Regular Article

British Journal of Cancer (2000) 82, 568–570. doi:10.1054/bjoc.1999.0965 www.bjcancer.com
Published online 7 January 2000

Lobular carcinoma in situ of the breast is not caused by constitutional mutations in the E-cadherin gene

N Rahman1,*, J G Stone1,*, G Coleman1, B Gusterson2, S Seal1, A Marossy1, S R Lakhani1,†, A Ward2, A Nash3, A McKinna3, R A'Hern4, M R Stratton1 and R S Houlston1

  1. 1Section of Cancer Genetics, Sutton, SM2 5NG, UK
  2. 2Section of Cell Biology and Experimental Pathology, Institute of Cancer Research, Sutton, SM2 5NG, UK
  3. 3Breast Unit, Sutton, SM2 5NG, UK
  4. 4Department of Computing, Royal Mardsen Hospital, Sutton, SM2 5NG, UK

*Contributed equally.

†Present address: Department of Histopathology, University College, London.

Received 3 December 1998; Revised 26 May 1999; Accepted 22 July 1999.

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Abstract

Lobular carcinoma in situ (LCIS) is an unusual histological pattern of non-invasive neoplastic disease of the breast occurring predominantly in women aged between 40 and 50 years. LCIS is frequently multicentric and bilateral, and there is evidence that it is associated with an elevated familial risk of breast cancer. Although women with LCIS suffer an increased risk of invasive breast disease, this risk is moderate suggesting that LCIS may result from mutation of a gene or genes conferring a high risk of LCIS, but a lower risk of invasive breast cancer. The high frequency of somatic mutations in E-cadherin in LCIS, coupled with recent reports that germline mutations in this gene can predispose to diffuse gastric cancer, raised the possibility that constitutional E-cadherin mutations may confer susceptibility to LCIS. In order to explore this possibility we have examined a series of 65 LCIS patients for germline E-cadherin mutations. Four polymorphisms were detected but no pathogenic mutations were identified. The results indicate that E-cadherin is unlikely to act as a susceptibility gene for LCIS. © 2000 Cancer Research Campaign

Keywords:

LCIS, germline, E-cadherin mutations

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