{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:27:13Z","timestamp":1762003633000},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,3,26]],"date-time":"2003-03-26T00:00:00Z","timestamp":1048636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The recognized urologic tumor spectrum in hereditary non\u2010polyposis colon cancer includes ureteral and renal pelvis malignancies. Here, we report a family in which the proband, who had three metachronous adenocarcinomas of the colon and rectum (at ages 54, 57, and 60), presented with an adenocarcinoma of the prostate at age 61. Immunohistochemical (IHC) staining of colonic, rectal, and prostatic tumor tissues demonstrated lack of expression of both MSH2 and MSH6. Accordingly, microsatellite instability (MSI) was found in the rectal, colonic, and prostatic tumors. The kindred complies with the Amsterdam criteria for HNPCC, as five members over three generations had colorectal cancer. Molecular investigations were initiated when the proband's son presented with an adenocarcinoma of the colon at age 35. Southern blotting analysis of genomic DNA led to identification of a novel genomic deletion encompassing exon 5 of the <jats:italic>MSH2<\/jats:italic> gene. Although prostate cancer has occasionally been described in HNPCC families, to the best of our knowledge, this is the first report where the MSI and IHC analysis of the prostatic adenomcarcinoma clearly link its aetiology to the germline mismatch repair mutation. Hence, prostate cancer should be included in the HNPCC tumor spectrum. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20106","type":"journal-article","created":{"date-parts":[[2003,8,5]],"date-time":"2003-08-05T15:49:12Z","timestamp":1060098552000},"page":"159-162","source":"Crossref","is-referenced-by-count":53,"title":["Prostate cancer is part of the hereditary non\u2010polyposis colorectal cancer (HNPCC) tumor spectrum"],"prefix":"10.1002","volume":"121A","author":[{"given":"Claudio","family":"Soravia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heleen","family":"van der Klift","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Anne","family":"Br\u00fcndler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Louis","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juul","family":"Wijnen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Hutter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riccardo","family":"Fodde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9lia","family":"Delozier\u2010Blanchet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199805213382101"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-410x.2001.00104.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050931"},{"key":"e_1_2_5_6_1","first-page":"5248","article-title":"A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer","volume":"58","author":"Boland R","year":"1998","journal-title":"Cancer Res"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.3322\/canjclin.50.1.7"},{"key":"e_1_2_5_8_1","first-page":"159","article-title":"Microsatellite instability in Muir\u2013Torre syndrome","volume":"97","author":"Honchel R","year":"1994","journal-title":"Cancer Res"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)67115-7"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-199910000-00010"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/84739"},{"key":"e_1_2_5_12_1","first-page":"4810","article-title":"A genetic epidemiological study of hereditary prostate cancer (HPC) in Finland: Frequent HPCX linkage in families with late\u2010onset disease","volume":"6","author":"Schleutker J","year":"2000","journal-title":"Clin Cancer Res"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/316942"},{"key":"e_1_2_5_14_1","first-page":"1830","article-title":"Urinary tract cancer and hereditary nonpolyposis colorectal cancer: Risks and screening options","volume":"164","author":"Sijmons RH","year":"1998","journal-title":"J Urol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(99)70510-X"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/3795"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:54:46Z","timestamp":1697648086000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,26]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,8,30]]}},"alternative-id":["10.1002\/ajmg.a.20106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20106","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,26]]}}}