Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T1312T
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BRCA1

NM_007294.4:p.T1312T

Associated Papers

Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.

Bekos C et al.

Journal of Personalized Medicine, 2021

BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Alvarez C et al.

Oncotarget, 2017

Genetic predisposition to gastric cancer.

Petrovchich I et al.

Seminars in Oncology, 2016

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

Domagala P et al.

Plos One, 2015

BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

Ratajska M et al.

Oncology Reports, 2008

Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

Gallardo M et al.

Breast Cancer Research and Treatment, 2006

[Determination of a BRCA1 gene mutation in a family with hereditary breast cancer].

Gallardo M et al.

Revista Medica De Chile, 2004

Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors.

Tapia T et al.

Epigenetics, 0

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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."