Genetics Flashcards
what type of inheritance/mutation leads to li-fraumeni syndrome?
- autosomal dominant
- germline mutations to p53 tumour suppressor gene
what does li-fraumeni syndrome leave patients at increased risk of?
- sarcomas
- leukaemias
how is li-fraumeni syndrome diagnosed?
- sarcoma development <45 years old
- 1st degree relative diagnosed with cancer <45 years old + another family member
OR - family member with sarcoma
what chromosome is BRCA1 found on?
chromosome 17
what chromosome is BRCA2 found on?
chromosome 13
what cancers does BRCA leave patients at higher risk of developing?
- breast cancer
- ovarian cancer
BRCA2 = prostate cancer in men
which type of BRCA is more strongly associated with ovarian cancer?
BRCA1
what type of inheritance is lynch syndrome?
autosomal dominant
what happens to patients with lynch syndrome?
- colonic cancer
- endometrial cancer
what is the amsterdam criteria?
- > /= 3 family members with confirmed colorectal cancer
- two successive affected generations
- > /= 1 diagnosed <50 years old
- familial adenomatous polyposis (FAP) has been excluded
what type of inheritance is gardners syndrome?
autosomal dominant familial colorectal polyposis
how does gardners syndrome present?
multiple colonic polyps
alongside colonic polpys, what can patients with gardners syndrome develop?
- skull osteoma
- thyroid cancer
- epidermoid cysts
- desmoid tumours
what is kartagener’s syndrome?
immotile cilia syndrome + situs inversus
