Sentence examples for mutation carriers but from inspiring English sources

Here we find aplastic anemia in 2 TERT mutation carriers, but isolated anemia in 18 individuals.

However, remarkable inconsistencies were noticed in several cases, like a severe disease manifestation in patients, but only subtle alterations in channel kinetics [6] [8], or asymptomatic mutation carriers, but severely impaired in vitro channel function [9] [12].

This effect might be tolerated in treatment of adult LQT-3 mutation carriers but it might offset the effects of flecainide on F1473C mutant channel activity in the mutation carrier due to his age and genetic background.

Indeed, aberrant methylation was found in 42.1% of the BRCA mutation carriers but in none of five negative controls.

Apolipoprotein M levels are reduced in HNF1A mutation carriers but are not a useful predictive marker (46).

In univariable analysis, distant recurrence and OS were inferior for BRCA2 mutation carriers, but not for BRCA1 mutation carriers.

Similarly, crytogenic liver cirrhosis is found in one TERT mutation carrier, but elevated liver function tests are seen in 11 individuals.

Because P was negatively associated with serum OPG, especially in BRCA-mutation carriers, but the well-established P-mediated increase in RANKL in breast tissue was not mirrored in serum, we examined serum and mammary gland tissues from ovariectomised adult female cynomolgus macaques treated with no hormones (control), oestrogen only (CEE) or oestrogen/progestin (CEE + MPA) for 2 years.

Under the multiplicative model, there was no evidence of heterogeneity in the HRs of rs7164529 between studies (P = 0.66 and 0.21 for BRCA1 and BRCA2 mutation carriers, respectively) but some suggestion for rs10519219 among BRCA2 mutation carriers (P = 0.041).

The ovarian cancer SIR was elevated overall (2.46; 95% CI 1.23 4.92; P=0.01) and for mothers and sisters of BRCA1 mutation carriers (P<0.001), but not for mothers and sisters of index cases who tested negative or were not tested; see also Figure 2. No ovarian cancers were observed in relatives of BRCA2 mutation carriers.

It is likely that these patients also might benefit from platinum-based therapies and/or PARP inhibition like BRCA mutation carriers do, but, to date, we still need to introduce validated tests into daily practice in order to identify patients with "BRCAness" profiles who carry mutations in genes such as ATM, CHEK2, RAD51, BRIP1, and PALB2.