Clinical characteristics of cancers in mutation carriers included features of high-risk disease.
A total of 254 BRCA1 mutation carriers including 127 ovarian cancer cases and 127 unaffected controls were included in this study.
Other possible sites of cancer for BRCA1 mutation carriers included cutaneous melanoma, basal cell carcinoma and sarcoma [ 15].
The main analysis included all available mutation carriers, including the Polish BRCA1 mutation carriers used in the previous reports (Jakubowska et al, 2007a; Jakubowska et al, 2007b).
BRCA gene mutation carriers included only those with confirmed deleterious alterations, that is, nonsense or frameshift indel mutations that cause protein truncation, or known disease-associated missense mutations.
Some of the abovementioned studies have found evidence of more severe disease in KCNJ5 mutation carriers, including higher aldosterone levels at diagnosis and lower potassium levels.
Other environmental exposures have been investigated among BRCA1/2 mutation carriers, including cigarette smoking and caffeine intake, but results have been inconsistent [ 18- 21].
It has been reported that BRCA1 and BRCA2 mutation carriers, including those who have undergone prophylactic bilateral oophorectomy, are at increased risk of PPC [ 9, 10].
Management options for unaffected mutation carriers include prophylactic total gastrectomy (Lynch et al. 2008; Cisco and Norton 2008; Rogers et al. 2008).
The current study is composed of a total of 1,665 adult, female mutation carriers, including 1,122 BRCA1 carriers (433 cases and 689 controls) and 543 BRcarriersiers (238 cases and 305 controls).
