Associated Papers
High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response.
Darrah KE et al.
Biorxiv : the Preprint Server for Biology, 2026
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.
Arranz-Ledo M et al.
Genes, 2025
Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.
Ul Haq S et al.
Jto Clinical and Research Reports, 2024
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Chrysafi P et al.
Cancers, 2023
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M et al.
Breast Cancer Research : Bcr, 2023
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
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
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Adam F et al.
Bmc Medical Genomics, 2023
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can!
Magliacane G et al.
Cancers, 2022
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
A decade of RAD51C and RAD51D germline variants in cancer.
Boni J et al.
Human Mutation, 2022
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.
Yoshida R et al.
Cancer Science, 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
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
Gutiérrez-Enríquez S et al.
International Journal of Cancer, 2014
Loss of function germline mutations in RAD51D in women with ovarian carcinoma.
Wickramanayake A et al.
Gynecologic Oncology, 2012