Stoep N et al.

Human Mutation, 2009

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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."