… the network the bigger the bowl of cherries...”: exploring the acceptability of, and preferences for, an ongoing support network for known BRCA 1 and BRCA 2 mutation …
L Hughes, C Phelps - Journal of genetic counseling, 2010 - Springer
… the acceptability of a support network for BRCA mutation carriers. The discussions revealed
… user friendly support network offering a variety of options beyond traditional support groups, …
… user friendly support network offering a variety of options beyond traditional support groups, …
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
N Brouwers, K Nuytemans, J van der Zee… - Archives of …, 2007 - jamanetwork.com
… and in PGRN null mutation carriers, parkinsonism has already … fact that PGRN null mutations
cause FTLD, support a role for … For mutation carriers, samples from additional relatives were …
cause FTLD, support a role for … For mutation carriers, samples from additional relatives were …
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer
PS Felicio, RS Grasel, N Campacci… - … mutation, 2021 - Wiley Online Library
… The data that support the findings of this study are available on request from the corresponding
author. The variants identified are publicly available (Clinvar database, available at https:/…
author. The variants identified are publicly available (Clinvar database, available at https:/…
Formal and Informal Support Needs of Young Women with BRCA Mutations
A Werner-Lin - Journal of Psychosocial Oncology, 2008 - Taylor & Francis
… Results reveal existing social support networks composed of … isolation, bolstering existing
support networks, and designing … BRCA2, which predispose carriers to hereditary breast and …
support networks, and designing … BRCA2, which predispose carriers to hereditary breast and …
[PDF][PDF] Genetic Mutation Carriers: A growing, evolving, and unique breast surgery population
AA Woodfin, A Madrigrano, R Skladman… - Scholarly J …, 2019 - innovationinfo.org
… There are many online support groups for mutation carriers … their entire experience as a
‘mutation carrier,’ ‘cancer thriver,’ … within our institution’s network because of care that they …
‘mutation carrier,’ ‘cancer thriver,’ … within our institution’s network because of care that they …
Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy
BJ Maron, C Semsarian - European heart journal, 2010 - academic.oup.com
… disease, 4–9 ie mutation carriers without the HCM phenotype of left ventricular (LV)
hypertrophy. These individuals, who carry mutations in genes encoding proteins of cardiac …
hypertrophy. These individuals, who carry mutations in genes encoding proteins of cardiac …
Finding all BRCA pathogenic mutation carriers: Best practice models
N Hoogerbrugge, MCJ Jongmans - European Journal of Human …, 2016 - nature.com
… You are using a browser version with limited support for CSS. To … In the meantime, to ensure
continued support, we are … in BRCA1 and BRCA2 pathogenic mutation carriers is 59% and …
continued support, we are … in BRCA1 and BRCA2 pathogenic mutation carriers is 59% and …
Effects of spouses on distress experienced by BRCA1 mutation carriers over time
… mutation carriers, this study examined the relationship of the tested person's perceptions of
spousal anxiety and support at … tested persons who are mutation carriers and who perceived …
spousal anxiety and support at … tested persons who are mutation carriers and who perceived …
Penetrance of colorectal cancer among mismatch repair gene mutation carriers: a meta-analysis
… Briefly, we modeled the penetrance in mutation carriers as a probability distribution function
… Our results can support the development of effective prevention strategies and personalized …
… Our results can support the development of effective prevention strategies and personalized …
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing
… In population-based cohorts of patients with breast cancer (43), pediatric and adult-onset
sarcoma (19,52,53), and colorectal cancer (54), the few TP53 mutation carriers often did not …
sarcoma (19,52,53), and colorectal cancer (54), the few TP53 mutation carriers often did not …
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