Inherited breast cancer Flashcards
% of breast cancers that are inherited
5-10%
BRCA1 location
17q
BRCA2 location
13q
Other cancers that inherited breast cancer is linked with
Ovarian, prostate and pancreatic
Inherited breast cancer tends to present before what age
50 years
Inheritance pattern of inherited breast cancer
Autosomal dominant
Bilateral or unilateral breast cancer - which is more likely to be inherited?
Bilateral
BRCA - large or small genes?
Large
BRCA proteins are involved in
Repair of double strand breaks
Mutation types in BRCA1/2
Small indels and substitutions in both. BRCA1 - also have large deletions and duplications. Tend to result in truncated protein
Increased risk of male breast cancer if you have a mutation in
BRCA2
Population risk of breast cancer
12%
Population risk of ovarian cancer
1.3%
BRCA1 mutation increases breast cancer risk to
72%
BRCA2 mutation increases breast cancer risk to
69%