Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.Q192_V193Splc
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RAD51D

NM_002878.4:p.Q192_V193Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Ngeow J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Demir O et al.

American Journal of Medical Genetics. Part A, 2024

Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families.

Kwong A et al.

Journal of Personalized Medicine, 2024

39202057 (PubMed )
Supplement: jpm-14-00866-s001.zip › jpm-3121883-supplementary.pdf

Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.

Barili V et al.

Genes, 2024

Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.

Nurmi AK et al.

Cancers, 2022

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.

Graffeo R et al.

Breast (edinburgh, Scotland), 2022

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.

Yang X et al.

Journal of the National Cancer Institute, 2020

32107557 (PubMed )
Supplement: djaa030_supplementary_data.pdf

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.

Suszynska M et al.

Journal of Ovarian Research, 2020

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.

Nurmi A et al.

International Journal of Cancer, 2019

BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.

Suszynska M et al.

Cancers, 2019

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.

Konstanta I et al.

Journal of Human Genetics, 2018

CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.

Hallamies S et al.

Bmc Cancer, 2017

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

Breast cancer in a RAD51D mutation carrier: case report and review of the literature.

Baker JL et al.

Clinical Breast Cancer, 2015

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

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.

Pelttari LM et al.

Journal of Medical Genetics, 2012

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.

Özdemir Z et al.

Mutation Research, 0

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