Hereditary Cancer Risk/Genetic Counseling

Question 1

Describe the patterns of cancer in order of most common to least common

Answer 1

• sporadic (70-80%): happens by chance
• familial (15-20%): a few family members have/had cancer but no strong hereditary link
• hereditary (5-10%): inherited gene variant passed on, in every generation

Question 2

Which form of cancer pattern presents with malignant-potential cells at birth

Answer 2

Hereditary

Question 3

Describe the “red flags” for when to refer to genetic counseling

Answer 3

- early cancer
- multiple cancers (relatives, primary/bilateral, generations)
- rare cancers
- known mutations, abnormal pathology, DTC findings, certain ancestries

Question 4

What are the major benefits of genetic testing in regard to cancer

Answer 4

• potential for more accurate picture of cancer risk
• management decision making
• ability to be proactive

Question 5

Which genetic test results indicate a positive result leading to medical management

Answer 5

• pathogenic mutation
• variant likely pathogenic

Question 6

Describe germline vs somatic mutations

Answer 6

GERMLINE
- genes you were born with
- hereditary
- strong fam hx of cancer
- cancer risks
- targeted therapy options
- blood/saliva tested

SOMATIC
- acquired genetic mutations
- not hereditary
- no specific patterns in family
- targeted therapy options
- sample of tumor tested

Question 7

What is found in the tumor (tumor testing = _____ + ______)

Answer 7

Germline + somatic mutations

Question 8

Describe the 3 types of genetic testing services

Answer 8

• direct to consumer: commercial, self pay, no clinician involved, genotypes for particular variants
• patient initiated testing: still commercial, clinician involved, may be covered by insurance
• provider initiated testing: clinical, diagnostic, usually covered by insurance.