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BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines

Matsuda, MLD; Liede, A; Kwan, E; Mapua, CA; Cutiongco, EMC; Borg, Åke LU and Narod, SA (2002) In International Journal of Cancer 98(4). p.596-603
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
unselected, Asia, breast cancer, Philippines, BRCA1, BRCA21
in
International Journal of Cancer
volume
98
issue
4
pages
596 - 603
publisher
John Wiley & Sons
external identifiers
  • wos:000174171800016
  • scopus:0036533601
ISSN
0020-7136
DOI
10.1002/ijc.10194
language
English
LU publication?
yes
id
ce83fab6-6999-4019-a044-471504c5cfe4 (old id 342580)
date added to LUP
2007-11-02 11:28:53
date last changed
2017-11-05 03:30:09
@article{ce83fab6-6999-4019-a044-471504c5cfe4,
  abstract     = {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 &lt;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.},
  author       = {Matsuda, MLD and Liede, A and Kwan, E and Mapua, CA and Cutiongco, EMC and Borg, Åke and Narod, SA},
  issn         = {0020-7136},
  keyword      = {unselected,Asia,breast cancer,Philippines,BRCA1,BRCA21},
  language     = {eng},
  number       = {4},
  pages        = {596--603},
  publisher    = {John Wiley & Sons},
  series       = {International Journal of Cancer},
  title        = {BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines},
  url          = {http://dx.doi.org/10.1002/ijc.10194},
  volume       = {98},
  year         = {2002},
}