Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary

Marco Van Der Looij, Csilla Szabo, Istvan Besznyak, Gyorgy Liszka, Bela Csokay, Tamas Pulay, Jozsef Toth, Peter Devilee, Mary Claire King, Edith Olah

Research output: Contribution to journalArticle

85 Citations (Scopus)


We have investigated the impact of BRACR1 and BRACR2 mutations that were frequently identified among Hungarian high-risk breast-ovarian cancer families (Ramus et al., 1997b, AJHG), on the development of breast and ovarian cancer in the general Hungarian population. The prevalence of 3 BRCA1 mutations (185delAG, 300T→G and 5382insC) and 2 BRCA2 mutations (614delT and 9326insA) was evaluated in a hospital-based consecutive series of 500 female breast cancer patients and 90 ovarian cancer patients, not selected for age at diagnosis or family history of cancer, as well as in 350 controls. Among breast cancer patients, 3.6% (18/500) carried a founder mutation: 9 BRCA1 300T→G, 7 BRCA1 5382insC, 1 BRCA1 185delAG and 1 BRCA2 9326insA. Among ovarian cancer patients, 11% (10/90) carried a founder mutation: 5 BRCA1 185delAG, 4 BRCA1 300T→G and 1 BRCA1 5382insC. One control carried a mutation, BRCA1 5382insC. Inherited breast cancer was more frequent among women with younger age at diagnosis: 6.1% of women younger than age 50 but 2.4% of women diagnosed at age 50 or older carried one of the founder mutations. There was no association between mutation status and age at diagnosis of ovarian cancer. Three of 23 medullary breast cancers were inherited (p = 0.038). Carrier status was also associated with a non- significant trend toward advanced tumor stage at diagnosis. These mutations could be evaluated among all ovarian cancer patients and breast cancer patients younger than age 60 and of Hungarian ancestry. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)737-740
Number of pages4
JournalInternational Journal of Cancer
Issue number5
Publication statusPublished - May 19 2000

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Fingerprint Dive into the research topics of 'Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary'. Together they form a unique fingerprint.

  • Cite this