Neoplasia/Pedigrees Flashcards
(41 cards)
Progressive neurological/lysosomal disease; associated with Ashkenazi Jews; missing enzyme that breaks down lipids. Type?
Tay-Sachs Disease; autosomal recessive
Disease that causes increased intestinal absorption of iron. Type?
Hereditary hemochromatosis; autosomal recessive
Condition of connective tissue; high rate of isolated cases from mutations. Type?
Marfan syndrome; autosomal dominant
Why do X-linked Dominant diseases in females present with milder symptoms?
X-inactivation
Autosomal dominant genetic disorder characterized by brittle bones; type?
Osteogenesis imperfecta; mosaicism
Disorder with progressive amplification of nucleotide repeats in successive generations; maternal anticipation. Type?
Fragile x syndrome; nucleotide repeat disorder
Disease characterized by developmental delay, hypotonia, and hyperphagia. Lack of expression of paternal genes. Type?
Prader-Willie Syndrome; genomic imprinting
Disease characterized by developmental delay, movement disorder, and seizures. Lack of expression of maternal allele. Type?
Angelman Syndrome; genomic imprinting
What are some risks for multifactoral inheritance?
Close affected relative
Several affected relatives
Sex-specific to patient’s gender
What are the recurrence rate and risk characteristics of pyloric stenosis?
Recurrence rate is higher with females (more likely to be passed on to offspring)
Males are more susceptible
Mutation of this enzyme results in retinoblastoma
RB
Mutation of this enzyme results in Li-Fraumeni Syndrome
TP53
Mutations in these enzymes lead to breast and ovarian cancers
BRCA1/BRCA2
What are the 3 steps for tumor formation?
a. Breakthrough phase - single cell develops a specific driver-gene mutation —> proliferates abnormally
b. Expansion phase - cell develops and additional driver-gene mutation that gives rise to a benign tumor
c. Invasive phase - cell develops an additional driver-gene mutation in at least one pathway, enabling it to invade surrounding tissues
What are the 6 hallmarks of cancer?
Uncontrolled growth Evading growth suppressors Activating invasion and metastasis Enabling replication immortality Inducing angiogenesis Resisting cell death
What are the two important tumor suppressors?
TGF-beta, P53
What are the two important oncogenes?
EGF, PDGF
How does metastasis occur?
i. Mutated cells start to loosen intercellular junctions and degrade collagen
1) Normal cells die when they lose contact with surrounding cells or basement membrane - not cancer cells
ii. The adhere to and invade the basement membrane
iii. Eventually pass through extracellular matrix and enter a blood vessel where that can be deposited in other parts of the body
iv. Leads to angiogenesis and tumor growth
What can lead to replication immortality in cancer cells?
Hyperactivation of telomerase (or abnormal DNA replication)
What cancer cell signaling molecule is responsible for angiogenesis?
VEGF
What two receptors are important for the extrinsic pathway for apoptosis?
Fas and TNF
Tumors express what receptor to “turn off” immune cells?
PD-L1
What HAS to be inactivated for replication immortality to occur?
P53
What are some risks for breast/ovarian hereditary cancers?
- breast cancer < 45
- ovarian cancer
- male breast cancer
- Ashkenazi Jewish ancestry w/ HBOC-associated cancer
- BRCA mutation in family
