Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T276fs
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BRCA1

NM_007294.4:p.T276fs

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Exploring the differences between BRCA mutated and HRwild-type high grade serous ovarian cancer: A multiomic analysis.

Alvero AB et al.

Gynecologic Oncology, 2025

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

BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.

Darabi S et al.

Medicina (kaunas, Lithuania), 2022

36557020 (PubMed )
Supplement: medicina-58-01818-s001.zip › medicina-2060065-supplementary.pdf

Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12.

Gallardo-Rincón D et al.

Frontiers in Genetics, 2022

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness.

Lovejoy LA et al.

Military Medicine, 2021

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Lovejoy LA et al.

Genes, 2020

Rucaparib Monotherapy in Patients With Pancreatic Cancer and a Known Deleterious BRCA Mutation.

Shroff RT et al.

Jco Precision Oncology, 2018

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD et al.

Human Mutation, 2017

Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.

Vaclová T et al.

Human Molecular Genetics, 2016

DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.

Vaclová T 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."