Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases
Autore:
Peel, DJ; Ziogas, A; Fox, EA; Gildea, M; Laham, B; Clements, E; Kolodner, RD; Anton-Culver, H;
Indirizzi:
Univ Calif Irvine, Dept Med, Div Epidemiol, Irvine, CA 92697 USA Univ Calif Irvine Irvine CA USA 92697 Div Epidemiol, Irvine, CA 92697 USA Univ Calif San Diego, Sch Med, Ludwig Inst Canc Res, San Diego, CA 92103 USA Univ Calif San Diego San Diego CA USA 92103 Res, San Diego, CA 92103 USA Dana Farber Canc Inst, Boston, MA 02115 USA Dana Farber Canc Inst Boston MA USA 02115 Canc Inst, Boston, MA 02115 USA
Titolo Testata:
JOURNAL OF THE NATIONAL CANCER INSTITUTE
fascicolo: 18, volume: 92, anno: 2000,
pagine: 1517 - 1522
Fonte:
ISI
Lingua:
ENG
Soggetto:
REPAIR-GENE-MUTATIONS; MUIR-TORRE SYNDROME; COLON-CANCER; MISMATCH-REPAIR; MICROSATELLITE INSTABILITY; ADENOMATOUS POLYPOSIS; 3-YEAR EXPERIENCE; MLH1 MUTATIONS; LYNCH SYNDROME; BREAST-CANCER;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
51
Recensione:
Indirizzi per estratti:
Indirizzo: Anton-Culver, H Univ Calif Irvine, Dept Med, Div Epidemiol, 224 Irvine Hall, Irvine, CA 92697 USA Univ Calif Irvine 224 Irvine Hall Irvine CA USA 92697 USA
Citazione:
D.J. Peel et al., "Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases", J NAT CANC, 92(18), 2000, pp. 1517-1522

Abstract

Background: The incidence of hereditary nonpolyposis colon cancer (HNPCC) in the general population is not well defined because of the lack of large population-based studies. We characterized the incidence of HNPCC in a large, population-based cohort of colorectal cancer probands and analyzed the location of colorectal tumors. Methods: Of the participating 1134 probands from three counties in Southern California, 907 had a negative family history of colorectal cancer and 227 had a positive family history of colorectal cancer. In addition, 11 referral case subjects with HNPCC were used to study mutation frequencies in two mismatch repair genes (MSH2 and MLH1) and microsatellite instability. All statistical tests were two-sided. Results: Among the probands diagnosed in Orange County during 1994 (population-based sample, all ages), five were consistent with the Amsterdam criteria for HNPCC(0.9%; 95% confidence interval [CI] = 0.3%-2.1%). Among probands diagnosedat less than 65 years of age-from the wider three-county area and a longertime span-16 (2.1%; 95% CI = 1.2%-3.4%) had a clinical history consistent with the Amsterdam criteria for HNPCC, Five (approximately 45%) of 11 of the referral HNPCC case subjects had a mutation in MSH2 or MLH1 and also showed microsatellite instability. The family members of case subjects with mutations tended to show an earlier age at diagnosis of HNPCC and more multiple primary cancers than those of case subjects without detectable mutations. Many of the known characteristics of HNPCC, including the presence of ureteral and endometrial cancers, were seen in both sets of families. The previously reported proximal location of colorectal tumors in HNPCC kindreds wasnot seen in the population-based dataset but was similar to the location reported in the referral cases. Conclusions: On the basis of our data, we believe that the prevalence of HNPCC in the general population is likely to be closer to 1% than to 5%. Furthermore, our study suggests that some previously reported characteristics of HNPCC, such as the proximal location of tumors in the syndrome, may not always hold true in a population-based sample.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 13:08:45