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Germline E-cadherin mutations in familial lobular breast cancer

In English

Författare

  • S. Masciari
  • Nina Larsson
  • J. Senz
  • N. Boyd
  • P. Kaurah
  • M. J. Kandel
  • L. N. Harris
  • H. C. Pinheiro
  • A. Troussard
  • P. Miron
  • N. Tung
  • C. Oliveira
  • L. Collins
  • S. Schnitt
  • J. E. Garber
  • D. Huntsman
Visa allt

Summary, in English

Background: The cell surface glycoprotein E-cadherin (CDH1) is a key regulator of adhesive properties in epithelial cells. Germline mutations in CDH1 are well established as the defects underlying hereditary diffuse gastric cancer (HDGC) syndrome, and an increased risk of lobular breast cancer (LBC) has been described in HDGC kindreds. However, germline CDH1 mutations have not been described in patients with LBC in non-HDGC families. This study aimed to investigate the frequency of germline CDH1 mutations in patients with LBC with early onset disease or family histories of breast cancer without DGC. Methods: Germline DNA was analysed in 23 women with invasive lobular or mixed ductal and lobular breast cancers who had at least one close relative with breast cancer or had themselves been diagnosed before the age of 45 years, had tested negative for a germline BRCA1 or BRCA2 mutation, and reported no personal or family history of diffuse gastric cancer. The full coding sequence of CDH1 including splice junctions was amplified using PCR and screened for mutations using DHPLC and sequencing. Results: A novel germline CDH1 truncating mutation in the extracellular portion of the protein (517insA) was identified in one woman who had LBC at the age of 42 years and a first degree relative with invasive LBC. Conclusions: Germline CDH1 mutations can be associated with invasive LBC in the absence of diffuse gastric cancer. The finding, if confirmed, may have implications for management of individuals at risk for this breast cancer subtype. Clarification of the cancer risks in the syndrome is essential.

Publiceringsår

2007

Språk

Engelska

Sidor

726-731

Publikation/Tidskrift/Serie

Journal of Medical Genetics

Volym

44

Issue

11

Dokumenttyp

Artikel i tidskrift

Förlag

BMJ Publishing Group

Ämne

  • Medical Genetics

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 0022-2593