Colon cancer genetics

H. T. Lynch, P. Watson, Thomas Christopher Smyrk, S. J. Lanspa, B. M. Boman, C. R. Boland, J. F. Lynch, R. J. Cavalieri, M. Leppert, R. White, D. Sidransky, B. Vogelstein

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

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 adenomatous 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.

Original languageEnglish (US)
Pages (from-to)1300-1312
Number of pages13
JournalCancer
Volume70
Issue number5 SUPPL.
StatePublished - 1992
Externally publishedYes

Fingerprint

Colonic Neoplasms
Colorectal Neoplasms
Causality
Hereditary Neoplastic Syndromes
Adenomatous Polyps
Neoplasms
Molecular Epidemiology
Primary Prevention
Secondary Prevention
Early Detection of Cancer

Keywords

  • biomarkers
  • colon cancer genetics
  • family history
  • heterogeneity

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Lynch, H. T., Watson, P., Smyrk, T. C., Lanspa, S. J., Boman, B. M., Boland, C. R., ... Vogelstein, B. (1992). Colon cancer genetics. Cancer, 70(5 SUPPL.), 1300-1312.

Colon cancer genetics. / Lynch, H. T.; Watson, P.; Smyrk, Thomas Christopher; Lanspa, S. J.; Boman, B. M.; Boland, C. R.; Lynch, J. F.; Cavalieri, R. J.; Leppert, M.; White, R.; Sidransky, D.; Vogelstein, B.

In: Cancer, Vol. 70, No. 5 SUPPL., 1992, p. 1300-1312.

Research output: Contribution to journalArticle

Lynch, HT, Watson, P, Smyrk, TC, Lanspa, SJ, Boman, BM, Boland, CR, Lynch, JF, Cavalieri, RJ, Leppert, M, White, R, Sidransky, D & Vogelstein, B 1992, 'Colon cancer genetics', Cancer, vol. 70, no. 5 SUPPL., pp. 1300-1312.
Lynch HT, Watson P, Smyrk TC, Lanspa SJ, Boman BM, Boland CR et al. Colon cancer genetics. Cancer. 1992;70(5 SUPPL.):1300-1312.
Lynch, H. T. ; Watson, P. ; Smyrk, Thomas Christopher ; Lanspa, S. J. ; Boman, B. M. ; Boland, C. R. ; Lynch, J. F. ; Cavalieri, R. J. ; Leppert, M. ; White, R. ; Sidransky, D. ; Vogelstein, B. / Colon cancer genetics. In: Cancer. 1992 ; Vol. 70, No. 5 SUPPL. pp. 1300-1312.
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abstract = "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 adenomatous 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.",
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