Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.Q143R
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RAD51C

NM_058216.3:p.Q143R

Associated Papers

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

39945023 (PubMed )
Supplement: 2024_286887_KOROTEV_SUPPL.pdf

Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.

Wasson JL et al.

Familial Cancer, 2025

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S2

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1

Germline variants of homology-directed repair or mismatch repair genes in cervical cancer.

Kokemüller L et al.

International Journal of Cancer, 2025

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Hu C et al.

Cancer Research, 2023

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.

Herold N et al.

Cancer Medicine, 2023

37345881 (PubMed )
Supplement: CAM4-12-15256-s001.xlsx › Table_S1

Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.

Carvalho CM et al.

Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2023

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.

Lim BWX et al.

Npj Breast Cancer, 2022

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Schwartz A et al.

Frontiers in Oncology, 2022

36091175 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3

Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

Gong Y et al.

International Journal of Molecular Sciences, 2021

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.

Soukupová J et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2021

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

Pearlman R et al.

Jco Precision Oncology, 2021

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

Gayarre J et al.

British Journal of Cancer, 2017

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

Genetic testing for RAD51C mutations: in the clinic and community.

Sopik V et al.

Clinical Genetics, 2015

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Song H et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

Ahlborn LB et al.

Familial Cancer, 2015

Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.

Somyajit K et al.

Carcinogenesis, 2015

Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.

Gevensleben H et al.

Virchows Archiv : an International Journal of Pathology, 2014

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Blanco A et al.

Breast Cancer Research and Treatment, 2014

Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.

Rashid MU et al.

Breast Cancer Research and Treatment, 2014

Germline mutations in RAD51C in Jewish high cancer risk families.

Kushnir A et al.

Breast Cancer Research and Treatment, 2012

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

Osorio A et al.

Human Molecular Genetics, 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

[Prerequisites for preimplantation genetic diagnosis (PGD in carriers of mutations responsible for hereditary cancers].

Hüttelová R et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2009

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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."