The pathology of familial breast cancer: Clinical and genetic counselling implications of breast cancer pathology

F. Lalloo, D. G R Evans

Research output: Contribution to journalArticlepeer-review

Abstract

Approximately 5% of all breast cancers are due to one of the high-risk breast cancer genes BRCA1 and BRCA2, or possibly to a third or fourth moderate- to high-risk gene(s). A further proportion of cases arise in the presence of a less striking family history, with later average age at onset and lower penetrance: familial breast cancer. Bilaterality is a recognized feature of hereditary breast cancer. Cancers often present at an early age, with the contralateral risk high within 10 years. Proof that bilateral malignancies are separate primaries can be difficult histologically, however, especially within 3 years. The recent finding of specific pathological features related to BRCA1 and, to a lesser extent, BRCA2 mutations means that, in addition to bilaterality and family history, a pathological element can be entered into the risk calculation for the presence of BRCA1/BRCA2 mutations. This will facilitate the targeting of mutation testing to families in which a positive result is most likely, and may subsequently influence the clinical management of these families.

Original languageEnglish
Pages (from-to)48-51
Number of pages4
JournalBreast Cancer Research
Volume1
Issue number1
DOIs
Publication statusPublished - 1 Dec 1999

Keywords

  • BRCA1
  • BRCA2
  • Genetic testing
  • Ovarian cancer
  • Prophylactic mastectomy

Fingerprint

Dive into the research topics of 'The pathology of familial breast cancer: Clinical and genetic counselling implications of breast cancer pathology'. Together they form a unique fingerprint.

Cite this