P1 GENETICS

Question 1

The process of helping people understand and adapt to the medical, psychological, and
familial implications of genetic contributions to disease

Answer 1

Genetic Counseling

Question 2

Genetic predisposition of Lynch syndrome

Answer 2

Autosomal dominant

Question 3

type of mutation seen in Lynch syndrome

Answer 3

mismatch repair genes MMR mutations

Question 4

which genes are mutated in Lynch syndrome

Answer 4

MLH1, MSH2, MSH6, PMS2 and epithelial cell
adhesion molecule EPCAM

Question 5

Mention at least 3 cancers associated with Lynch syndrome

Answer 5

endometrium, ovaries, stomach, small intestine, hepatobiliary tract, urinary tract, and CNS

Question 6

Turcot syndrome is related to which system

Answer 6

CNS tumors (glioblastomas)

Question 7

Muir-Torre syndrome is associated with what tumours

Answer 7

sebaceous adenomas or carcinomas

Question 8

a more comprehensive, cost-effective method of sequencing multiple genes
concurrently is known as

Answer 8

Next-generation sequencing
technology

Question 9

Genetic predisposition of FAP

Answer 9

Autosomal dominant

Question 10

FAP is associated with mutations of which gene

Answer 10

APC gene

Question 11

FAP+ cancers of the central nervous system, particularly medulloblastoma is known as which syndrome

Answer 11

Turcot syndrome

Question 12

Genetic predisposition of AFAP

Answer 12

Autosomal dominant

Question 13

FAP + prominent extraintestinal growths ( osteoma, epidermoid cysts, and
supernumerary teeth) is known as which syndrome

Answer 13

Gardner syndrome

Question 14

mutation in AFAP is seen on which gene

Answer 14

the extreme proximal or distal ends of the APC gene or in exon 9.

Question 15

Mutation in which gene is seen in MAP

Answer 15

biallelic mutation in MYH gene

Question 15

Genetic predisposition of MYH - Associated polyposis

Answer 15

Autosomal recessive

Question 16

Individuals with MAP are at high risk of developing which cancers

Answer 16

Thyroid and duodenal cancers

Question 17

genetic predisposition of Hamartomatous
Polyps

Answer 17

Autosomal dominant

Question 18

name the 3 Hamartomatous
Polyposis Syndromes

Answer 18

1-Peutz-Jeghers syndrome
2-Juvenile polyposis syndrome
3-Cowden syndrome

Question 19

what gene is affected in Cowden syndrome

Answer 19

PTEN gene

Question 20

what genes are affected in Juvenile polyposis syndrome

Answer 20

SMAD4 or BMPR1A genes

Question 21

what gene is affected in Peutz-Jeghers syndrome

Answer 21

STK11 gene

Question 22

Peutz-Jeghers syndrome clinical features

Answer 22

perioral and facial pigmentation

Question 23

Cowden syndrome is associated with what cancers

Answer 23

breast cancer, thyroid cancer,
endometrial cancer

Question 24

Genetic predisposition of LFS

Answer 24

rare autosomal dominant

Question 25

genetic mutation causing Li–Fraumeni syndrome

Answer 25

TP53 gene germline mutations

Question 26

in CRC risk management , you have a patient with Two 1st degree relatives with CRC any age . when will you start screening

Answer 26

40 years

Question 26

onset of CRC in Li–Fraumeni
syndrome

Answer 26

Early , prior the age 25

Question 27

in CRC risk management , you have a patient with One 1st degree relative with CRC>60 . when will you start screening

Answer 27

start average risk screening at the age of 40

Question 28

you have a patient with family history of FAP , at which age will you advise to start screening

Answer 28

10 - 12 years

Question 29

you have a patient with family history of HNPCC , at which age will you advise to start screening

Answer 29

20 - 25 years