Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.L138F
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RAD51C

NM_058216.3:p.L138F

Associated Papers

Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions.

Rein HL et al.

Nature Communications, 2025

40670332 (PubMed )
Supplement: 41467_2025_61283_MOESM3_ESM.xlsx › Sheet1

Rare variants modulating phenotype in NF1 carriers.

Pasquinelli E et al.

Scientific Reports, 2025

40653509 (PubMed )
Supplement: 41598_2025_9751_MOESM1_ESM.pdf

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Vietri MT et al.

International Journal of Molecular Sciences, 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

Germinal mutations among patients with breast cancer in Colombia: is BRCA3 coming?

Rojas LXR et al.

Ecancermedicalscience, 2025

Clinical Characteristics and Outcomes of Patients with Well-Differentiated Papillary Peritoneal Mesothelial Tumors.

Offin M et al.

Annals of Surgical Oncology, 2024

High-resolution functional mapping of RAD51C by saturation genome editing.

Olvera-León R et al.

Cell, 2024

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

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

RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles.

Longo MA et al.

Nature Communications, 2023

Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.

Kolinjivadi AM et al.

Human Molecular Genetics, 2023

In Silico-Based Structural Evaluation to Categorize the Pathogenicity of Mutations Identified in the RAD Class of Proteins.

Anwaar A et al.

Acs Omega, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

RAD51 paralogs: Expanding roles in replication stress responses and repair.

Bhattacharya D et al.

Current Opinion in Pharmacology, 2022

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

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.

Alenezi WM et al.

Cancers, 2022

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

Correction: Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: Implications for Fanconi anemia and breast cancer susceptibility.

Somyajit K et al.

The Journal of Biological Chemistry, 2019

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

Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart.

Somyajit K et al.

Nucleic Acids Research, 2015

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

Sopik V et al.

Clinical Genetics, 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

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

Park JY et al.

Oncogene, 2014

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

Gevensleben H et al.

Virchows Archiv : an International Journal of Pathology, 2014

PALB2: the hub of a network of tumor suppressors involved in DNA damage responses.

Park JY et al.

Biochimica Et Biophysica Acta, 2014

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

Osorio A et al.

Human Molecular Genetics, 2012

Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.

Somyajit K et al.

The Journal of Biological Chemistry, 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

RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis.

Suwaki N et al.

Seminars in Cell & Developmental Biology, 2011

RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer.

Somyajit K et al.

Carcinogenesis, 2010

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Meindl A et al.

Nature Genetics, 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."