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BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines

Author:
  • MLD Matsuda
  • A Liede
  • E Kwan
  • CA Mapua
  • EMC Cutiongco
  • Åke Borg
  • SA Narod
Publishing year: 2002
Language: English
Pages: 596-603
Publication/Series: International Journal of Cancer
Volume: 98
Issue: 4
Document type: Journal article
Publisher: John Wiley & Sons

Abstract english

Age-adjusted incidence rates of breast cancer vary more than 10-fold worldwide, with the highest rates reported in North America and Europe. The highest breast cancer incidence rates in Southeast Asia have been reported for the Manila Cancer Registry in the Philippines, with an age-standardized rate of 47.7 per 100,000 per year. The possible contribution of hereditary factors to these elevated rates has not been investigated. We conducted a case-control study of 294 unselected incident breast cancer cases and 346 female controls from Manila, Philippines. Cases and controls were selected from women below the age of 65 undergoing evaluation at the PGH in Manila because of a suspicious breast mass. Molecular analysis identified 12 BRCA2 mutations and 3 BRCA1 mutations. We estimate the prevalence of BRCA mutations among unselected breast cancer cases in the Philippines to be 5.1% (95% Cl: 2.6-7.6%), with a prevalence of 4.1% (95% Cl: 1.8-6.4%) for BRCA2 mutations alone. The BRCA2 4265delCT and 4859delA mutations were found in 2 and 4 unrelated cases, respectively; haplotype analysis confirmed that these, and the BRCA1 5454delC mutation, are founder mutations. BRCA2 mutations were also found in 2 of 346 controls (0.6%; 95% Cl: 0.2-1.4%). Compared with non-carrier cases, the cumulative risk of breast cancer for first-degree relatives of mutation carriers was 24.3% to age 50, compared with <4% for first-degree relatives of non-carrier cases (RR = 6.6; 95% Cl: 2.6-17.2; p = 7.5 X 10(-6)). Our data suggest that penetrance of BRCA mutations is not reduced in the Philippines. Germline mutations in the BRCA2 gene contribute more than mutations BRCA1 to breast cancer in the Philippines, due in large part to the presence of 2 common founder mutations.

Keywords

  • Cancer and Oncology
  • unselected
  • Asia
  • breast cancer
  • Philippines
  • BRCA1
  • BRCA21

Other

Published
  • ISSN: 0020-7136
Åke Borg
Åke Borg
E-mail: ake.borg [at] med.lu.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