Familial Breast Cancer: Detection of Prevalent High-Risk Epithelial Lesions

  • Peter Bult
  • Nicoline Hoogerbrugge
Part of the Methods of Cancer Diagnosis, Therapy and Prognosis book series (HAYAT, volume 1)

BRCA1 and BRCA2 mutation carriership is associated with a highly increased risk of developing breast carcinoma. For women carrying a BRCA mutation, the risk of breast cancer begins to increase before the age of 25, with a steep increase after the age of 40 years. The cumulative risk of developing breast cancer before the age of 40 years is ∼ 15%, while the cumulative risk of developing breast cancer before the age of 50 is 40–50% (Ford et al., 1998). The life time risk of invasive breast cancer is 60–80%. Very little is known regarding the early stages of breast cancer development in the inherited forms of the disease. Women with hereditary predisposition to breast cancer are prone to develop epithelial lesions that indicate a high risk of subsequent invasive breast cancer (Dupont and Page, 1985; Hoogerbrugge et al., 2003). These high-risk lesions include atypical lobular hyperplasia (ALH), atypical ductal hyperplasia (ADH), lobular carcinoma in situ (LCIS), and ductal carcinoma in situ (DCIS) (Kauff et al., 2003). These epithelial lesions may predict the occurrence of subsequent invasive breast cancer (Singletary, 1994).


Breast Cancer Contralateral Prophylactic Mastectomy Atypical Ductal Hyperplasia Prophylactic Mastectomy Familial Breast Cancer 
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Copyright information

© Springer Science + Business Media B.V. 2008

Authors and Affiliations

  • Peter Bult
    • 1
  • Nicoline Hoogerbrugge
    • 1
  1. 1.849 Human GeneticsHB NijmegenThe Netherlands

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