Cancer Genetics
Across
- 2. The one Angelina Jolie has.
- 5. Inherited in an autosomal dominant manner this genetic variant predisposes the individual to familial isolated pituitary adenoma (FIPA)
- 7. Rare, dominantly inherited hereditary tumor syndrome characterised by the development of specific rare types of benign and malignant tumours. The most frequently reported tumours are pleuropulmonary blastoma, cystic nephroma, multinodular goitre and certain rare types of ovarian tumours
- 8. We would specifically recommend colonoscopies as preventative screening method and appropriate colectomy to prevent FAP (familial adenomatous polyposis)
- 9. von Hippel-Lindau, predisposition to renal clear cell carcinoma, phaeochromocytoma, retinal haemangioblastomas (commonly known as retinal angiomas) and central nervous system haemangioblastomas.
- 11. If you had Familial melanoma with a risk calculation of 52% of developing one by age 80 yrs
- 14. Li-Fraumeni
- 15. Or multiple endocrine neoplasia type 1, classified as having predisposition to synchronous or metachronous endocrine tumours
- 18. Paraganglioma-phaeochromocytoma (tumors that develop from cells in the nervous system that can produce adrenaline and other hormones)
- 20. Cowden syndrome is part of these syndromes which is characterised by multiple non-cancerous growths (hamartomas)
Down
- 1. Familial breast and prostate cancer predisposition; inherited autosomal dominant (also think Angelina Jolie)
- 3. suspected in All individuals with a personal history of retinoblastoma.
- 4. Related with Hyperparathyroidism-jaw tumor syndrome secondary to parathyroid neoplasm and ossifying fibromas/cemento-ossifying fibromas of the maxilla or mandible.
- 6. Familial breast cancer predisposition due to a monoallelic germline loss-of-function with a 53% risk of developing breast cancer by age 80.
- 10. Considered an autosomal dominant inherited condition that causes Hereditary diffuse gastric cancer (HDGC)
- 12. Characterised by the development of nerve cell tumors such as schwannomas and meningiomas, ophthalmological and skin lesions, and peripheral neuropathy.
- 13. associated with a moderately increased risk of breast, pancreatic, and prostate cancer
- 15. Gastrointestinal polyposis and colorectal cancer, would be considered a gene of interest in and 20 or more adenomas any age
- 16. Also known as Neurofibromatosis type 1, an autosomal dominant benign and malignant tumor predisposition syndrome, characterised by the development of benign peripheral nerve sheath tumours (neurofibromas)
- 17. Also referred to as Birt-Hogg-Dubé an autosomal dominant condition with a predisposition to benign skin lesions, renal tumours and lung cysts leading to pneumothoraces
- 19. development of various tumors, due to a heritable autosomal dominant misfunction. Associated with the following cancers: uveal melanoma, malignant mesothelioma, cutaneous melanoma, renal cell carcinoma, basal cell carcinoma and rhabdoid meningioma.