Associated Papers
Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.
Yamaguchi T et al.
Japanese Journal of Clinical Oncology, 2025
41342546 (PubMed )
Supplement: table_s1_hyaf181.xlsx › Supplemental_Table_1
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways.
Pires C et al.
International Journal of Cancer, 2025
Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel RHBDF2 variant.
Mokoena T et al.
Clinical Genetics, 2018
Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.
Saarinen S et al.
Familial Cancer, 2012
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Blaydon DC et al.
American Journal of Human Genetics, 2012
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