Defining BRCA Mutation Status in Women with Limited Family Structures

In women with few first- and second-degree relatives, determining whether genetic testing is appropriate can be difficult.

Family histories, including age at breast cancer diagnoses among close relatives, are very important in identifying women who should be screened for BRCA mutations. Researchers have speculated that, in young women with limited family structures (i.e., fewer than two women who survived past age 45 in either parental lineage), the genetic models that are used to predict carrier status would underestimate the prevalence of BRCA mutations. A new study of this hypothesis was conducted from 1997 to 2007 at City of Hope Cancer Screening & Prevention Program Network clinics for genetic cancer risk assessment. Three hundred six women in whom breast cancer was diagnosed before age 50 and without family histories of breast cancer were enrolled; 153 (5…

Reviewing Author

Virginia Kaklamani, MD, DSc

Defining BRCA Mutation Status in Women with Limited Family Structures

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Reviewing Author