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Clinical Study
Childhood Cancer in Families with and without BRCA1 or BRCA2 Mutations Ascertained at a High-Risk Breast Cancer Clinic
Gabriel A. Brooks, Jill E. Stopfer, Julie Erlichman, Rebecca Davidson, Katherine L. Nathanson and Susan M. Domchek
volume 5 | issue 9
september 2006Pages: 1098 - 1102
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BACKGROUND: Germline mutations in the BRCA1 and BRCA2 genes are associated with breast cancer, ovarian cancer and other malignancies. Biallelic mutations of BRCA2 are a cause of Fanconi anemia and characteristic childhood cancers. We undertook this study to evaluate the contribution of familial BRCA mutations to childhood cancer in hereditary breast cancer families.
PATIENTS AND METHODS: We compared the prevalence of childhood cancers in 379 families with BRCA1 or BRCA2 mutations and 426 families without mutations. All families were ascertained at a high-risk breast cancer clinic. Our study included first- through fourth-degree relatives of BRCA mutation carriers and cancer-affected individuals with negative testing for BRCA mutations. The primary endpoint was any case of childhood cancer (diagnosed
CONCLUSIONS: In this retrospective analysis, heterozygous BRCA1 and BRCA2 mutations were not a risk factor for childhood cancer in hereditary breast cancer families. These data support the current practice of delaying BRCA mutation testing until adulthood.
We now provide open access to journal articles published online for one year or more. This article may be downloaded at the following link:
Download PDFIf the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.