{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T08:59:27Z","timestamp":1769072367035,"version":"3.49.0"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,12,4]],"date-time":"2003-12-04T00:00:00Z","timestamp":1070496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Because previous studies have shown that loss of heterozygosity (LOH) is common on chromosome arm 9p in esophageal squamous cell carcinoma (ESCC) and that genetic alterations in <jats:italic>CDKN2A<\/jats:italic> and <jats:italic>CDKN2B<\/jats:italic> on 9p are also common, we sought to determine whether LOH and these genetic alterations are related. We performed LOH studies on chromosome bands 9p21\u2013p22 and searched for genetic alterations of <jats:italic>CDKN2A<\/jats:italic> and <jats:italic>CDKN2B<\/jats:italic> in 56 ESCCs from a high\u2010risk Chinese population. Seventy\u2010three percent of patients were found to have LOH at one or more loci on chromosome bands 9p21\u2013p22, and LOH occurred more frequently in patients with a family history of upper gastrointestinal cancer than in those with a negative family history (<jats:italic>P<\/jats:italic> = 0.01, global permutation test). <jats:italic>CDKN2A<\/jats:italic> mutations (point mutations, deletions, insertions) were observed in 25% (14 of 56) of cases, and the LOH pattern was significantly different for individuals with and without a <jats:italic>CDKN2A<\/jats:italic> mutation (<jats:italic>P<\/jats:italic> = 0.01, global test). Three new single nucleotide polymorphisms (SNPs) and 2 previously reported SNPs were identified in this group of patients. Intragenic allelic loss at polymorphic sites in <jats:italic>CDKN2A<\/jats:italic> was detected in 32% (18 of 56) of patients. Seven of the 56 (13%) cases exhibited what is considered classic evidence (<jats:italic>n<\/jats:italic> = 4) or showed potential evidence (<jats:italic>n<\/jats:italic> = 3) of biallelic inactivation. Only one alteration was observed in <jats:italic>CDKN2B<\/jats:italic>, G171A in the 5\u2032 untranslated region. Both mutation and intragenic allelic loss in <jats:italic>CDKN2A<\/jats:italic> appear to play a role in the development of ESCC. \u00a92003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.10315","type":"journal-article","created":{"date-parts":[[2004,1,15]],"date-time":"2004-01-15T10:01:18Z","timestamp":1074160878000},"page":"205-216","source":"Crossref","is-referenced-by-count":24,"title":["High frequency of <i>CDKN2A<\/i> alterations in esophageal squamous cell carcinoma from a high\u2010risk Chinese population"],"prefix":"10.1002","volume":"39","author":[{"given":"Nan","family":"Hu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoyu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael R.","family":"Emmert\u2010Buck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark 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