P1 GENETICS Flashcards
The process of helping people understand and adapt to the medical, psychological, and
familial implications of genetic contributions to disease
Genetic Counseling
Genetic predisposition of Lynch syndrome
Autosomal dominant
type of mutation seen in Lynch syndrome
mismatch repair genes MMR mutations
which genes are mutated in Lynch syndrome
MLH1, MSH2, MSH6, PMS2 and epithelial cell
adhesion molecule EPCAM
Mention at least 3 cancers associated with Lynch syndrome
endometrium, ovaries, stomach, small intestine, hepatobiliary tract, urinary tract, and CNS
Turcot syndrome is related to which system
CNS tumors (glioblastomas)
Muir-Torre syndrome is associated with what tumours
sebaceous adenomas or carcinomas
a more comprehensive, cost-effective method of sequencing multiple genes
concurrently is known as
Next-generation sequencing
technology
Genetic predisposition of FAP
Autosomal dominant
FAP is associated with mutations of which gene
APC gene
FAP+ cancers of the central nervous system, particularly medulloblastoma is known as which syndrome
Turcot syndrome
Genetic predisposition of AFAP
Autosomal dominant
FAP + prominent extraintestinal growths ( osteoma, epidermoid cysts, and
supernumerary teeth) is known as which syndrome
Gardner syndrome
mutation in AFAP is seen on which gene
the extreme proximal or distal ends of the APC gene or in exon 9.
Mutation in which gene is seen in MAP
biallelic mutation in MYH gene
Genetic predisposition of MYH - Associated polyposis
Autosomal recessive
Individuals with MAP are at high risk of developing which cancers
Thyroid and duodenal cancers
genetic predisposition of Hamartomatous
Polyps
Autosomal dominant
name the 3 Hamartomatous
Polyposis Syndromes
1-Peutz-Jeghers syndrome
2-Juvenile polyposis syndrome
3-Cowden syndrome
what gene is affected in Cowden syndrome
PTEN gene
what genes are affected in Juvenile polyposis syndrome
SMAD4 or BMPR1A genes
what gene is affected in Peutz-Jeghers syndrome
STK11 gene
Peutz-Jeghers syndrome clinical features
perioral and facial pigmentation
Cowden syndrome is associated with what cancers
breast cancer, thyroid cancer,
endometrial cancer
Genetic predisposition of LFS
rare autosomal dominant
genetic mutation causing Li–Fraumeni syndrome
TP53 gene germline mutations
in CRC risk management , you have a patient with Two 1st degree relatives with CRC any age . when will you start screening
40 years
onset of CRC in Li–Fraumeni
syndrome
Early , prior the age 25
in CRC risk management , you have a patient with One 1st degree relative with CRC>60 . when will you start screening
start average risk screening at the age of 40
you have a patient with family history of FAP , at which age will you advise to start screening
10 - 12 years
you have a patient with family history of HNPCC , at which age will you advise to start screening
20 - 25 years
