What is the role of genetics in the development of pediatric breast disorders?

Updated: May 03, 2021
  • Author: Harsh Grewal, MD, FACS, FAAP; Chief Editor: Robert K Minkes, MD, PhD  more...
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Only 5% of all breast cancer patients have true hereditary breast cancer. Families with hereditary breast cancer have the following characteristics:

  • Early onset of breast cancer - Usually before age 45 years
  • Increased incidence of bilateral breast cancer
  • Autosomal dominant inheritance for breast cancer
  • Greater frequency of multiple primary cancers

Adolescents of a parent with hereditary breast cancer have a 50% chance of inheriting the causative gene. Current recommendations suggest that mature young women consider genetic testing for the purposes of family and life planning. [32] However, because few proven early interventions are available, genetic testing may be delayed until childbearing is complete or until age 35 years or older.

Two breast cancer susceptibility genes have been mapped. BRCA1 has linkage with breast, ovarian, and prostate cancers. The BRCA1 gene confers an 83% breast cancer risk and a 63% ovarian cancer risk by age 70 years. BRCA2 has linkage with male and female breast cancers. Overall, the lifetime risk of development of breast cancer in known BRCA1 and BRCA2 carriers is 60%-80%. [33, 34]

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