Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V1833fs
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BRCA1

NM_007294.4:p.V1833fs

Associated Papers

Letter re: Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study: Ethnic difference in BRCT domain response to PARP inhibitor.

Kim JH et al.

Esmo Open, 2025

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-s006.xlsx › BRCA1

Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.

Kim J et al.

Human Genomics, 2023

Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.

Ha C et al.

Frontiers in Genetics, 2023

Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Bang YJ et al.

Cancer Research and Treatment, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

Clinical Characteristics and Exploratory Genomic Analyses of Germline BRCA1 or BRCA2 Mutations in Breast Cancer.

Park S et al.

Molecular Cancer Research : Mcr, 2020

Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Choi MC et al.

Cancer Research and Treatment, 2020

An optimized BRCA1/2 next-generation sequencing for different clinical sample types.

Kim Y et al.

Journal of Gynecologic Oncology, 2020

GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2.

Lee EJ et al.

Annals of Clinical and Laboratory Science, 2020

BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

Kim DH et al.

Journal of Gynecologic Oncology, 2018

Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.

Choi MC et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2018

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Park JS et al.

Cancer Research and Treatment, 2017

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Park B et al.

Breast Cancer Research and Treatment, 2017

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

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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."