… 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, …

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 …

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:/…

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 …

[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 …

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 …

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 …

Effects of spouses on distress experienced by BRCA1 mutation carriers over time

JE Wylie, KR Smith, JR Botkin - American Journal of Medical …, 2003 - Wiley Online Library
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 …

Penetrance of colorectal cancer among mismatch repair gene mutation carriers: a meta-analysis

C Wang, Y Wang, KS Hughes… - JNCI Cancer …, 2020 - academic.oup.com
… 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 …

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

HQ Rana, R Gelman, H LaDuca… - JNCI: Journal of the …, 2018 - academic.oup.com
… 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 …