Genetic Predisposition to Cancer Flashcards
what type of mutation is cancer
gremlin mutation
inherited from single alteration
can cause cancer syndromea
what are oncogenes
1 mutation sufficient enough for role of cancer development such as retinoblastoma which is tumour suppressor gene lost
what is the most common cause of familial cancer
faulty DNA mismatch repair
what is Lynch syndrome
mutation cause by mismatch repair genes
excess colorectal and gastric cancers
usually tumour in proximal colonw
what is the risk for brac1 and brac2
60-80% breast cancer
ovaria cancer 20-50%
what is autosomal dominant inheritance
each child has 50%of inheriting
no generations skipped
each parent has equal chance of passing on
when should you suspect hereditary cancer
cancer in 2 or more close relatives
early diagnosis
multiple primary tumours
bilateral or multiple rare cancers
what is the cancer genetic process
obtain family history
confirm diagnoses of cancer
risk
counselling
what kind of interventions are tere
increased awareness lifesyle-diet, exercise prevention screening prophylactic surgery
what are the breast cancer surveillance options
breast awareness
early clinical surveillance- annual breast exmas
mammogram
what is possible for a BRAC1 BRAC2 carrier
prophylactic mastectomy
what is prophylactic oophrectomy
animates risk of primary ovarian cancer
can decrease risk of breast cancer
what is the genetic testing for Lynch syndrome
microsatellite instability testing
immunohistopatholgy cytology
what are some benefits of screening for genetic syndromes
indentifies high risk
identifies non carriers
may relieve anxiet
what are some risks
does not detect all mutations
continued risk of sporadic cancer
