Who should be sent for genetic testing in hereditary colorectal cancer syndromes?

Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Research Abstract Details 

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Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Abstract Text:

Henry T Lynch,C Richard Boland,Miguel A Rodriguez-Bigas,Christopher Amos,Jane F Lynch,Patrick M Lynch,

Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic.

Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Publishing Authors By Initials

HT Lynch,CR Boland,MA Rodriguez-Bigas,C Amos,JF Lynch,PM Lynch,

For similar neoplasms: neoplastic syndromes, hereditary research abstracts see: neoplasms: neoplastic syndromes, hereditary research

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Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of clinical oncology : official journal of

VOLUME: 25

Page Numbers: 3534-42

Journal Abbreviation: J. Clin. Oncol.

ISSN: 1527-7755

DAY: 10

MONTH: Aug

YEAR: 2007

Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 8309333

Who should be sent for genetic testing in hereditary colorectal cancer syndromes? Keywords Mesh Terms:

KEYWORDS: Neoplastic Syndromes, Hereditary

MESH TERMS: surgery

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Grant and Affiliation Information for Who should be sent for genetic testing in hereditary colorectal cancer syndromes?

AFFILIATION: Department of Preventive Medicine, Creighton University School of Medicine, Omaha, NE 68178, USA. htlynch@creighton.edu

Country: United States

AGENCY: United States NCI

GRANT: R01-CA72851-11

ACRONYM: CA

MEDLINETA: J Clin Oncol

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