Clinical history: 58-year-old lady with a history of uterine cancer at the age of 57 and breast cancer at age 44. She was referred for the BRCA1/2 test due to early-onset breast cancer.
Pretest GC:
During pretest genetic counseling appointment, three-generation family history was taken.
■ Paternal uncle with colon cancer,
■ Paternal aunt with endometrial cancer,
■ Paternal grandmother‘s siblings with gastric cancer.
Genetic Test:
After pre-test GC, the genetic counselor ordered for a DNA Onconex after consultation with doctor and patient due to family history of multiple cancers. Family and personal history was suspected for Lynch syndrome.
Results:
Positive for pathogenic mutations in: BRCA2, c.2979G>T; MSH2 c.366+1G>A
Implications for Results:
■ Surveillance to include for Lynch syndrome and BRCA mutations based on NCCN guidelines
■ Consider prophylactic oophorectomy due to increased risk for ovarian cancer
■ Genetic testing (targeted) to be offered to both daughters & surveillance based on results
■ Familial segregation
Challenges:
limited evidence to know if there is an further increased risk of cancer in families with biallelic inheritance.
Conclusion:
A full family history taking can help in appropriate assessment of risk, in choosing the right genetic testing and surveillance for the family.
