Sentence examples for mutation carriers including from inspiring English sources

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.

A total of 254 BRCA1 mutation carriers including 127 ovarian cancer cases and 127 unaffected controls were included in this study.

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).

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].

15, 16 Importantly, epigenetic inactivation of the BRCA1 gene is associated with pathological features that are also prevalent in tumors derived from BRCA1 mutation carriers including ER negativity and the special histological types medullary and mucinous types.

Clinical characteristics of cancers in mutation carriers included features of high-risk disease.

Other possible sites of cancer for BRCA1 mutation carriers included cutaneous melanoma, basal cell carcinoma and sarcoma [ 15].

Risk-reducing surgery in BRCA1/2 gene mutation carriers includes prophylactic bilateral salpingo-oophorectomy (PBSO) and/or prophylactic bilateral mastectomy (PBM).

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.

Management options for unaffected mutation carriers include prophylactic total gastrectomy (Lynch et al. 2008; Cisco and Norton 2008; Rogers et al. 2008).