LYNCH
HBOC
Misc
Genetics/Biology
100
These are three of the (usually) four proteins tested for on IHC
What are
MLH 1, MSH 2, MSH 6, PMS 2
100
This is the most effective method of risk reduction for a patient age 42 with BRCA-1 mutation who is done with childbearing
What is RR-BSO?
100
These are all types of "first-degree" relatives
What are siblings, children, and parents
100
This is the directionality of DNA and RNA synthesis
What is 5' -> 3'
200
True or False:
For women with Lynch who have completed child bearing and are undergoing prophylactic hysterectomy, endometrial sampling should be done before hand
True
preoperative endometrial sampling is indicated, and opening the uterine specimen for intraoperative examination of the endometrium may be considered
200
Risk-reducing salpingo-oophorectomy reduces risk of breast cancer by ___% and ovarian cancer by ____%
(within 10% of each)
What is 50 and 85-90
200
This describes what a first cousin once removed is
200
These are the two "ends" of DNA
100 point bonus: what are the differences between these "ends"
What are the 5' region and the 3' region
5' end had a phosphate group and cannot add to it
3' end - hydroxyl group
300
True or false: The risk of cancer varies according to the mismatch repair mutation.
True
e.g. in MLH1 mutation carriers, the risk of endometrial cancer is 20–54% by age 70 years
Carriers of an MSH2 mutation may have a slightly lower risk of endometrial cancer, which is reported to be 21–49% by age 70 years
For MSH6 mutation carriers, the cumulative risk of endometrial cancer is 16–61% by age 70 years and is notable for a later average age of disease onset
300
True or false:
The current National Comprehensive Cancer Network guidelines recommend that bilateral salpingo-oophorectomy also be considered for carriers of BRIP1, RAD51C, and RAD51D at ages 45–50
True
300
Tamoxifen and raloxifene were found to be associated with decreased risk of this type of breast cancer
What is estrogen receptor positive breast cancer?
300
This describes the "two-hit hypothesis"
What is when a defective tumor suppressor or oncogene allele is inherited from their father or mother, but they have a second, functional allele. If the second allele becomes nonfunctional as a result of a somatic mutation, cancer can develop. This is called the “two-hit hypothesis”
400
This is the method Lynch syndrome is inherited
What is autosomal dominant?
400
True or false:
More cases of microscopic fallopian tube cancer have been detected than microscopic ovarian cancer in the prophylactic risk-reducing salpingo-oophorectomy specimens of BRCA1 and BRCA2 mutation carriers
True
400
This is what PARP stands for and this is why PARP inhibitors work
What is Poly (ADP-Ribose)
PARP trapping - replication forks stall and break
Prevents nucleotide excision and repair leading to DSB
400
These are the phases of mitosis
What are prophase, metaphase, anaphase, and telophase?
PMAT
500
For women with lynch syndrome, this type of screening is recommended beginning at this age.
endometrial biopsy every 1–2 years, starting at age 30–35 years
500
True or false:
Preliminary data have suggested that women from families with a history of only breast cancer (but not ovarian cancer) in which no BRCA mutation is identified remain at a significantly increased risk of ovarian cancer
What is false: just increased risk of breast cancer in this unique population
500
This describes synthetic lethality
A combination of deficiencies in the expression of two or more genes leads to cell death, whereas a deficiency in only one of these genes does no.
500
A somatic mutation of this gene can cause many serous cancers (uterine and ovarian) and a germline mutation can cause Li Fraumeni syndrome
What is p53?