Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.E49Splc
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RAD51C

NM_058216.3:p.E49Splc

Associated Papers

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.

Sanoguera-Miralles L et al.

Cancers, 2022

35740625 (PubMed )
Supplement: cancers-14-02960-s001.zip › Supplementary_Table_S1-Bioinformatics_analysis_ClinVar.pdf

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Sanoguera-Miralles L et al.

Cancers, 2020

33333735 (PubMed )
Supplement: cancers-12-03771-s001.zip › cancers-988386_SM_proofreading › cancers-988386_Supplementary_Tables_S1_S2_S3.pdf

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

Jønson L et al.

Breast Cancer Research and Treatment, 2016

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Yorczyk A et al.

Clinical Genetics, 2015

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

Germline mutations in RAD51C in Jewish high cancer risk families.

Kushnir A et al.

Breast Cancer Research and Treatment, 2012

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

Romero A et al.

Breast Cancer Research and Treatment, 2011

RAD51C germline mutations in breast and ovarian cancer patients.

Akbari MR et al.

Breast Cancer Research : Bcr, 2010

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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."