Associated Papers
Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.
Torres-Esquius S et al.
Jama Network Open, 2024
38648056 (PubMed )
Supplement: jamanetwopen-e247811-s001.pdf
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_S3_Transcript_annotation.pdf
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_Methods_-_ACMG_AMP_interpretation_20_variants-R2.pdf
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Dawson LM et al.
Molecular Genetics & Genomic Medicine, 2020
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