Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management
- 13 November 2007
- journal article
- review article
- Published by Springer Science and Business Media LLC in Familial Cancer
- Vol. 7 (1), 27-39
- https://doi.org/10.1007/s10689-007-9165-5
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.Keywords
This publication has 71 references indexed in Scilit:
- The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch Syndrome: from bench to bedsideFamilial Cancer, 2007
- Hereditary gynecologic cancers: differential diagnosis, surveillance, management and surgical prophylaxisFamilial Cancer, 2007
- Prediction of Germline Mutations and Cancer Risk in the Lynch SyndromeJAMA, 2006
- Gynecologic Cancer as a “Sentinel Cancer” for Women With Hereditary Nonpolyposis Colorectal Cancer SyndromeObstetrics & Gynecology, 2005
- An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancerGenetics in Medicine, 2003
- Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriersHuman Genetics, 2002
- Immunolocalization of beta catenin in intestinal polyps of Peutz- Jeghers and juvenile polyposis syndromesJournal of Clinical Pathology, 1999
- Peutz-Jeghers syndrome is caused by mutations in a novel serine threoninekinaseNature Genetics, 1998
- The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Diseases of the Colon & Rectum, 1991
- Increased Risk of Cancer in the Peutz–Jeghers SyndromeNew England Journal of Medicine, 1987