Genetic Predisposition to Cancer Flashcards
Oncogenes
accelerate cell division
Tumour Supressor genes
Cell brakes for cell growth
DNA damage-response genes
Repair mechanics for DNA
MLH1, MSH2, MSH6
MSI is__
the phenotypic evidence that MMR is not functioning normally
Cells with abnormally functioning MMR tend to
accumulate errors
Dysplastic
benign but could progress to malignancy
Other causes of cancer
Autosomal recessive syndrome- MYH polyposis
Multiple modifier genes
De novo mutations
Most cancer susceptibility genes are
dominant with incomplete penetrance
Features of Retinoblastoma
Most common eye tumour in children
Can occur in heritable and non heritable forms
Important to identify at-risk infants
Risk factors for breast cancer
ageing Family history Early Menarche Late menopause Nullparity Oestrogen use Diet Lack of exercise
Cause of hereditary breast cancer
BRCA1, BRCA2, TP53, PTEN
Risk factor for colorectal cancer
Ageing Personal history of CRC or adenomas High fat, low fibre IBD Family history
Hereditary CRC non-polyposis
Few adenomas
Tumour site throughout colon
Hereditary CRC polyposis
Multiple adenomas
FAP
AFAP
MAP