The role of clinical genetics in management

Cole, T R P; Sleightholme, H V
October 2000
BMJ: British Medical Journal (International Edition);10/14/2000, Vol. 321 Issue 7266, p943
Academic Journal
Discusses the role of genetic factors in the etiology of colorectal cancer. Clinical features and screening guidelines for dominant colon cancer syndromes; Genetic characteristics of familial adenomatous polyposis, hereditary non-polyposis colon cancer, and other disorders; Criteria for the diagnosis of hereditary cancer; Outlook for further study.


Related Articles

  • Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. Tavtigian, S. V.; Deffenbaugh, A. M.; Yin, L.; Judkins, I.; Scholl, T.; Samollow, P. B.; de Silva, D.; Zharkikh, A.; Thomas, A. // Journal of Medical Genetics;Apr2006, Vol. 43 Issue 4, p295 

    Background: Genetic testing for hereditary cancer syndromes contributes to the medical management of patients who may be at increased risk of one or more cancers. BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer is one such widely used test. However, clinical testing methods with...

  • Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. Di Fiore, F.; Charbonnier, F.; Martin, C.; Frerot, S.; Olschwang, S.; Wang, Q.; Boisson, C.; Buisine, M.-P.; Nilbert, M.; Lindblom, A.; Frebourg, T. // Journal of Medical Genetics;Jan2004, Vol. 41 Issue 1, p18 

    Points out that in hereditary non-polyposis colorectal cancer (HNPCC), point mutations of MSH2, MLH1 or MSH6 are detected in approximately half of the families involved, which therefore fulfill the Amsterdam criteria (AMS). Analysis of MSH2 in 120 AMS+ and 212 AMS- HNPCC families without MSH2...

  • Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners, Evaluated at Multiple Performance Levels. Houwink, Elisa J. F.; Muijtjens, Arno M. M.; van Teeffelen, Sarah R.; Henneman, Lidewij; Rethans, Jan Joost; Jacobi, Florijn; van der Jagt, Liesbeth; Stirbu, Irina; van Luijk, Scheltus J.; Stumpel, Connie T. R. M.; Meijers-Heijboer, Hanne E.; van der Vleuten, Cees; Cornel, Martina C.; Dinant, Geert Jan // PLoS ONE;Apr2015, Vol. 10 Issue 4, p1 

    General practitioners (GPs) are increasingly called upon to identify patients at risk for hereditary cancers, and their genetic competencies need to be enhanced. This article gives an overview of a research project on how to build effective educational modules on genetics, assessed by randomized...

  • Resources for expanding services for hereditary cancer risk assessment. Babb, Sheri A.; Leitner, Ofri // Hem/Onc Today;8/25/2011, Vol. 12 Issue 16, p21 

    The authors discuss the role of cancer genetic counselors in helping oncology practices expand or incorporate services for risk assessment of hereditary cancer, including helping people understand and adapt to the familial, medical and psychological implications of genetic to diseases.

  • Clinicians are beginning to use genetic information in patient management. Bechtel, Bryan // Primary Care Optometry News;Jun2009, Vol. 14 Issue 6, p16 

    This article deals with the growing use of genetic information in clinical practice in testing and counseling.

  • CHEK2 variants associate with hereditary prostate cancer. Seppälä, E. H.; Ikonen, T.; Mononen, N.; Autio, V.; Rökman, A.; Matikainen, M. P.; Tammela, T. L. J.; Schleutker, J. // British Journal of Cancer;11/17/2003, Vol. 89 Issue 10, p1966 

    Recently, variants in CHEK2 gene were shown to associate with sporadic prostate cancer in the USA. In the present study from Finland, we found that the frequency of 1100delC, a truncating variant that abrogates the kinase activity, was significantly elevated among 120 patients with hereditary...

  • New Gene Finding May Yield Clues to Prostate Cancer Complexity. Benowitz, Steve // JNCI: Journal of the National Cancer Institute;03/07/2001, Vol. 93 Issue 5, p344 

    Focuses on genetic studies regarding the complexities surrounding prostate cancer. Evidence of a familial prostate cancer susceptibility gene; Data indicating that mutations to the HPC2 gene on chromosome 17 may be the key to the development of hereditary prostate cancer; Presence of suspect...

  • Oncology Nursing Society 29th Annual Congress Anaheim, CA April 29-May 2, 2004. Fisher, Carol; Watters, Carol // Oncology Nursing Forum;Jan2005, Vol. 32 Issue 1, p21 

    Reports on the provision of hereditary cancer genetics consultation services by advanced practice nurses from a medical center in Richmond, Virginia. Basis of initiating the consultation service; Training received by nurses who provided the service; Visit processes of the service.

  • Obtaining Family Histories From Patients With Cancer. Ashcraft, Pamela F.; Coleman, Elizabeth Ann; Lange, Ulrika; Enderlin, Carol; Stewart, Carol Beth // Clinical Journal of Oncology Nursing;Feb2007, Vol. 11 Issue 1, p119 

    Information obtained from family history data can provide valuable insight into the biologic and environmental etiologies of an individual's personal and family history of disease. The purpose of this article is to provide a brief introduction to cancer genetics and discuss ways to obtain...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics