Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0699790 (colon cancer)
 28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial adenomatous polyposis is a severe autosomal dominant cancer predisposition syndrome. It is characterized by the development of hundreds to thousands of polyps in the gastrointestinal tract, primarily in the colon, at a mean age of 16 years. Without a colectomy, colon cancer is inevitable. FAP is caused by mutations in the adenomatous polyposis coli (APC) gene. A couple was referred to Monash IVF following a request to undertake preimplantation genetic diagnosis for FAP. The female proband had an AGTT deletion mutation in exon 15 of the APC gene. Analysis of the APC-linked marker D5S346 showed that the parental alleles were fully informative. A multiplex polymerase chain reaction (PCR) test was developed involving direct mutation detection and the co-analysis of D5S346 to identify allele drop out and avoid a misdiagnosis. The delAGTT mutation and D5S346 alleles were diagnosed by fluorescent PCR and allele sizing. Following standard hormone stimulation and IVF procedures, 14 oocytes were collected, 11 inseminated and nine embryos were biopsied on day 3. Of the nine embryos that were analysed, five embryos were affected and four were unaffected. Two unaffected embryos were transferred on day 4 resulting in a triplet pregnancy and the birth of three healthy babies.
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PMID:Preimplantation genetic diagnosis of familial adenomatous polyposis. 1716 85

Transplantation of cryopreserved tissue from patients with cancer may carry the risk of reactivation or redissemination of micrometastases. This prospective study was conducted to evaluate the potential involvement of micrometastases in ovarian tissue in cancer patients. Ovarian biopsies were collected from patients who underwent ovarian tissue cryopreservation, in our IVF unit before chemotherapy between 2000 and 2008. Indications for cryopreservation included breast cancer (n=13), osteosarcoma (n=13), hematologic malignancies (n=13), uterine cervix carcinoma (n=2), endometrial carcinoma (n=1), colon cancer (n=1), and brain medulloblastoma (n=1). The samples were stained with hematoxylin and eosin, and examined histologically. Immunoperoxidase broad-spectrum cytokeratin staining was also performed on specimens from breast cancer patients. There were 44 patients (age range 5-40 yr) who yielded 40 specimens. No gross pathologic involvement was observed, and the histologic examination revealed normal histology with no evidence of metastases. Our findings showed that for the purpose of considering ovarian tissue cryopreservation in cancer patients, the likelihood of microscopic metastases within ovaries of normal appearance is apparently very low. Clarification of the actual risk of ovarian involvement and any subsequent risk of micrometastases and tumor reimplantation requires further investigation.
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PMID:Histologic evaluation of fresh human ovarian tissue before cryopreservation. 1995 43