Sentence examples for mutation carriers involved from inspiring English sources

The available studies on BRCA 1 and 2 mutation carriers involved small groups of subjects and reported contrasting results; our meta-analysis including 117 cases, pooled from different studies, shows similar difference between cases and controls in BRCA-positive cases and in cases with a negative BRCA test.

A large dataset, aimed at expanding the knowledge of OC pathology in these patients, has been recently reported by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) that represent the largest collaborative study of BRCA1 and BRCA2 mutation carriers, involving more than 37 groups from more than 20 countries [ 60].

Microscopic occult carcinomas have been identified in these specimens in about 2% to 11% of BRCA mutation carriers, generally involving the tubal fimbriae [ 117– 117].

Our finding has implications for treatment and screening of BRCA1 mutation carriers using modalities that involve irradiation.

It has been shown that tumors derived from BRCA1 mutation carriers acquire gross mutations in PTEN, involving genetic lesions consistent with inappropriate DNA repair.

In MAPT mutation carriers, longitudinal volume loss is symmetric and involves anteromedial temporal lobes, orbitofrontal cortex, and white matter tracts, including corpus callosum [ 25].

Consistent associations were found for BRCA1 and/or BRCA2 mutation carriers (Antoniou et al, 2008), indicating that SNPs involved in the susceptibility to develop breast cancer in the general population are good candidates to be tested as potential modifiers in BRCA1 and BRCA2 mutation carriers.

Given the rarity of PALB2 mutations, studies that involve large numbers of PALB2 mutation carriers would be required and could be facilitated though international efforts to combine data sets.

However, it is still unclear exactly which mechanisms are involved in cancer development in BRCA1/2 mutation carriers, and whether they differ from those taking place in sporadic cases.

Mutation carriers are offered additional consultations with a multidisciplinary team involved in the Family Cancer Clinic, generally consisting of a medical oncologist, gynaecologist, and surgeon.

In any case, it is clear that disturbed UPR signaling is not a common feature of PS1 mutations and, in addition, it is elusive whether UPR signaling is activated and involved in the pathogenesis of AD in PS1 mutation carriers.