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Our series of 64 BRCandand BRCA2 mutation carriers after salpingo-oophorectomy includes only six BRCA2 carriers (9.4%).
Eligible patients are premenopausal BRCA1/2 mutation carriers after completing childbearing without (a history of) ovarian carcinoma.
In our opinion, this follow-up regimen should also be offered to CHEK2 1100delC mutation carriers after breast cancer diagnosis.
Indeed, recently published data provided evidence for neurological improvement in diabetic Kir6.2 mutation carriers after glibenclamide use [ 70].
A lower breast cancer-specific overall survival rate was observed in BRCA2 mutation carriers after the first two years from diagnosis.
Estimates of the risks associated with these variants based on population-based studies are likely to be applicable to mutation carriers after taking ER status into account, which has implications for risk prediction.
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Ten additional BRCA1/2 mutation carriers diagnosed after 1994 were referred to the CGC in the later years after diagnosis.
We describe, for the first time, the gradual alteration in glucose homeostasis and development of MODY in the HNF4A-mutation carrier after resolution of hyperinsulinaemic hypoglycaemia, on prospective follow-up with an annual oral glucose tolerance test.
Moreover, other studies of Ashkenazim have found no difference in overall survival between BRCA mutation carriers and non-carriers after a diagnosis of breast cancer [24], and have suggested a more favorable overall survival among women with BRCA-related ovarian cancer [27].
This study focuses on another endpoint, i.e. whether BRCA mutation carriers return for oophorectomy after earlier salpingectomy.
For the sensitivity analysis, the association analysis by ER status was repeated after excluding mutation carriers diagnosed with breast cancer ≥5 years prior to study recruitment.
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