Hereditary cancer syndromes Flashcards
What genes can cause breast cancer?
BRCA1/2
Tumour suppressor genes
When should someone be referred for BRCA testing?
- 1st degree relative:
- <40 years and breast cancer
- male breast cancer
- <50 years and bilateral breast cancer - 2 x 1st and 2nd degree relatives with breast/ovarian cancer
- 3x 1st and 2nd degree relatives with breast cancer
- Ashkenazi ancestry, sarcoma /,45, multiple cancers at a young age
What is the management/prophylaxis for patients with the BRCA1/2 gene?
Annual MRI (30-49) and mammograms (50-69)
Prophylactic tamoxifen/raloxifene
Mastectomy/oopherectomy
When should someone be tested for lynch syndrome?
3 affected relatives (colon cancer)
- one 1st generation
- 2 successive generations
- one <50
What gene is mutated in lynch syndrome?
Mismatch repair genes
Autosomal dominant
80% chance of colon cancer
What is the management/prophylaxis for patients with lynch syndrome?
Colonoscopy every 2 years (25-75)
What gene is mutated in FAP?
APC gene
Tumour suppressor
Penetrance 100% by 50 years
What is the management/prophylaxis for patients with FAP?
Surveillance sigmoidoscopy from 12 years Prophylactic surgery (before 25 years) depending on polyp size, number and dysplasia
What cancer is Peutz-Jeghers associated with?
Colon 10-20%
GI 50-60%
Breast 60%
What gene is mutated in Peutz-Jeghers?
STK11 gene
Tumour suppressor
What is the management/prophylaxis for patients with Peutz-Jeghers?
Colonoscopy every 3 years (from 18)
Endoscopy every 3 years (from 25)
What gene mutations are associated with prostate cancer?
BRCA1/2
Mismatch repair
HOXB13 - interacts with androgen receptor
What cancer are people with Von Hippel-Lindau syndrome predisposed to?
Clear cell renal carcinoma
Phaeochromocytoma
What type of gene is MEN1?
Tumour suppressor
What does the MEN1 gene cause?
Parathyroid hyperplasia/adenoma
Pancreas endocrine tumours
Pituiatry prolactinoma/GH secreting tumour
What type of gene is MEN2?
ret proto-oncogene
What does the MEN2a gene cause?
Medullary thyroid carcinoma
Phaeochromocytoma
Parathyroid hyperplasia
What does the MEN2b gene cause?
Medullary thyroid carcinoma
Phaeochromocytoma
Mucosal neuromas
Marfanism
How is MEN2 managed?
Prophylactic thyroidectomy
What gene is mutated in Li fraumeni?
tP53 - tumour suppressor
What cancers are people with Li fraumeni at risk of developing?
Bone - osteosarcoma Breast Brain Adrenocortical carcinoma Acute leukamia
