Familial Cancer

Question 1

What are the features of familial breast cancer?

Answer 1

• Breast cancer
• Ovarian cancer
• AD
• BRCA1 (double stranded break repair of DNA)
• BRCA2 (double stranded break repair of DNA)

Question 2

What are the features of HNPCC?

Answer 2

• Colorectal cancer
• Endometrial, ovarian, hepato-biliary and urinary tract cancer
• AD
• MSH2 (DNAMMR)
• MLH1 (DNAMMR)

Question 3

What are the features of MAP?

Answer 3

• Colorectal cancer
• Intestinal polyposis
• AR
• MUTYH (DNA glycosylase required for base excision repair)

Question 4

What are the features of FAP?

Answer 4

• Colorectal cancer
• Intestinal polyposis, duodenal tumours, desmoid tumours, jaw osteomas and medulloblastoma
• AD
• APC (regulation of level of transcriptional activator, beta-catenin)

Question 5

What are the features of NF1?

Answer 5

• Neurofibromas
• Neurofibrosarcoma, brain tumours
• AD
• NF1 (GTPase activating protein, negatively regulating RAS proteins)

Question 6

What are the features of multiple endocrine neoplasia type 1?

Answer 6

• MEN1
• Parathyroid hyperplasia, pituitary adenomas, pancreatic islet cell tumours
• AD
• MEN1 (probable roles in transcriptional regulation, genome stability and proliferation)

Question 7

What are the features of multiple endocrine neoplasia type 2?

Answer 7

• MEN2
• Medullary thyroid cancer
• AD
• RET proto-oncogene (receptor tyrosine kinase)

Question 8

What are the features of NF2?

Answer 8

• Acoustic neuromas
• Meningioma, gliomas and ependymomas
• AD
• NF2 (links cell membrane proteins to cytoskeleton)