POLE mutations in families predisposed to cutaneous melanoma
pmid: 26251183
POLE mutations in families predisposed to cutaneous melanoma
Germline mutations in the exonuclease domain of POLE have been shown to predispose to colorectal cancers and adenomas. POLE is an enzyme involved in DNA repair and chromosomal DNA replication. In order to assess whether such mutations might also predispose to cutaneous melanoma, we interrogated whole-genome and exome data from probands of 34 melanoma families lacking pathogenic mutations in known high penetrance melanoma susceptibility genes: CDKN2A, CDK4, BAP1, TERT, POT1, ACD and TERF2IP. We found a novel germline mutation, POLE p.(Trp347Cys), in a 7-case cutaneous melanoma family. Functional assays in S. pombe showed that this mutation led to an increased DNA mutation rate comparable to that seen with a Pol ε mutant with no exonuclease activity. We then performed targeted sequencing of POLE in 1243 cutaneous melanoma cases and found that a further ten probands had novel or rare variants in the exonuclease domain of POLE. Although this frequency is not significantly higher than that in unselected Caucasian controls, we observed multiple cancer types in the melanoma families, suggesting that some germline POLE mutations may predispose to a broad spectrum of cancers, including melanoma. In addition, we found the first mutation outside the exonuclease domain, p.(Gln520Arg), in a family with an extensive history of colorectal cancer.
- University of Oxford United Kingdom
- QIMR Berghofer Medical Research Institute Australia
- University of Graz Austria
- University of Queensland Australia
- Medical University of Graz Austria
Adult, Male, 2716 Genetics (clinical), 570, Skin Neoplasms, Adolescent, 1311 Genetics, Germline mutation, Biomarkers, Tumor, Humans, 1306 Cancer Research, Genetic Predisposition to Disease, Poly-ADP-Ribose Binding Proteins, Melanoma, Germ-Line Mutation, Aged, Neoplasm Staging, Aged, 80 and over, High-Throughput Nucleotide Sequencing, DNA Polymerase II, Middle Aged, Prognosis, Pedigree, POLE, 2730 Oncology, Female, Cutaneous melanoma, Follow-Up Studies
Adult, Male, 2716 Genetics (clinical), 570, Skin Neoplasms, Adolescent, 1311 Genetics, Germline mutation, Biomarkers, Tumor, Humans, 1306 Cancer Research, Genetic Predisposition to Disease, Poly-ADP-Ribose Binding Proteins, Melanoma, Germ-Line Mutation, Aged, Neoplasm Staging, Aged, 80 and over, High-Throughput Nucleotide Sequencing, DNA Polymerase II, Middle Aged, Prognosis, Pedigree, POLE, 2730 Oncology, Female, Cutaneous melanoma, Follow-Up Studies
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