Hereditary cancer Flashcards
What information can diagnostic testing provide?
Cause
Treatment sensitivity
Future risk
What is cascade testing?
Predictive testing for asymptomatic relatives
Which features suggest a hereditary cancer?
early onset
multiple primaries
close relatives
multiple generations
tumour histology/pathology
different types of cancer or unusual cancers
ancestry
Which cancers does the BRCA mutation cause?
Triple negative breast
Prostate
Pancreatic
What is an advantage of panel testing?
Find overlapping syndromes
Challenges of panel testing
- more vus
- multiple positive findings
- incidental
Moderate risk of breast cancer
17-30%
At what age should surveillance generally start for each level of breast cancer risk?
Moderate - 40
High - 35
Very high - 30
TP53 - 20
TP53 carriers should avoid…
radiation exposure screenings.
PALB2
Tumour suppressor gene that interacts with BRCA
Which cancers can Lynch syndrome cause?
bowel
endometrial
ovarian
GI
prostate
Genes that causes Lynch syndrome
MLH1
MSH2
MSH6
PMS2
EPCAM
Lynch syndrome management
2-yearly colonoscopy from the age of 25/35
- asprin
- h. pylori
- hysterectomy
Table screenshot
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