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Colon cancer genetics
Author(s) -
Lynch Henry T.,
Watson Patrice,
Smyrk Thomas C.,
Lanspa Stephen J.,
Boman Bruce M.,
Boland C. Richard,
Lynch Jane F.,
Cavalieri R. Jennifer,
Lepperf Mark,
White Ray,
Sidransky David,
Vogelstein Bert
Publication year - 1992
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/1097-0142(19920901)70:3+<1300::aid-cncr2820701517>3.0.co;2-o
Subject(s) - medicine , colorectal cancer , family history , cancer , lynch syndrome , natural history , familial adenomatous polyposis , dna mismatch repair
The terms “hereditary,” “sporadic,” and “familial” colorectal cancer (CRC) suggest a knowledge of causation; however, current understanding of CRC does not permit categorization of differing CRC risks in accord with their cause per se. Despite these serious shortcomings, these terms are defined operationally on the basis of a family history of cancer, and when available, additional phenotypic information. The sporadic type occurs in the absence of a family history of CRC in a first‐degree relative. The familial type occurs when at least one first‐degree relative has CRC. Both these categories require the exclusion of hereditary CRC. In the case of hereditary CRC, this type is defined as a family history of CRC occurring in a pattern that indicates autosomal‐dominant inheritance, which also may involve certain phenotypic signs (depending on the specific disorder, i.e., florid adenoma‐tous polyps, benign and malignant extracolonic lesions, cancer of unusually early onset, and multiple primary cancer, particularly synchronous and metachronous CRC). Although this operational classification does not produce etiologically homogeneous groups, it is believed to have pragmatic utility with respect to planning targeted surveillance and management strategies. Because of the distinctive natural history of CRC in hereditary syndromes, it is of paramount clinical importance to identify hereditary CRC when it does occur. Even in patients with no evidence of hereditary CRC syndrome, their family history may be second only to age in determining the best CRC screening program for those who are asymptomatic. In an attempt to provide a perspective on the clinical evaluation of CRC risk, research was reviewed on pathologic features and biomarkers that may be related to CRC causes, especially the genetic basis of CRC susceptibility. The long‐term objective of studies on the genetic epidemiology of CRC is primary and secondary prevention through development of targeted management and surveillance recommendations (based on an understanding of CRC causation) that is relevant to hereditary, familial, and sporadic CRC.