Genetic Counselling

Question 1

The BRCA1 and BRCA2 genes are responsible for which 2 cancers?

Answer 1

Breast cancer. Ovarian cancer.

Question 2

State 3 genes linked to breast and ovarian cancer.

Answer 2

ERBB2 gene (increases human epidermal factors - increase cell growth). BRCA1 gene. BRCA2 gene. PALB2 gene. CHEK2 gene - mutation inhibits tumour suppression. TP53 gene.

Question 3

State a hereditary colorectal cancer syndrome.

Answer 3

Lynch syndrome - hereditary non-polyposis colorectal cancer. Familial adenomatous polyposis (FAP).

Question 4

What are colonic polyps?

Answer 4

Abnormal tissue growths in the colon - can be neoplastic adenomatous polyps (cancerous) or non-neoplastic polyps (non-cancerous).

Question 5

State 3 factors which can increase the malignancy of cancer.

Answer 5

Number (more than 5 warrants under investigation). Size. Shape. Histological classification (villous type and highly dysplastic polyps (containing abnormal cells/abnormal development)). Age when detected. Family history.

Question 6

State 2 genes associated with Lynch syndrome.

Answer 6

MLH1. MSH2. MSH6. PMS2.

Question 7

State a gene associated with familial adenomatous polyposis.

Answer 7

APC gene.

Question 8

State 2 features of familial adenomatous polyposis.

Answer 8

Gastric/duodenal polyps. Dental anomalies. Osteomas (new piece of bone growing on another piece of bone). Soft tissue. Congenital hypertrophy of retinal pigment epithelium.

Question 9

State 2 aspects of the risk assessment.

Answer 9

The condition - pattern of inheritance, penetrance. The patient - presentation, family history. Guidance - NICE guidelines, multidisciplinary team.

Question 10

What does sporadic mean?

Answer 10

Occurring at irregular intervals or only in a few places; scattered or isolated.