Genetic syndromes and cancer Flashcards
1
Q
Genetic syndromes and cancer
A
- FAP
- Lynch
- MEN1
- MEN2A
- MEN2B
- Retinoblastoma
- Li Fraumeni syndrome
2
Q
Lynch syndrome
A
- Also known as hereditary non-polyposis colorectal cancer (HNPCC). It presents as a strong familial prevalence of colorectal cancer, endometrial cancer and ovarian cancer.
- It is caused by mutations in the DNA mismatch repair genes (MSH1/MSH2). It should be suspected if there is a strong family history with >3 affected relatives.
- Inheritance is autosomal dominant and genetic testing is indicated in suspected individuals.
- Lifetime risk of a cancer diagnosis increases dramatically by 60% for colorectal cancer and 40% for endometrial cancer in patients who carry the mutation.
3
Q
Familial adenomatosis polyposis
A
- Is commonly inherited in an autosomal dominant pattern
- Caused by mutations within the APC gene which lead to the formation of hundreds of polyps within the colon and patients will inevitably develop carcinoma.
4
Q
Retinoblastoma
A
Germ line mutations in the retinoblastoma gene (Rb) predispose to retinoblastoma which occurs in childhood.
- It is the most common type of eye cancer in children
5
Q
Li Fraumeni syndrome
A
- A rare autosomal dominant disorder
- It is the result of germ line mutation of the p53 tumour suppressor gene.
- It leads to an increased risk of sarcoma and cancer of the breast, brain and adrenal glands.
- People who are female at birth who have Li-Fraumeni syndrome have a nearly 100% chance of developing breast cance
6
Q
MEN 1 Syndrome
A
Causes neoplastic mutations of the: THE 3 Ps
- Pituitary
- Parathyroid
- Pancreas.
It is caused by mutations in the MEN1 gene.
7
Q
MEN 2A Syndrome
A
Caused by mutations within the RET oncogene. Results in:
- Medullary thyroid cancer
- Phaechromocytoma
- Parathyroid adenoma.
8
Q
MEN 2B Syndrome
A
Caused by mutations within the RET oncogene.
Results in:
- Medullary thyroid cancer
- Phaechromocytoma
- Mucosal neuroma
- Gastro-intestinal complaints
- Craniosynostosis
