Prevalence of founderBRCA1 andBRCA2 mutations among breast and ovarian cancer patients in hungary

Abstract

We have investigated the impact of BRCA1 and BRCA2 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 (6174delT 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. Int. J. Cancer 86:737–740, 2000. © 2000 Wiley‐Liss, Inc.

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

“…5 In the isolated Icelandic population, one strong BRCA2 founder mutation was present in 7.9% (3/38) of ovarian carcinomas, 15 and in Hungary, three BRCA1 founder mutations accounted for 11.1% (10/90) of unselected ovarian carcinoma patients, whereas none of the patients carried either of the two BRCA2 founder mutations known in the Hungarian population. 13 The frequencies of BRCA1 (4.7%) and BRCA2 (0.9%) the mutations in Finland are more similar to those reported in the UK and the US. 9 ± 12,14,17 In the screening for BRCA1 mutations, 1.9 ± 3.9% of unselected ovarian carcinoma patients were found to be mutation-positive in California and North Carolina.…”

Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital‐based screening

“…[43][44][45] From data presented in the current study, BRCA1 and BRCA2 mutations seem to have little or no role in predisposition to carcinoma; 2 families (6%) were positive for BRCA1/2 germline mutations among 36 genomic DNA samples from families with recurrent breast and prostate carcinomas. Conversely, the association between breast carcinoma and ovarian carcinoma or male breast carcinoma was the most impor- 13 Hungary, 21 and the Ashkenazi Jewish population. 6,7,41 Generally, men with breast carcinoma present with more advanced disease and a poorer prognosis, 46 and assessment of their BRCA2 mutation status may be useful for risk assessment and breast carcinoma prevention in such families.…”

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

“…16,17 Ancestry-informed testing of a few common BRCA1/2 mutations has been proposed as a cost-effective approach in a number of populations including Ashkenazi Jews. [18][19][20][21][22][23][24][25] Diagnosing BRCA mutations triggers preventive measures in relatives, which contributes to the value of such screening approaches. 21 The identification of a prevalent founder mutation in a very specific part of the Tyrol may facilitate a long-term study to examine the true sensitivity, usefulness, and cost-effectiveness of routine testing of breast or ovarian cancer patients without any selection based on established HBOC criteria.…”