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Genetic Cancers - Coggle Diagram
Genetic Cancers
Tumor Suppressor Inactivating/ Loss of Function Gene Mutation
FAP: Familial Adenomatous Polyposis
autosomal dominant
Clinical Problems
Development of hundreds of thousands of colorectal adenomas
in early adulthood
Congenital hypertrophy of retinal pigment epithelium (CHRPE)
cancer risks: duodenum, thyroid, pancreatic, hepatoblastoma
BRACA1/2 Mutation
Cancer Risks
Increased ovarian cancer risks
92% by age 70
40 - 85% Breast Cancer Risk
Population risk: Increased in Ashkenazi Jewish population
Mechanism:
BRACA1/2 is a tumor suppressor. BRACA1/2 mutation leads to impaired DNA repair of double-stranded DNA breaks
Fanconi Anemia
Mechanism:
Fanconi anemia genes are
tumor suppressors
. Mutations in this gene leads to defective repair of interstrand crosslinks leading to a
chromosomal breakage syndrome
Clinical Problems
Bone Marrow Suppression/
Pancytopenia
cafe--au-lait skin lesions (
skin pigmentation
)
radial defects/
wide thumbs (FAT Thumbs)
growth retardation, hearing loss, organ abnormalities
Not inherited; Random mutation
Retinoblastoma
Mechanism
Rb gene loss of function Mutation
Clinical problems
loss of the red reflex in at least one eye
Neurofibromatosis
Mechanism
Neurofibromin is a negative regulator of the ras gene, a proto-oncogene. Loss-of-function mutations of neurofibromin cause neurofibromatosis type 1
Clinical Findings
development of multiple noncancerous tumors of nerves and skin (neurofibromas) and areas of abnormal skin pigmentation.
Oncogenes: Gain of function in Pro-proliferation genes --> cancer
RET gain of function mutation
MEN2B: Multiple Endocrine Neoplasia Type 2
Clinical Symptoms
characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas
Melanoma
TERT
Telomerase protein; gain of function pmutation leads to uncontrolled telomere lengthening -->
melanoma
BRAF
BRAF is a protein kinase activated in melanoma
KRAS
Mismatch Repair Error
Lynch Syndrome
Colerectal Cancer risk!
Prophylactic Management
hysterectomy & bilateral oopherectomy
Clinical problems
also presents w/ polyps in Large intestine
