Genetics Application of Genetics to Cancer

Question 1

Name some features suggestive of heriditary cancer in the

Individual patient:
[…]

Familial clustering:
[…]

Answer 1

Name some features suggestive of heriditary cancer in the

Individual patient:
- Tumour diagnosed at younger than usual age
- Tumours with rare histology
- Tumours occuring in sex that is usually not affected
- Multiple primary tumours
- Familial clustering of tumours

Familial clustering:
- >1 first degree relatives with tumour of the same site
- >1 first degree relatives with tumour belonging to a known familial cancer syndrome
-* >1 first degree relatives with rare tumours*
- >2 relatives in 2 gen with tumours of same site or etiologically related sites

Question 2

What are some common hereditary cancer syndrome (and their causative gene)?

[…]

Answer 2

What are some common hereditary cancer syndrome (and their causative gene)?

• HBOC syndrome (BRCA1/2)
• HNPCC/Lynch syndrome (MMR genes)
• FAP (APC)
• Li Fraumeni Syndrome (p53)

HBOC = Hereditary Breast & Ovarian Cancer
HNPCC = Heriditary Non-Polyposis Colorectal Cancer
FAP = Familial Adenomatous Polyposis