Cancer genetics Flashcards
Dominant inheritance
HuntinGoons
Mar fan
Hereditary breast and ovarian cancer
Factors suggesting inherited predisposition
Common cancer at unusually young age
Uncommon cancer in 2 close relatives
Multiple primary tumours
Associated abnormalities
How many mutations needed to have sporadic cancer
On both alleles
How many mutations needed to have inherited cancer
1 as the other allele is already mutated
What % of cancer is hereditary and caused by by inherited gene
5-10
What % of people with cancer have a family history
20
In hereditary cancer it’s important to
Detect disease at early curative stage
Identify those at increased risk of cancer
Offer targeted surveillance and treatment
BRCA1 associated cancer risk
Breast cancer 70% (often early age at onset)
Second primary breast cancer 65%
Ovarian cancer 45%
Increase chance of prostate cancer in men
BRCA2 lifetime risk
Female breast cancer same as brca1
Contractural breast 65%
Ovarian cancer 20%
Male breast cancer- inc risk of prostate and pancreatic cancer
Breast cancer gene panel
BRCA1 BRCA2 Palb2 Chek2del 1100c Tp53 under 30s
Signs of colon pre cancer
Neoplasticism polyps (high risk)
Lynch syndrome is due to
Break in mismatch repair genes
MLH1,MSH2,MSH6,PMS2
Risk assessment based on
The condition : pattern of inheritance, penetrate
The patient: presentation, family history
Guidance: NICE guidelines, multidisciplinary teams
High risk/ inherited
Managed by genetic testing
Moderate risk (familial) manger by
Secondary care/screening)
