Inherited Cancer Part Two

Question 1

Patient groups likely to ask about cancer predisposition risk:

Answer 1

1) . People who present in primary care because of concerns about a family history.
2) . Affected patients concerned about the risk to siblings and offspring.

Question 2

Why do we need to work to clinical risk guidelines with cancer risk estimation etc.

Answer 2

• Need to be uniform in the way we deal with people.
• GCP to give same answers as colleagues.
• Some families will fall into multiple catchments areas for genetics clinics and need to make sure we are giving the same information in both. Want to give the same advice to people anywhere in the country.
• Protocols not totally fixed but need to be using some evidence based approach that results in equitable treatment.

Question 3

Generally speaking what approach do we take to assessing families in line with cancer risk guidelines for breast cancer?

Answer 3

• Want to divide families into low, moderate, and high risk groups.
• Low risk = less than 2 x population lifetime risk of breast cancer - don’t need any surveillance.
• Moderate risk = 2-3 x population lifetime risk of breast cancer - Surveillance indicated - take place in district general hospital - secondary care
• High risk = greater than 3 x population lifetime risk of breast cancer - more surveillance - will be referred on for genetic testing if appropriate.
• Assign risk category according to number of relatives and age of onset.

Question 4

What are the key steps taken when assessing a family for inherited cancer risk and classifying them into risk groups?

Answer 4

• Need to make sure you have the correct information and a complete family pedigree.
• The exact pedigree structure is important.
• Confirming cancers is important - especially for abdominal or gynaecological cancers - up to 20% of family reports are wrong according to studies.
• The number of affected and unaffected individuals is important - families may only tell you about affected relatives.
• The tumour types (histology) are important.
• Even though a family history may look ‘genetic’ the chance of finding a mutation in one of the known genes may be low.

Question 5

What are the key feature you are looking for when assessing a family that may indicate familial cancer predisposition?

Answer 5

• Early onset tumours.
• Multiple tumours in close relatives.
• Multiple tumours within an individual.
• Clusters of different tumours in recognisable patterns.

Question 6

What is the cutoff age for extra screening when you have one family member with breast cancer?

Answer 6

• The family member must have had breast cancer under the age of 40 years.

Question 7

What might the presence of Soft Tissue Sarcoma and Adreno-cortical carcinoma in the sam family indicate?

Answer 7

• The presence of a germline P53 mutation in the family.

Question 8

Generally speaking what approach do we take to assessing families in line with cancer risk guidelines for bowel cancer?

Answer 8

• Want to divide families into low, moderate, and high risk groups.
• Low risk = less than 1 in 10 risk of bowel cancer - don’t need any surveillance.
• Moderate risk = 1 in 6 - 1 in 10 risk of bowel cancer - Surveillance indicated - take place in district general hospital - secondary care
• High risk = greater than 1 in 6 risk of bowel cancer - more surveillance - will be referred on for genetic testing if appropriate.
• Count relatives, check ages - remember endometrial, ovarian, urinary tract cancers are also of relevance in deciding what hereditary CRC syndrome to test for.