{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:07:19Z","timestamp":1791248839519,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,6,2]],"date-time":"2009-06-02T00:00:00Z","timestamp":1243900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2009,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>CDKN2A<\/jats:italic> is a major susceptibility gene for cutaneous malignant melanoma (CMM), but the variable penetrance and clinical manifestations among mutation carriers suggest the existence of modifier factors. The goal of this study was to identify modifier genes for CMM in CMM\u2010prone families with or without <jats:italic>CDKN2A<\/jats:italic> mutations. We genotyped 537 individuals (107 CMM) from 28 families (19 <jats:italic>CDKN2A<\/jats:italic>+, 9 <jats:italic>CDKN2A<\/jats:italic>\u2212) for 1,536 SNPs in 152 genes involved in DNA repair, apoptosis and immune response pathways. We used conditional logistic regression to account for family ascertainment and differences in disease prevalence among families. Pathway\u2010 and gene\u2010based permutation analyses were used to assess the risk of CMM associated with genes in the 5 pathways (DNA repair, apoptosis, <jats:italic>TNF\/NF\u03baB<\/jats:italic>, TH1:TH2 and other immune regulation). Our analyses identified some candidate genes such as <jats:italic>FAS<\/jats:italic>, <jats:italic>BCL7A<\/jats:italic>, <jats:italic>CASP14<\/jats:italic>, <jats:italic>TRAF6<\/jats:italic>, <jats:italic>WRN<\/jats:italic>, IL9, <jats:italic>IL10RB<\/jats:italic>, <jats:italic>TNFSF8<\/jats:italic>, <jats:italic>TNFRSF9<\/jats:italic> and <jats:italic>JAK3<\/jats:italic> that were associated with CMM risk (<jats:italic>p<\/jats:italic> &lt; 0.01, gene\u2010based test). After correction for multiple comparisons, <jats:italic>IL9<\/jats:italic> remained significant (Bonferroni <jats:italic>p<\/jats:italic> &lt; 0.05). The effects of some genes were stronger in <jats:italic>CDKN2A<\/jats:italic>\u2010positive families (<jats:italic>BCL7A<\/jats:italic> and <jats:italic>IL9<\/jats:italic>), while some were stronger in <jats:italic>CDKN2A<\/jats:italic>\u2010negative families (<jats:italic>BCL2L1<\/jats:italic>). Our findings support the hypothesis that common genetic polymorphisms in DNA repair, apoptosis and immune response pathways may modify the risk of CMM in CMM\u2010prone families with or without <jats:italic>CDKN2A<\/jats:italic> mutations. Published 2009 UICC.<\/jats:p>","DOI":"10.1002\/ijc.24622","type":"journal-article","created":{"date-parts":[[2009,7,5]],"date-time":"2009-07-05T06:24:11Z","timestamp":1246775051000},"page":"2912-2917","source":"Crossref","is-referenced-by-count":39,"title":["Identification of modifier genes for cutaneous malignant melanoma in melanoma\u2010prone families with and without <i>CDKN2A<\/i> mutations"],"prefix":"10.1002","volume":"125","author":[{"given":"Xiaohong Rose","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth 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