Genetics of cancer

Question 1

What does a BRCA2 mutation in a male predispose them to?

Answer 1

Increased risk of prostate cancer

Question 2

What are the BRCA genes?

Answer 2

They are tumour supressor genes

Question 3

What is the management of a women with an identified BRCA1/2 gene who does not currently have cancer?

Answer 3

Offer annual MRI 30-49 and mammography 50-69

Prophylactic tamoxifen can be used if tolerated

Question 4

What are the three main autosomal dominant colorectal cancer syndromes?

Answer 4

Lynch syndrome - hereditary non polyposis colorectal cancer - increases lifetime risk to 80%
Familial adenomatous polyposis - causes multiple colorectal adenomas
Peutz-Jeghers syndrome - 10-20% risk of cancer

Question 5

What tumour markers may be raised in testicular cancer?

Answer 5

Alpha fetoprotein and human cortiotrophic gonadotrophin

Question 6

What tumour markers may be raised in colorectal cancer?

Answer 6

Carcinoembryonic antigen (CEA)

Question 7

What tumour marker may be raised in ovarian cancer?

Answer 7

Monoclonal antibody CA 125

Question 8

What tumour marker may be raised in thyroid cancer?

Answer 8

Calcitonin - specifically medullary thyroid cancer

Question 9

What tumour marker may be raised in pancreatic cancer?

Answer 9

Monoclonal antibody CA 19-9

Question 10

What tumour arker may be raised in breast cancer?

Answer 10

Monoclone antibody CA 15-3

Question 11

What tumour marker may be raised in myeloma?

Answer 11

Paraproteins

Question 12

What tumour marker may be raised in follicular or papillary thyroid cancer?

Answer 12

Thyroglobulin