Genetics- Breast and Ovarian Cancer- Adkison

Question 1

what is the second leading cause of cancer-related death among women?

Answer 1

Breast Cancer (first is lung)

Question 2

what gene is mutated in Hereditary Breast Cancer?

Answer 2

BRCA1, BRCA2

Question 3

what gene is mutated in Li-Fraumeni?

Answer 3

TP53

Question 4

What gene is mutated in Cowden syndrome?

Answer 4

PTEN

Question 5

What gene is mutated in HNPCC?

Answer 5

MSH6, MSH2, MLS1, PMS2

Question 6

what is the greatest risk for breast Cancer?

Answer 6

Increasing age

Question 7

gene that contributes 20-40% as the cause of genetic related breast cancer? (as opposed to sporadic breast cancer)

Answer 7

BRCA1

Question 8

what is the deadliest of all gynecological cancers?

Answer 8

ovarian cancer

Question 9

what gene is responsible for 70% of hereditary Ovarian cancers?

Answer 9

BRCA1

Question 10

what are BRCA1 and BRCA2?

Answer 10

tumor suppressor genes

Question 11

what chromosome is BRCA1 and BRCA2?

Answer 11

17 and 13 respectively

Question 12

what cancers are associated increase risk with the BRCA1 mutation?

Answer 12

breast cancer
second primary breast cancer
ovarian
prostate
colon

Question 13

BRCA2- associated cancer risks?

Answer 13

breast
male breast
ovarian cancer
prostate
laryngeal
pancreatic

Question 14

in what population is it estimated 1 in 40 carry a BRCA1 or BRCA2 mutation?

Answer 14

Ashkenazi Jewish Population

Question 15

three people in Ashkenazi Jewish population account for most of the BRCA1 and BRCA2 breast cancer. this is an example of what principle?

Answer 15

Founder mutation

Question 16

what if a patient has an at-risk relative with the BRCA1/2 mutation present?

Answer 16

pt is a increased risk for BRCA1 and BRCA2 associated cancers

Question 17

Li-Fraumeni syndrome is a mutation in what?

Answer 17

p53

Question 18

what is p53s role in the cell cycle?

Answer 18

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

Question 19

what is the inheritance pattern of Li-Fraumeni syndrome?

Answer 19

Autosomal dominant

Question 20

when p53 recognizes damage to the cell and initiates cell apoptosis, what is it up-regulating to induce cell cycle G1 arrest?

Answer 20

p21 &/or GADD45

Question 21

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?

Answer 21

genetics

Question 22

what is Cowden syndrome?

Answer 22

multiple hamartoma syndrome with high risk of benign and malignant tumors of the breast, thyroid, and endometrium

Question 23

what is the inheritance pattern of Cowden syndrome aka multiple hamartoma syndrome?

Answer 23

autosomal dominant

Question 24

In Cowden syndrome what protein and chromosome is the mutation?

Answer 24

PTEN on Chr 10

Question 25

a Mutated PTEN doesn’t do its normal function which is?

Answer 25

dephosphorylates PIP3 to PIP2 to control growth pathways

Question 26

hamartomas and pipillomas (lips and mucous membranes) are a hallmark of which syndrome?

Answer 26

Cowden syndrome- Papillomas

Question 27

what is mutated in Hereditary Non-Polyposis Colon Cancer (HNPCC)?

Answer 27

MLH1, MSH2, MSH6 and PMS2 gene

Question 28

what is another name for HNPCC and what does each subset entail?

Answer 28

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

Question 29

what is the most common form of microsatellite instability?

Answer 29

dinucleotide repeats