Familial Cancer

, Volume 1, Issue 2, pp 65-72

First online:

Familial breast cancer: an investigation into the outcome of treatment for early stage disease

  • Diana EcclesAffiliated withDepartment of Human Genetics, Southampton University Hospitals NHS Trust
  • , Peter SimmondsAffiliated withCRC Wessex Medical Oncology Unit, Southampton University Hospitals NHS Trust
  • , Jonathan GoddardAffiliated withHealth Care Research Unit, University of Southampton
  • , Marie CoultasAffiliated withDepartment of Human Genetics, Southampton University Hospitals NHS Trust
  • , Shirley HodgsonAffiliated withGuy's Hospital
  • , Fiona LallooAffiliated withRegional Genetics Service, St Mary's Hospital
  • , Gareth EvansAffiliated withRegional Genetics Service, St Mary's Hospital
  • , Neva HaitesAffiliated withMedical School, University of Aberdeen

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The purpose of this study was to retrospectively compare the outcomes of treatment in 304 women with familial and sporadic breast cancer to clarify the options for the primary management of familial breast cancer. The majority of women were consecutively ascertained on the basis of either breast cancer diagnosed at age < 40 years or bilateral breast cancer. In addition, known BRCA1 mutation carriers were identified through the genetics services in participating centres. These patients were subdivided into those with a significant family history of breast cancer or known BRCA1 mutation (FH+) and those with no significant family history (FH−). There were no significant differences in age, surgical treatment or adjuvant treatment between the two groups, but there were significantly more women whose nodal status was unknown in the FH+ group. Ipsilateral recurrence occurred in 22.2% of FH+ patients compared with 24.1% of FH− patients (p = 0.774) who underwent breast conserving surgery. There was a striking excess of contralateral breast cancers in the FH+ group (35.9% v 16%, p = 0.0007), with a cumulative risk of contralateral cancer of 36% at 10 years. This was reflected in a non-significant trend toward worse relapse free survival in the FH+ group (p = 0.0563), but no difference was observed in overall survival between the two patient groups (p = 0.142). Similarly, for patients with known BRCA1 mutations, contralateral recurrence occurred more frequently, but other outcomes were not significantly different from the FH− group. Breast conserving treatment is not associated with an increased risk of local recurrence in women with familial breast cancer and the prognosis of these women appears to be similar to that of young women with apparently sporadic breast cancer. However, the risk of contralateral breast cancer is significant in the FH+ group and should be considered in planning primary treatment and follow up.

BRCA1 breast cancer familial recurrence survival