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Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management.
Fam Cancer 2008; 7(1):27-39FC

Abstract

Hereditary forms of colorectal cancer, as is the case with virtually all forms of hereditary cancer, show extensive phenotypic and genotypic heterogeneity, a phenomenon discussed throughout this special issue of Familial Cancer. Clearly, the family physician, oncology specialist, genetic counselor, and cancer geneticist must know fully the complexity of hereditary cancer syndromes, their differential diagnosis, in order to establish a diagnosis, direct highly-targeted surveillance and management, and then be able to communicate effectively with the molecular geneticist so that an at-risk patient's DNA can be tested in accord with the syndrome of concern. Thus, a family with features of the Lynch syndrome will merit microsatellite instability testing, consideration for immunohistochemistry evaluation, and mismatch repair gene testing, while, in contrast, a patient with FAP will require APC testing. However, other germline mutations, yet to be identified, may be important should testing for these mutations prove to be absent and, therein, unrewarding to the patient. Nevertheless, our position is that if the patient's family history is consistent with one of these syndromes, but a mutation is not found in the family, we still recommend the same surveillance and management strategies for patients from families with an established cancer-causing germline mutation. Our purpose in this paper is to provide a concise coverage of the major hereditary colorectal cancer syndromes, to discuss genetic counseling, molecular genetic evaluation, highly targeted surveillance and management, so that cancer control can be maximized for these high hereditary cancer risk patients.

Authors+Show Affiliations

Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska 68178, USA. htlynch@creighton.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

17999161

Citation

Lynch, Henry T., et al. "Hereditary Colorectal Cancer Syndromes: Molecular Genetics, Genetic Counseling, Diagnosis and Management." Familial Cancer, vol. 7, no. 1, 2008, pp. 27-39.
Lynch HT, Lynch JF, Lynch PM, et al. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer. 2008;7(1):27-39.
Lynch, H. T., Lynch, J. F., Lynch, P. M., & Attard, T. (2008). Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Familial Cancer, 7(1), pp. 27-39.
Lynch HT, et al. Hereditary Colorectal Cancer Syndromes: Molecular Genetics, Genetic Counseling, Diagnosis and Management. Fam Cancer. 2008;7(1):27-39. PubMed PMID: 17999161.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. AU - Lynch,Henry T, AU - Lynch,Jane F, AU - Lynch,Patrick M, AU - Attard,Thomas, Y1 - 2007/11/13/ PY - 2007/07/10/received PY - 2007/10/04/accepted PY - 2007/11/14/pubmed PY - 2008/7/9/medline PY - 2007/11/14/entrez SP - 27 EP - 39 JF - Familial cancer JO - Fam. Cancer VL - 7 IS - 1 N2 - Hereditary forms of colorectal cancer, as is the case with virtually all forms of hereditary cancer, show extensive phenotypic and genotypic heterogeneity, a phenomenon discussed throughout this special issue of Familial Cancer. Clearly, the family physician, oncology specialist, genetic counselor, and cancer geneticist must know fully the complexity of hereditary cancer syndromes, their differential diagnosis, in order to establish a diagnosis, direct highly-targeted surveillance and management, and then be able to communicate effectively with the molecular geneticist so that an at-risk patient's DNA can be tested in accord with the syndrome of concern. Thus, a family with features of the Lynch syndrome will merit microsatellite instability testing, consideration for immunohistochemistry evaluation, and mismatch repair gene testing, while, in contrast, a patient with FAP will require APC testing. However, other germline mutations, yet to be identified, may be important should testing for these mutations prove to be absent and, therein, unrewarding to the patient. Nevertheless, our position is that if the patient's family history is consistent with one of these syndromes, but a mutation is not found in the family, we still recommend the same surveillance and management strategies for patients from families with an established cancer-causing germline mutation. Our purpose in this paper is to provide a concise coverage of the major hereditary colorectal cancer syndromes, to discuss genetic counseling, molecular genetic evaluation, highly targeted surveillance and management, so that cancer control can be maximized for these high hereditary cancer risk patients. SN - 1389-9600 UR - https://www.unboundmedicine.com/medline/citation/17999161/Hereditary_colorectal_cancer_syndromes:_molecular_genetics_genetic_counseling_diagnosis_and_management_ L2 - https://doi.org/10.1007/s10689-007-9165-5 DB - PRIME DP - Unbound Medicine ER -