familial cancer syndromes

Question 1

retinoblastoma

Answer 1

Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina

In children with the heritable genetic form of retinoblastoma there is a mutation in the RB1 gene on chromosome 13.

Question 2

Multiple endocrine neoplasia (MEN)

Answer 2

autosomal dominant
menin tumor suppressor gene

MEN I (3 Ps) - Pituitary, Parathyroid, Pancreatic
MEN IIa (2Ps, 1M) - Pheochromocytoma, Parathyroid, Medullary Thyroid Ca
MEN IIb (1P, 2Ms) - Pheochromocytoma, Medullary Thyroid Ca, Marfanoid habitus/mucosal neuroma

Question 3

Familial breast cancer

Answer 3

most breast Ca is sporadic not inherited

5% associated with germline mutations

BRCA1 / BRCA2
tumor suppressor genes

Question 4

LI fraumeni syndrome

Answer 4

p53 mutation
range of cancers
SBLA
sarcoma
breast
leukemia
adrenal

young age of diagnosis
high lifetime risk

Question 5

Cowden syndrome

Answer 5

pTEN mutation

autosomal dominant inherited disorder characterized by multiple non-cancerous tumor-like growths called hamartomas

increased risk of breast cancer
increased risk of thyroid cancer

Question 6

familial adenomatous polyposis

Answer 6

numerous adenomatous polyps form mainly in the epithelium of the large intestine.

starts in teenage years
100% penetrance

mutations in APC gene

total prophylactic colectomy

mutations in mutYH can result in a similar disease but is autosomal recessive

Question 7

peutz jeghers syndrome

Answer 7

autosomal dominant genetic disorder

benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa

STK11/LKB1 gene

Question 8

lynch syndrome

Answer 8

HNPCC

autosomal dominant genetic condition that has a high risk of colon cancer

DNA mismatch repair gene mutations
CRC, endometrial, ovarian, brain

3 or more relatives
2 or more generations
1 or more diagnosis before age 50
no FAP