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One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations : results of a prospective study in Southern Sweden

Author:
  • S Malander
  • M Ridderheim
  • A Måsbäck
  • N Loman
  • U Kristoffersson
  • Håkan Olsson
  • M Nilbert
  • Åke Borg
Publishing year: 2004-02
Language: English
Pages: 422-428
Publication/Series: European Journal of Cancer
Volume: 40
Issue: 3
Document type: Journal article
Publisher: IFAC & Elsevier Ltd.

Abstract english

At least 10% of all ovarian cancers are estimated to have a hereditary background. Hereditary breast-ovarian cancer (HBOC) due to mutations in the BRCA genes is a major cause of hereditary ovarian cancer, although its frequency and relationship to age and family history in unselected series of ovarian cancers is not completely known. We report here the results of a full mutational screening analysis for germ line BRCA1 and BRCA2 mutations in 161 patients with invasive epithelial ovarian carcinomas. Age at diagnosis ranged from 22 to 82 years (mean 59 years). Deleterious (frame-shift, nonsense and missense) mutations were detected in 13/161 (8%) of the patients and affected BRCA1 in 12 cases and BRCA2 in one case. Four additional missense variants (one in BRCA1 and three in BRCA2) with a possible association with an increased risk ovarian cancer were revealed, resulting in a total frequency of BRCA gene alterations of 17/161 (11%). The 13 patients with deleterious mutations had a mean age of 57 years (range 41-76 years) and only three of these patients were below 50 years of age. A family history of at least one breast cancer and/or ovarian cancer was reported in all but 1 of the patients with BRCA mutations compared with only 24% of patients without mutations. Our findings in this prospective study confirm approximately 1 in 10 patients with ovarian cancer carry a germ line BRCA gene mutation associated with HBOC, and also indicate that a large number of these patients are over 50 years of age at diagnosis.

Keywords

  • Cancer and Oncology
  • Adult
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Humans
  • Middle Aged
  • Mutation
  • Mutation, Missense
  • Ovarian Neoplasms
  • Prospective Studies
  • Sweden

Other

Published
  • Lund Melanoma Study Group
  • Familial Breast Cancer
  • ISSN: 1879-0852
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2

90

Project manager

Familial Breast Cancer

90

Professor

Oncology and Pathology, MV

MV 404 C21C2

90