Genetic testing for polyposis: practical and ethical aspects
- The changing face of familial colorectal cancer. Banerjea, Ayan; Clark, Sue; Dorudi, Sina // BMJ: British Medical Journal (International Edition);1/1/2005, Vol. 330 Issue 7481, p2
Discusses the need for young patients with colorectal cancer to be assessed for genetic predispositions to the disease. Details of how hereditary colorectal cancers are attributable to two recognised syndromes, familial adenomatous polyposis and hereditary non-polyposis colorectal cancer...
- Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Bunyan, D. J.; Eccles, D. M.; Sillibourne, J.; Wilkins, E.; Thomas, N. Simon; Shea-Simonds, J.; Duncan, P. J.; Curtis, C. E.; Robinson, D. O.; Harvey, J. F.; Cross, N. C. P // British Journal of Cancer;9/13/2004, Vol. 91 Issue 6, p1155
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by standard diagnostic analysis. To determine the incidence of copy number variants in cancer...
- Revised Bethesda Guidelines Identify Patients at Risk for HNPCC. Zielinski, Sarah L.; Travis, Kate // JNCI: Journal of the National Cancer Institute;5/18/2005, Vol. 97 Issue 10, p712
Reports on a study published in the April 27, 2005, issue of the "Journal of the American Medical Association" indicating that the revised Bethesda Guidelines for selecting individuals for genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) are effective for identifying...
- Genetic testing for young-onset colorectal cancer: case report and evidence-based clinical guidelines. Yaolin Zhou; Boardman, Lisa A.; Miller, Robert C. // Radiology & Oncology;2010, Vol. 44 Issue 1, p57
Background. Young-onset colorectal cancer is clinicopathologically different from older-onset colorectal cancer and tends to occur in patients with hereditary germline conditions such as Lynch syndrome and familial adenomatous polyposis. Case report. We describe the case of a 44-year-old man...
- Genetic testing and surgical decision making in hereditary colorectal cancer. Soravia, C.; Berk, T.; Cohen, Z. // International Journal of Colorectal Disease;Jan2000, Vol. 15 Issue 1, p21
Hereditary colorectal cancer results from specific genetic alterations. The causative genes for familial adenomatous polyposis, juvenile polyposis, Peutz-Jeghers syndrome, and hereditary nonpolyposis colorectal cancer have been cloned and characterized within the past decade. Genetic testing has...
- blue diaper syndrome. // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p292
An encyclopedia entry for "blue diaper syndrome," which refers to a rare autosomal recessive disorder, is presented.
- 'Genetic Exceptionalism' in Medicine: Clarifying the Differences between Genetic and Nongenetic Tests. Green, Michael J.; Botkin, Jeffrey R. // Annals of Internal Medicine;4/1/2003, Vol. 138 Issue 7, p571
Examines arguments related to predictive genetic testing, the testing of asymptomatic persons for future health problems. Common factors among genetic and nongenetic predictive tests; Claims regarding the need for special treatment of genetic predictive test; Suggestions to physicians.
- Living It Down. Schmitt, Adam // Teen Ink;Jan2009, Vol. 20 Issue 5, p28
The author describes how difficult life is for people inflicted with Down syndrome.
- A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23—24.2. Hmani, Mounira; Ghorbel, Abdelmonem; Boulila-Elgaied, Amel; Zina, Zeineb Ben; Kammoun, Wafa; Drira, Mohamed; Chaabouni, Mohamed; Petit, Christine; Ayadi, Hammadi // European Journal of Human Genetics;Apr99, Vol. 7 Issue 3, p363
Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade of life, with congenital moderate to severe non-progressive hearing loss. This double sensory impairment is not accompanied by vestibular dysfunction. To date, only...