… miss 10 of 96 (10%) mutation-positive families. A review of the … /2 mutation carrier families
in comparison to mutation-negative … Independent studies support our findings of a significantly …

… have shown that HD gene mutation carrier (HDgmc) individuals (CAG-RL ≥36) present
functional connectivity alterations in subcortical (SC) and default mode networks. In this analysis…

… The study of asymptomatic carriers of GRN Thr272fs mutation (… dementia and affects age at
onset in GRN mutation carriers. … between GRN mutation and TMEM106B is supported at the …

… Here, we report preliminary connection-wise analysis of neuronal networks based on
mutation and cognitive status, as well as estimated years to symptom onset (EYO), in autosomal …

… mutation carriers before dementia onset. Twenty-four at-risk members from six families with
known GRN mutations … There was a trend for mutation carriers (n=8) to perform more poorly …

… BRCA1 mutation carriers have increased and variable risks of breast and ovarian cancer. …
multi-stage GWAS of 14,351 BRCA1 mutation carriers was performed. Loci 1q32 and TCF7L2 …

… Some indirect data support the hypothesis of a distinct molecular pathway in hereditary breast
… Recently, it has been observed that breast cancers arising in BRCAI mutation carriers are …

… Although controversial, there are data to support the hypothesis of allelic risk heterogeneity.
… group (Evidence-based network for the interpretation of germline mutant alleles)[35]. …

… The existing LFS criteria have limitations, suggesting the need for an advanced prediction
tool to support clinical decision making for TP53 mutation testing and LFS management. …

… non-manifesting carriers and non-manifesting non-carriers using a support vector machine
… non-manifesting carriers (NMC) and non-manifesting non-carriers (NMNC) a support vector …