Breast and Ovarian Cancer Families with BRCA Mutations
Author Information
Author(s): Ligtenberg M J L, Hogervorst F B L, Willems H W, Arts P J W, Brink G, Hageman S, Bosgoed E A J, Looij E Van der, Rookus M A, Devilee P, Vos E M A W, Wigbout G, Struycken P M, Menko F H, Rutgers E J Th, Hoefsloot E H, Mariman E C M, Brunner H G, Veer L J Van't
Primary Institution: Department of Human Genetics, University Hospital Nijmegen
Hypothesis
Can we predict genetic predisposition to breast and ovarian cancer in families with few cases?
Conclusion
Small families with at least one case of ovarian cancer or early-onset breast cancer should be screened for BRCA mutations.
Supporting Evidence
- 30% of families tested had mutations in BRCA1 or BRCA2.
- 60% of families with both breast and ovarian cancer had mutations.
- 20% of families with only breast cancer had mutations.
- A case of ovarian cancer strongly predicted finding a mutation.
- Bilateral breast cancer or early-onset breast cancer predicted mutations in small families.
Takeaway
If a family has a few cases of breast or ovarian cancer, they might still have a gene that increases cancer risk, so it's important to check for it.
Methodology
Mutation analysis was performed in families seeking counseling at cancer clinics using protein truncation tests and mutation-specific assays.
Participant Demographics
Families with three or more affected individuals, average of 3.8.
Statistical Information
P-Value
p<0.001, p=0.005, p=0.02
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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