precision medeccine

Question 1

most common genetic mutations associated with breast cancer

Answer 1

BRCA1
BRCA 2
CHEK 2

Question 2

what are the main methods associated with DNA sequence

Answer 2

PCR
Sanger - NGS
probes : Microarray

Question 3

pros of
Sanger vs NGS

Answer 3

sanger - cheap method with high precision that has a short turnaround time
NGS - is able to study thee whole genome and exomes
and has broad adaptability

Question 4

results on microarray

Answer 4

A homozygote for a mutation will have a more intense spot than a heterozygote for the same mutation

Question 5

what is the choice for diagnosticc method for patients with breast or ovarian cancer & for population screening

Answer 5

PCR

Question 6

what is the most appropriate diagnostic method for detecting microsatellite instability

Answer 6

IHC or PCR

Question 7

what diagnostic method can be used for multigene analysis

Answer 7

NGS

Question 8

problem with mis-sense mutations that are classified as variants of uncertain significance ?

Answer 8

may be disease predisposing

Question 9

what is the mandatory procedure associated with CRC patients that are considered for cetuximab anpanitumumab treatment ?

Answer 9

must first perform KRAS and NRAS testing
mutations ? no benefit
wild type ? some form of benfit

Question 10

what is microsatellite instability

Answer 10

phenotype feature of cancer which develops due to deficiency of DNA mismatch repair ( MMR)

Question 11

what is the first line treatmeent for MSI high neeoplasms ?

Answer 11

MSI high ( microsatellite instability )
immunotheerapy
Anti-PDL1
pembrolizumab

Question 12

Protein markers are not truly tumor-specific but

Answer 12

tissue specific

Question 13

what are the three levels associated with risk assessment in hereditary breast cancer ?

Answer 13

high risk HBC
intermediate risk HBC
low risk HBC

Question 14

features of intermediate risk for HBC

Answer 14

two 1st or 2nd degree on same side of the family with breast cancer below thee age of 70 or ovarian cancer of any age
or
one 1st or 2nd degree relatives with breast cancer aged 35-49

Question 15

features of high risk for HBC

Answer 15

relatives with BRCA1 or BRCA2 mutations
* Two relatives on the same side of the family with breast cancer <50 or ovarian cancer (any age)

• One 1st/2nd degree relative with breast cancer:
  * <35 years
  * Bilateral, first before age 50
  * Breast and ovarian cancer (any age)
  * Male breast cancer