HRR: cancer genetics and genomics II Flashcards
Describe heritable retinoblastoma
mutation in RB1 gene; associated with blindness and mortality. Age of onset is typically less than 1 year, distribution is typically bilateral (90-95% of cases).
what is the risk of second malignancy with heritable retinoblastoma
5-15%
What is the recurrence risk of heritable retinoblastoma
50% risk of passing to offspring
What are the most common alterations in RB1 in heritable retinoblastoma
Mutation, deletion, epigenetic mechanism
Describe Li-Fraumeni syndrome
Mutation in TP53. Autosomal dominant inheritance pattern with almost a 100% cancer risk in affected females. Primary tumors are often seen at an early age, and there is a variety of tumor types. This is a rare but pretty devastating disorder
Describe familial adenomatous polyposis (FAP)
Mutations in the APC gene that leads to hundreds of polyps in the colon (colorectal cancer). If untreated, there is a 100% risk of cancer. 50% show up by age 14.
Describe APC gene
A tumor suppressor gene; mutation impacts the ability of the cell to maintain normal growth and function. It is involved in the WNT signaling pathway
Describe von Hippel Lindau disease
Heterozygous mutation in VHL gene associated with kidney cancer. It has an autosomal dominant inheritance pattern. Tumors form in areas with large amounts of blood vessels. Onset is typically 40-50, with 100% RISK BY 65. ASSOCIATED WITH HIF.
Describe lynch syndrome
Associated with colon cancers and has an autosomal dominant inheritance pattern. The involved genes belong to DNA mismatch repair family. We don’t see a whole bunch of polyps the way we do in FAP.
Describe inherited breast cancer
Mutations in BRCA1 or BRCA2 with an autosomal dominant inheritance pattern. 2nd leading cause of cancer related deaths in women. The average age of diagnosis is when women are in their 40s
Describe peutz-jeghers syndrome
Usually presents in the 20s and results in gastrointestinal cancers. Mucocutaneous hyperpigmentation is a big indicator. Results from mutation in STK11, a serine-threonine kinase
Are oncogenic viruses RNA or DNA based
could be either!
What are the mechanisms of oncogenic viruses
oThey can produce an oncogene that promotes activation of host proto-oncogene
oThey can produce a protein that promotes proliferation of a cell population in the host
oThey can cause chronic inflammation and accumulation of new mutations
What is precision medicine
Customizing healthcare to tailor it to patients in whatever way possible.
What is chemotherapy
A classic cytotoxic therapy that uses agents that are cytostatic or cytotoxic that arrest or kill rapidly dividing cells. They target all dividing cells, not just cancer cells. They tend to have uncomfortable side effects
