Genetics- Breast and Ovarian Cancer- Adkison Flashcards
what is the second leading cause of cancer-related death among women?
Breast Cancer (first is lung)
what gene is mutated in Hereditary Breast Cancer?
BRCA1, BRCA2
what gene is mutated in Li-Fraumeni?
TP53
What gene is mutated in Cowden syndrome?
PTEN
What gene is mutated in HNPCC?
MSH6, MSH2, MLS1, PMS2
what is the greatest risk for breast Cancer?
Increasing age
gene that contributes 20-40% as the cause of genetic related breast cancer? (as opposed to sporadic breast cancer)
BRCA1
what is the deadliest of all gynecological cancers?
ovarian cancer
what gene is responsible for 70% of hereditary Ovarian cancers?
BRCA1
what are BRCA1 and BRCA2?
tumor suppressor genes
what chromosome is BRCA1 and BRCA2?
17 and 13 respectively
what cancers are associated increase risk with the BRCA1 mutation?
breast cancer second primary breast cancer ovarian prostate colon
BRCA2- associated cancer risks?
breast male breast ovarian cancer prostate laryngeal pancreatic
in what population is it estimated 1 in 40 carry a BRCA1 or BRCA2 mutation?
Ashkenazi Jewish Population
three people in Ashkenazi Jewish population account for most of the BRCA1 and BRCA2 breast cancer. this is an example of what principle?
Founder mutation
what if a patient has an at-risk relative with the BRCA1/2 mutation present?
pt is a increased risk for BRCA1 and BRCA2 associated cancers
Li-Fraumeni syndrome is a mutation in what?
p53
what is p53s role in the cell cycle?
it is the last check point. last chance to save a cell from going into uncontrolled replication and cell cycle growth. p53 induced apoptosis of rampant cell to arrest this cycle
what is the inheritance pattern of Li-Fraumeni syndrome?
Autosomal dominant
when p53 recognizes damage to the cell and initiates cell apoptosis, what is it up-regulating to induce cell cycle G1 arrest?
p21 &/or GADD45
if you see in a family pedigree that a patient had a bilateral cancer, i.e. breast cancer. you should automatically think the cancer is due to what?
genetics
what is Cowden syndrome?
multiple hamartoma syndrome with high risk of benign and malignant tumors of the breast, thyroid, and endometrium
what is the inheritance pattern of Cowden syndrome aka multiple hamartoma syndrome?
autosomal dominant
In Cowden syndrome what protein and chromosome is the mutation?
PTEN on Chr 10
a Mutated PTEN doesn’t do its normal function which is?
dephosphorylates PIP3 to PIP2 to control growth pathways
hamartomas and pipillomas (lips and mucous membranes) are a hallmark of which syndrome?
Cowden syndrome- Papillomas
what is mutated in Hereditary Non-Polyposis Colon Cancer (HNPCC)?
MLH1, MSH2, MSH6 and PMS2 gene
what is another name for HNPCC and what does each subset entail?
Lynch Syndrome
Lynch 1 : right-sided predominence, multiple primary tumors
Lynch 2: lynch 1 plus colorectal cancers, carcinoma of the ovary, small bowel, stomach and pancreas, and transitional cell carcinoma of the ureter and the renal pelvis
what is the most common form of microsatellite instability?
dinucleotide repeats
