Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1795insFs
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BRCA1

NM_007294.4:p.L1795insFs

Associated Papers

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Contribution of BRCA1 5382insC mutation to triplene-gative and luminal types of breast cancer in Ukraine.

Samusieva A et al.

Breast Cancer Research and Treatment, 2022

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.

Borde J et al.

Bmc Cancer, 2022

35761208 (PubMed )
Supplement: 12885_2022_9780_MOESM5_ESM.xlsx › Tabelle1

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

Alemar B et al.

Cancer Genetics, 2016

BRCA1 mutation site may be linked with nuclear DNA ploidy in BRCA1-mutated ovarian carcinomas.

Aghmesheh M et al.

Asia-pacific Journal of Clinical Oncology, 2015

Delineating the effects BRCA1 and BRCA2 loss of heterozygosity in pancreatic cancer progression.

Fam HK

Clinical Genetics, 2014

p53-dependent BRCA1 nuclear export controls cellular susceptibility to DNA damage.

Jiang J et al.

Cancer Research, 2011

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin.

Wolf I et al.

Oncogene, 2010

Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations.

Kadouri L et al.

Journal of Medical Genetics, 2007

Allele age and a test for selection on rare alleles.

Slatkin M

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2000

Novel indications for BRCA1 screening using individual clinical and morphological features.

Eisinger F et al.

International Journal of Cancer, 1999

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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."