Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E75_S76delFs
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BRCA1

NM_007294.4:p.E75_S76delFs

Associated Papers

Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.

Moukadem HA et al.

World Journal of Clinical Oncology, 2024

Tumor analysis of BRCA carriers reveals genomic similarities although separated by time.

Falick Michaeli T et al.

Discover Oncology, 2024

Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.

Bernstein-Molho R et al.

Cancer, 2024

Breast Cancer High-Penetrance Genes BRCA1 and BRCA2 Mutations Using Next-Generation Sequencing Among Iraqi Kurdish Women.

Hassan AN et al.

Cureus, 2024

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Abu Shtaya A et al.

Cancers, 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

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

Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.

Bernstein-Molho R et al.

Cancer, 2021

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

BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.

Farra C et al.

Bmc Medical Genetics, 2019

Functional coding and non-coding variants in human BRCA1 gene and their use in genetic screening.

Tuncel G et al.

Medical Oncology (northwood, London, England), 2019

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.

Barnes-Kedar I et al.

Breast Cancer Research and Treatment, 2018

The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2018

Penetrance of BRCA1/BRCA2 specific gene mutations in Iranian women with breast cancer.

Hashemian AH et al.

Saudi Medical Journal, 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."