1/3. Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.We report a novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. A 46-year-old Japanese man and his mother were diagnosed as having Cowden disease. Their physical examinations revealed multiple facial trichilemmoma, oral mucosal papillomatosis, palmoplantar keratosis, and gastrointestinal polyposis. The single-strand conformation polymorphism (SSCP) analysis showed an abnormal band on exon 7 of their PTEN gene. Direct sequence analysis of exon 7 detected a TAAA insertion to codon 221, producing a stop codon (c.663ins TAAA).- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/3. Hereditary breast cancer considering Cowden syndrome: a case study.Hereditary breast cancer and the BRCA1 and BRCA2 genes have received a great deal of publicity over the past few years. patients and family members frequently ask if they can be tested to see whether they have the "breast cancer gene," assuming that all breast cancers can be linked to one chromosomal site. Although the BRCA1 and BRCA2 genes are the most common sites for hereditary breast cancer mutations, there are other hereditary gene mutations associated with breast cancer. nurses should be aware of the spectrum of hereditary cancer syndromes and their associated "red flags." Important skills for the oncology nurse interested in genetic health include careful assessment of benign and malignant disease histories, alertness to physical findings, performance of risk assessments, and ability to access genetic health resources. The following case study describes the assessment process for a less common genetic disorder known as Cowden syndrome, or multiple hamartoma syndrome, a hereditary cancer syndrome associated with early-onset breast cancer, thyroid cancer, goiters, enlarged head size, and a variety of skin findings.- - - - - - - - - - ranking = 0.058823529411765keywords = physical (Clic here for more details about this article) |
3/3. Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.A cytogenetically visible interstitial deletion of chromosome band 10q23 was found in a 6-year-old boy with mental retardation, dysmorphic features, and juvenile polyposis coli. In order to map this patient's deletion physically, we performed fluorescence in situ hybridization by using yeast artificial chromosomes (YACs) in the vicinity of the deletion. Five YACs that span an 11-15 cM region within the deletion were identified. This patient's deletion contains the putative locus for Cowden syndrome and a recently discovered candidate tumor suppressor gene (MMAC1 or PTEN) that has been implicated in the progression of a variety of human malignancies. Furthermore, the deletion is near and possibly overlaps a locus associated with juvenile polyposis. The findings in this patient with a constitutional 10q23 deletion raise the issue of whether there are separate genes in this region that are involved in Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis, and tumor progression, or whether all of these entities could be due to a single gene.- - - - - - - - - - ranking = 0.058823529411765keywords = physical (Clic here for more details about this article) |