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Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum

van der Klift, Heleen
Wijnen, Juul
Fodde, Riccardo
Delozier-Blanchet, Célia
Published in American journal of medical genetics. Part A. 2003, vol. 121A, no. 2, p. 159-62
Abstract The recognized urologic tumor spectrum in hereditary non-polyposis 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 MSH2 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.
Keywords Base Pair MismatchColorectal Neoplasms, Hereditary Nonpolyposis/diagnosisDNA Mutational AnalysisGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedPedigreeProstatic Neoplasms/complications/diagnosisProteins/genetics
PMID: 12910497
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Research groups Chirurgie viscérale (104)
Chirurgie viscérale (HUG)
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SORAVIA, Claudio et al. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. In: American journal of medical genetics. Part A, 2003, vol. 121A, n° 2, p. 159-62. doi: 10.1002/ajmg.a.20106 https://archive-ouverte.unige.ch/unige:45481

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Deposited on : 2015-01-19

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