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Genetic Cancer Syndromes

Genetic Cancer Syndromes. 15% of all cancer patients have an inherited risk. Information source:. http://www.mostgene.org/gd/gdvol17g.htm. Figures source:. http://www.drkoop.com. Bloom Syndrome.

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Genetic Cancer Syndromes

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  1. Genetic Cancer Syndromes 15% of all cancer patients have an inherited risk. Information source: http://www.mostgene.org/gd/gdvol17g.htm Figures source: http://www.drkoop.com

  2. Bloom Syndrome ...is inherited as an autosomal recessive disease which causes increased frequencies of breaks and interchanges of chromosomes. The probable gene product of the BLM gene associated with Bloom syndrome has been identified as a DNA helicase, an enzyme involved in maintaining DNA integrity.

  3. Li-Fraumeni syndrome TP53 Neurofibromatosis 1 NF1 Tuberous sclerosis 2 TSC2 Hereditary Wilms' tumor WT1

  4. breast cancer colon cancer melanoma, papillary renal cell carcinoma, retinoblastoma, leukemia/lymphoma associated with immunodeficiency disorders and chromosome instability syndromes, multiple endocrine neoplasias (MEN1, MEN2), von Hippel-Lindau disease

  5. Familial colon cancers: FAP is an autosomal dominant inherited disease due to mutations in the APC gene in chromosome 5.

  6. Familial colon cancers: By age 35 years, 95% of individuals with FAP have polyps.

  7. Familial colon cancers: APC = adenomatosis polyposis coli = TUMOR SUPPRESSOR. ALLOWS THE RAPID TURNOVER OF BETA- CATENIN. APC ACTIVITY CORRELATED WITH ITS PHOSPHORYLATION STATE ALLOWS THE DOWN-REGULATION OF CYTOPLASMIC BETA-CATENIN.

  8. Familial colon cancers: http://www.ama-assn.org/cmeselec/hnpcc/target/005_muta/index.htm A second kind of inherited colon cancer is hereditary nonpolyposis colorectal cancer (HNPCC).

  9. Melanoma:tumor suppressor gene p16 or proto-oncogene CDK Approximately one in ten individuals with melanoma has an inherited predisposition to this cancer. CDK4 is only the second human germ-line oncogene to be described, the first one being RET (CG:94). See OMIM:123829 for CMM3 (Melanoma, cutaneous malignant,3).

  10. Basal Cell Carcinoma Scientists have now isolated the gene that causes BCNS, suspected of being behind basal cell carcinoma. They found it by isolating a gene whose mutation causes runaway cell growth in fruit flies, then identifying the comparable gene in humans.

  11. Retinoblastoma: The gene responsible for retinoblastoma is the tumor suppressor gene, RB. 100% of bilateral cases of retinoblastoma (average age of onset is eight months) are of genetic etiology as are 10-15% of sporadic unilateral cases (average age of onset is two years of age).

  12. Risk Factors for Inherited Cancers Have several close family members been affected by cancer? Has cancer occurred at an unusually young age in your family? Has anyone in your family had more than one cancer (such as breast and colon, or both breasts)? Are there unusual or rare types of cancer in your family?

  13. Genetic testing is now available for breast,ovarian, colon, prostate and some skin cancers.

  14. Familial Adenomatous Polyposis (FAP) • Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Screening and Mismatch Repair Gene(s) DNA Sequencing • BRCA1 and BRCA2 Protein Trucation Testing • BRCA1 and BRCA2 Direct Testing for known mutations • Fanconi Anemia • Bloom syndrome • Bone marrow (blood and tissue) karyotyping • Fluorescent in situ Hybridization (FISH) for marrow transplantation monitoring • FISH for tumor translocations • 7-FISH and Comparative Genomic Hybridization (CGH) for unknown cancer karyotypic change • PCR molecular testing for common tumor markers

  15. Cancer Genetics Case Studies http://www.cancergenetics.org/medcase2.htm

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