Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.

@article{Auroy2001SporadicMP,
  title={Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.},
  author={Sylvie Auroy and Marie Avril and Agn{\'e}s Chompret and Danielle T Pham and Alisa M Goldstein and Giovanna Bianchi-Scarr{\'a} and Thierry 11 Fr{\'e}bourg and Philippe Joly and Alain Spatz and Carole Rubino and Florence Demenais and B Bressac-de Paillerets},
  journal={Genes, chromosomes & cancer},
  year={2001},
  volume={32 3},
  pages={195-202}
}
Multiple primary cancers are one of the hallmarks of inherited predisposition. Outside the familial context, multiple primary tumors could be related either to germline de novo mutations or to low-penetrance mutations, in predisposing genes. We selected 100 patients who displayed multiple primary melanoma (MPM) without any known melanoma cases recorded within their families and looked for germline mutations in the two melanoma-predisposing genes identified to date, CDKN2A and CDK4 exon 2. Nine… CONTINUE READING
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