Hereditary ovarian cancer in Poland

Abstract

There is increasing evidence that hereditary factors play a greater role in ovarian cancer than in any of the other common cancers of adulthood. This is attributable, to a large extent, to a high frequency of mutations in the BRCA1 or BRCA2 genes. In Poland, 3 common founder mutations in BRCA1 account for the majority of families with identified BRCA mutations. Our study was conducted in order to estimate the prevalence of any of 3 founder BRCA1 mutations (5382insC, C61G and 4153delA) in 364 unselected women with ovarian cancer, and among 177 women with ovarian cancer and a family history of breast or ovarian cancer. A mutation was identified in 49 out of 364 unselected women with ovarian cancer (13.5%) and in 58 of 177 women with familial ovarian cancer (32.8%). The majority of women with ovarian cancer and a BRCA1 mutation have no family history of breast or ovarian cancer. The high frequency of BRCA1 mutations in Polish women with ovarian cancer supports the recommendation that all Polish women with ovarian cancer should be offered testing for genetic susceptibility, and that counseling services be made available to them and to their relatives. It is important that mutation surveys be conducted in other countries prior to the introduction of national genetic screening programs.

BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients

“…BRCA1 and BRCA2 germline mutations were detected in 33% (13/40) of the epithelial ovarian cancer patients with a strong family history. Our results are consistent with the previous reports (de la Hoya et al 2002;Martin et al 2001;Meindl 2002;Menkiszak et al 2003;Rashid et al 2006;Sekine et al 2001) involving other ethnicities (Table 5).…”

“…This result is also consistent with Wndings involving other ethnicities (Boyd et al 2000;Khoo et al 2000;Lee et al 2006;Menkiszak et al 2003;Modan et al 2001;Moslehi et al 2000;Pal et al 2005;Risch et al 2001Risch et al , 2006Sarantaus et al 2001;Tobias et al 2000;Tonin et al 1999;Van Der Looij et al 2000) ( Table 6). Kim et al (2005) has reported that the germline mutation rate in BRCA was 2.7% in 37 sporadic ovarian (Kim et al 2005) and our study might result in selection bias.…”

A protein truncating BRCA1 allele with a low penetrance of breast cancer

“…The ovarian cancer patients were from two hospitals in Szczecin, Poland, and have been described previously. 5 The control population consisted of 1000 newborn children from throughout Poland and 1000 adults unaffected with cancer from the practices of family physicans in Szczecin.The distribution of mutations is shown in table 1. The 4153delA allele is under-represented among breast cancer patients in this distribution and the ratio of breast to ovarian cancers with this mutation is atypical.…”

“…The ovarian cancer patients were from two hospitals in Szczecin, Poland, and have been described previously. 5 The control population consisted of 1000 newborn children from throughout Poland and 1000 adults unaffected with cancer from the practices of family physicans in Szczecin.…”

“…3 Since 1999, we have tested large numbers of unselected cancer patients and cancer families throughout Poland. [3][4][5] To estimate the prevalences and relative risks associated with each of the three founder mutations, we genotyped 2012 unselected cases of breast cancer, 364 unselected cases of ovarian cancer, and 2000 population controls. The breast cancer patients were consecutively diagnosed from eight hospitals throughout Poland.…”