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Titolo:
Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer - Part II: Hereditary nonpolyposis colorectalcarcinoma as a model
Autore:
Lynch, HT; Watson, P; Shaw, TG; Lynch, JF; Harty, AE; Franklin, BA; Kapler, CR; Tinley, ST; Liu, B; Lerman, C;
Indirizzi:
Creighton Univ, Sch Med, Dept Prevent Med, Omaha, NE 68178 USA Creighton Univ Omaha NE USA 68178 , Dept Prevent Med, Omaha, NE 68178 USA Univ Pittsburgh, Med Ctr, Dept Mol Genet & Biochem, Pittsburgh, PA USA Univ Pittsburgh Pittsburgh PA USA ol Genet & Biochem, Pittsburgh, PA USA Georgetown Univ, Sch Med, Lombardi Canc Ctr, Washington, DC USA GeorgetownUniv Washington DC USA Lombardi Canc Ctr, Washington, DC USA
Titolo Testata:
CANCER
fascicolo: 8, volume: 86, anno: 1999, supplemento:, S
pagine: 1637 - 1643
SICI:
0008-543X(19991015)86:8<1637:CIOMGD>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
COLON-CANCER; GERMLINE MUTATION; COLECTOMY; NEOPLASIA; CARRIERS; HMSH2;
Keywords:
hereditary cancer; cancer genetics; hereditary nonpolyposis colorectal carcinoma; genetic counseling; genetic testing; colorectal carcinoma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Lynch, HT Creighton Univ, Sch Med, Dept Prevent Med, 2500 Calif Plaza, Omaha, NE 68178 USA Creighton Univ 2500 Calif Plaza Omaha NE USA 68178 NE 68178 USA
Citazione:
H.T. Lynch et al., "Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer - Part II: Hereditary nonpolyposis colorectalcarcinoma as a model", CANCER, 86(8), 1999, pp. 1637-1643

Abstract

Hereditary nonpolyposis colorectal carcinoma (HNPCC) is the most common hereditary form of colorectal carcinoma (CRC) and may account for 5-10% of the total CRC burden. The discovery of DNA mismatch repair (MMR) genes, inclusive of hMSH2, hMLH1, hPMS2, and hMSH6, has enabled the identification of who has and who does not have inordinately increased susceptibility to CRC as well as a litany of extracolonic cancers. Mutation testing has focused onhMSH2 and hMLH1, the most common mutations in HNPCC. The protocol for DNA testing and DNA-based genetic counseling is described in Part I of this study. One hundred ninety-nine bloodline relatives were tested and counseled from five hMLH1 and two hMSH2 families. Their major reason for seeking genetic counseling and DNA testing was to inform their children and other loved ones of their mutation status. Those who sought counseling overestimated their risk for inheriting the mutation and showed a high rate of interest in prophylactic surgery, and many were greatly concerned about insurance discrimination. Knowledge about HNPCC, its molecular genetic diagnosis, surveillance and management opportunities, and genetic counseling implications are still emerging, all in the face of a greater need for physician education regarding all facets of hereditary cancer. (C) 1999 American Cancer Society.

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Documento generato il 29/03/20 alle ore 10:06:35