{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:04Z","timestamp":1761717904908,"version":"build-2065373602"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,6,13]],"date-time":"2003-06-13T00:00:00Z","timestamp":1055462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Previous studies suggest that the familial atypical multiple\u2010mole melanoma (FAMMM) syndrome may predispose affected families to nonmelanoma carcinomas, including adenocarcinoma of the pancreas. It has been found that many of these families harbor mutations in the <jats:italic>CDKN2A<\/jats:italic> gene on chromosome 9p21. The phenotypic expression of <jats:italic>CDKN2A<\/jats:italic> mutations in these families has not been characterized fully.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>The authors studied eight families that appeared to inherit multiple nevi, cutaneous melanomas, and pancreatic carcinomas in association with a <jats:italic>CDKN2A<\/jats:italic> germline mutation. The expression of disease within these families was examined, and segregation ratios were estimated to assess the patterns of inheritance according to various definitions of phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Either multiple nevi or pancreatic carcinoma was diagnosed in 53% of first\u2010degree relatives of the probands. The offspring of parents affected with multiple nevi, melanoma, or pancreatic carcinoma were significantly more likely to be affected themselves compared with the offspring of unaffected parents (48.9% vs. 16.7%; <jats:italic>P<\/jats:italic> = 0.004).<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>The current results provide additional evidence that multiple nevi, melanoma, or pancreatic carcinoma may be inherited as autosomal\u2010dominant traits in families known to harbor <jats:italic>CDKN2A<\/jats:italic> mutations. Other malignancies may be a part of the phenotype in these families, although this hypothesis requires additional study. Cancer 2003;98:798\u2013804. \u00a9 2003 American Cancer Society.<\/jats:p><jats:p>DOI 10.1002\/cncr.11562<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.11562","type":"journal-article","created":{"date-parts":[[2003,8,5]],"date-time":"2003-08-05T11:47:11Z","timestamp":1060084031000},"page":"798-804","source":"Crossref","is-referenced-by-count":50,"title":["Characterization of the neoplastic phenotype in the familial atypical multiple\u2010mole melanoma\u2013pancreatic carcinoma syndrome"],"prefix":"10.1002","volume":"98","author":[{"given":"Stephen J.","family":"Rulyak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa A.","family":"Brentnall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry T.","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa A.","family":"Austin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,13]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.3322\/canjclin.52.1.23"},{"key":"e_1_2_5_3_2","first-page":"251","article-title":"Familial pancreatic cancer: a review","volume":"23","author":"Lynch HT","year":"1996","journal-title":"Semin Oncol."},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1159\/000055851"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1985.187"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-17"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198706113162404"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.34.10.1394"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.5.342"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510123331504"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0215(20000915)87:6<809::AID-IJC8>3.0.CO;2-U"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.15.1260"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/89.10.676"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-200212000-00005"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/89.6.442"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199502233320803"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1086\/339692"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.12.1006"},{"key":"e_1_2_5_19_2","first-page":"17","article-title":"Hereditary and malignant melanoma: implications for early cancer detection","volume":"99","author":"Lynch HT","year":"1968","journal-title":"Can Med Assoc J."},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.10159"},{"year":"1993","series-title":"Fundamentals of genetic epidemiology. 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