Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1125_P1126delFs
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BRCA1

NM_007294.4:p.S1125_P1126delFs

Associated Papers

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.

Apostolou P et al.

Cancers, 2024

39001430 (PubMed )
Supplement: cancers-16-02368-s001.zip › cancers-3067616-supplementary.pdf

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 › Japanese

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

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

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients.

Liontos M et al.

Current Oncology (toronto, Ont.), 2021

BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects.

Apostolou P et al.

International Journal of Cancer, 2020

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

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

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-s006.xlsx › BRCA1_ethnic_source_

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

Apessos A et al.

Cancer Genetics, 2018

The fate of BRCA1-related germline mutations in triple-negative breast tumors.

Kotoula V et al.

American Journal of Cancer Research, 2017

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

Konstantopoulou I et al.

Clinical Genetics, 2014

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

Stavropoulou AV et al.

Plos One, 2013

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.

Fostira F et al.

Breast Cancer Research and Treatment, 2012

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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."