Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent
KK Oros, P Ghadirian, CM Maugard, C Perret… - Clinical …, 2006 - Wiley Online Library
… 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 …
in comparison to mutation-negative … Independent studies support our findings of a significantly …
Whole-brain connectivity in a large study of Huntington's disease gene mutation carriers and healthy controls
… 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…
functional connectivity alterations in subcortical (SC) and default mode networks. In this analysis…
Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers
E Premi, A Formenti, S Gazzina, S Archetti… - JAMA …, 2014 - jamanetwork.com
… 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 …
onset in GRN mutation carriers. … between GRN mutation and TMEM106B is supported at the …
Neuronal networks are differentially affected in mutation carriers versus non‐carriers in autosomal dominant Alzheimer's disease
…, Dominantly Inherited Alzheimer Network - Alzheimer's & …, 2021 - Wiley Online Library
… 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 and cognitive status, as well as estimated years to symptom onset (EYO), in autosomal …
Early neuropsychological characteristics of progranulin mutation carriers
BJ Hallam, C Jacova, GYR Hsiung… - Journal of the …, 2014 - cambridge.org
… 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 …
known GRN mutations … There was a trend for mutation carriers (n=8) to perform more poorly …
[HTML][HTML] Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
…, M Thomassen, Ontario Cancer Genetics Network… - PLoS …, 2013 - journals.plos.org
… 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 …
multi-stage GWAS of 14,351 BRCA1 mutation carriers was performed. Loci 1q32 and TCF7L2 …
Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome
WD Foulkes, PO Chappuis, N Wong, JS Brunet… - Annals of oncology, 2000 - Elsevier
… 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 …
… Recently, it has been observed that breast cancers arising in BRCAI mutation carriers are …
[HTML][HTML] … risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier …
J Lecarpentier, C Noguès, E Mouret-Fourme… - Breast Cancer …, 2012 - Springer
… 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]. …
… group (Evidence-based network for the interpretation of germline mutant alleles)[35]. …
Estimating TP53 Mutation Carrier Probability in Families with Li–Fraumeni Syndrome Using LFSPRO
… 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. …
tool to support clinical decision making for TP53 mutation testing and LFS management. …
Network abnormalities among non‐manifesting Parkinson disease related LRRK2 mutation carriers
Y Jacob, K Rosenberg‐Katz, T Gurevich… - Human Brain …, 2019 - Wiley Online Library
… 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 …
… non-manifesting carriers (NMC) and non-manifesting non-carriers (NMNC) a support vector …