Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1162fs
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BRCA1

NM_007294.4:p.D1162fs

Associated Papers

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

Wang Y et al.

Bmc Medicine, 2024

38191387 (PubMed )
Supplement: 12916_2023_3233_MOESM3_ESM.docx

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.pdf

Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.

Setton J et al.

Nature, 2023

37587346 (PubMed )
Supplement: 41586_2023_6461_MOESM10_ESM.xlsx › EDF4B_ONCOTABLE

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Hakkaart C et al.

Communications Biology, 2022

36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V et al.

European Journal of Human Genetics : Ejhg, 2022

34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1

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

de Jonge MM et al.

The Journal of Molecular Diagnostics : Jmd, 2018

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

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

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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."