Cancer Syndromes You Better Fucking Know Flashcards
Cancer Predisposition with mutation in RB
- Inheritance?
Retinoblastoma
Autosomal Dominant
Cancer Predisposition with mutation in TP53
- Inheritance?
Li-Fraumeni Syndrome (lots of tumors)
Autosomal Dominant
Cancer Predisposition with mutation in APC
- Inheritance?
Familial adenomatous Polyposis/Colon Cancer
Autosomal Dominant
Cancer Predisposition with mutation in NF1, NF2
- Inheritance?
Neurofibromatosis
Autosomal Dominant
Cancer Predisposition with mutation in BRCA1/2
- Inheritance?
Breast and Ovarian Cancer
Autosomal Dominant
Cancer Predisposition with mutation in MEN1, RET
- Inheritance?
Multiple Endocrine Neoplasia 1 and 2
Thyroid Cancer
Autosomal Dominant
Cancer Predisposition with mutation in MSH2, MLH1, MSH6
- Inheritance?
Hereditiary NONpolyposis colon cancer = LYNCH SYNDROME
Autosomal Dominant
What are the autosomal Recessive Syndromes of Defective DNA repair to know?
FAX-B
- Fanconi Anemia
- Ataxia Telangeictasia
- Xeroderma Pigmantosum
- Bloom Sydrome
What are 3 familial Cancers of Uncertain Inheritance?
Breast Cancer
Ovarian Cancer
Pancreatic Cancer
p16INK4A mutation is linked to what cancer?
- inheritance?
- Melanoma
- Autosomal Dominant
What diseases are associated with:
- CMYC
- NMYC
- LMYC
CMYC - Burkitt Lymphoma
NMYC - Neroblastoma
LMYC - Small cell carcinoma
What a defect leading to overactive Cyclin D1 lead to?
Mantle Cell Carcinoma
What does an inherited defect in p16/CDKN2A cause?
Familial Melanoma
What does a defect in c-kit cause?
G.I. Stromal Tumors
What does adefect in KRAS cause?
Pancreatic cancer
Colon cancer
What does a defect in GTPase cause?
Neurofibromatosis 1
What does a defect in BCR-ABL cause?
Chronic Myelogenous Leukemia (CML)
What does a defect in EML4-ALK cause?
Adenocarcinoma of the lung
What does a defect in BRAF cause?
- Melanoma
- Hairy cell leukemia
What does a defect in CDK4 cause?
FAMM (familial atypical multiple mole melanoma)
What does adefect in PTEN cause?
Aquired; endometrium Cowden syndrome (Hamartomas in the skin and mucus membranes)
What does a defect in NFkB cause?
Secondary Lymphoma (reason for lymphoma resulting from chronic inflammation)
What does a defect in E-Cadherin cause?
Gastric adenocarcinoma
Breast adenocarcinoma
What does a defect in Bcl-2 cause?
B Cell follicular Lymphoma
What is the most common acquired mutation in cancer?
p53 mutation
What molecule is believed to be responsible for tumor cachexia?
TNF-alpha
What does a defect in VHL cause?
Renal Cell Cancer
Pheochromocytomas
Hemangiomas of CNS
