{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T15:49:13Z","timestamp":1774712953581,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,4,9]],"date-time":"2009-04-09T00:00:00Z","timestamp":1239235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Head &amp; Neck"],"published-print":{"date-parts":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Germline mutations at the <jats:italic>INK4a\/p16<\/jats:italic> locus are implicated in several human cancer syndromes, including familial atypical multiple mole melanoma (FAMMM) syndrome, FAMMM\u2010pancreatic cancer (FAMMM\u2010PC) syndrome, and in familial head and neck cancer syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present an individual with a family history of melanoma and pancreatic cancer who had multiple dysplastic nevi, squamous cell carcinoma of the tongue at age 22, multiple melanomas, a second squamous cell cancer of the tongue at age 40, and ultimately a pancreatic cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We demonstrate a germline mutation in <jats:italic>INK4a<\/jats:italic> and loss of heterozygosity at this locus in his HNSCC tissue.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This report suggests that <jats:italic>INK4a<\/jats:italic> germline mutations associated with FAMMM\/FAMMM\u2010PC can also be associated with HNSCC. We conclude that HNSCC in young individuals should prompt clinicians to obtain a family history and consider that the patient may have a germline <jats:italic>p16<\/jats:italic> defect that could predispose them to other cancers, including melanoma and pancreatic cancer. \u00a9 2009 Wiley Periodicals, Inc. Head Neck, 2009<\/jats:p><\/jats:sec>","DOI":"10.1002\/hed.21050","type":"journal-article","created":{"date-parts":[[2009,4,9]],"date-time":"2009-04-09T17:13:48Z","timestamp":1239297228000},"page":"1524-1527","source":"Crossref","is-referenced-by-count":24,"title":["Head and neck squamous cell carcinoma in FAMMM syndrome"],"prefix":"10.1002","volume":"31","author":[{"given":"Vladimir","family":"Vinarsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L.","family":"Fine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adel","family":"Assaad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Qian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A.","family":"Chabot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria H.","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold","family":"Frucht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,4,9]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/88.20.1489"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200209000-00010"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012336"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9247"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.7.3844"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510123331505"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200212000-00002"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.209"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2001.1991"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00008390-200202000-00008"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19971114)73:4<531::AID-IJC13>3.0.CO;2-C"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/345397"}],"container-title":["Head &amp; Neck"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhed.21050","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/hed.21050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T01:04:27Z","timestamp":1700010267000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/hed.21050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,9]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/hed.21050"],"URL":"https:\/\/doi.org\/10.1002\/hed.21050","archive":["Portico"],"relation":{},"ISSN":["1043-3074","1097-0347"],"issn-type":[{"value":"1043-3074","type":"print"},{"value":"1097-0347","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,9]]}}}