scholarly journals Genetic Mutation Carriers: Special Considerations for Their Influence on a Modern Breast Reconstruction Practice

2020 ◽  
Author(s):  
Ashley A. Woodfin ◽  
Anuja K. Antony
Keyword(s):  
Breast Reconstruction ◽  
Genetic Mutation ◽  
Mutation Carriers

scholarly journals Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort

2021 ◽  
Vol 18 ◽  
Author(s):  
Chenhui Mao ◽  
Jie Li ◽  
Liling Dong ◽  
Xinying Huang ◽  
Dan Lei ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Clinical Phenotype ◽  
Genetic Mutation ◽  
Mutation Spectrum ◽  
Systemic Review ◽  
Genetic Mutations ◽  
Csf Biomarkers ◽  
Mutation Carriers

Background: Alzheimer’s disease with a causative genetic mutation (AD-CGM) is an un- common form, characterized by a heterogeneous clinical phenotype and variations in the genotype of racial groups affected. Objective: We aimed to systemically describe the phenotype variance and mutation spectrum in the large sample size of the Peking Union Medical College Hospital (PUMCH) cohort, Beijing, China. Method: Next-generation sequencing (NGS) was carried out in 1108 patients diagnosed with dementia. A total of 40 Han Chinese patients with three AD gene mutations were enrolled. A systemic review of all the patients was performed, including clinical history, neurocognitive assessment, brain magnetic resonance imaging, and cerebrospinal fluid (CSF) biomarkers. Results: We studied the following gene mutation variants: 12 AβPP, 13 PSEN1, and 9 PSEN2, and 23 among them were novel. Most of them were early-onset, but PSEN1 mutation carriers had the youngest onset age. The commonest symptoms were similar to those of AD, including an amnestic syndrome, followed by psychiatric symptoms and movement disorder. On MRI, parietal and posterior temporal atrophy was prominent in PSEN1 and PSEN2 mutation carriers, while AβPP mutation carriers had more vascular changes. The CSF biomarkers profile was indistinguishable from sporadic AD. Conclusion: We identified a small group of AD-CGM subjects representing 3.6% among more than 1000 demented patients in the PUMCH cohort. These subjects usually presented with early-onset de- mentia and exhibited significant clinical and genetic heterogeneity. Identification required complete screening of genetic mutations using NGS. Although family history was usually present, we found non-familial cases of all three genetic mutations.

Breast reconstruction after risk-reducing mastectomy in BRCA mutation carriers

Breast Cancer ◽  
2019 ◽  
Vol 27 (1) ◽  
pp. 70-76
Author(s):  
Naomi Nagura ◽  
Naoki Hayashi ◽  
Junko Takei ◽  
Atsushi Yoshida ◽  
Tomohiro Ochi ◽  
...  
Keyword(s):  
Breast Reconstruction ◽  
Brca Mutation ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Risk Reducing

scholarly journals Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer

2016 ◽  
Vol 23 (10) ◽  
pp. 3232-3238 ◽  
Author(s):  
Akiko Chiba ◽  
Tanya L. Hoskin ◽  
Emily J. Hallberg ◽  
Jodie A. Cogswell ◽  
Courtney N. Heins ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Brca2 Mutation ◽  
Genetic Mutation ◽  
Surgical Decision ◽  
Mutation Carriers ◽  
Brca1 Brca2 ◽  
Surgical Decision Making

Risk-Reducing Surgery for BRCA1/2 Genetic Mutation Carriers

2017 ◽  
pp. 47-63
Author(s):  
Cristina O’Donoghue ◽  
Sonia Orcutt ◽  
Tuya Pal ◽  
Christine Laronga
Keyword(s):  
Genetic Mutation ◽  
Mutation Carriers ◽  
Risk Reducing

scholarly journals PSYCHOSOCIAL PROFILE OF BRCA GENETIC MUTATION CARRIERS

2020 ◽  
Vol 21 (01) ◽  
pp. 161-168
Author(s):  
Ana Pereira ◽  
Rute Meneses ◽  
Raquel Guimarães
Keyword(s):  
Genetic Mutation ◽  
Psychosocial Profile ◽  
Mutation Carriers

scholarly journals Prophylactic Surgery in the BRCA+ Patient: Do Women Develop Breast Cancer While Waiting?

2021 ◽  
Vol 28 (1) ◽  
pp. 702-715
Author(s):  
Sheina A. Macadam ◽  
Karen Slater ◽  
Rona E. Cheifetz ◽  
Leigh Jansen ◽  
Stephen Chia ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Reconstruction ◽  
Prophylactic Mastectomy ◽  
Brca Mutation ◽  
Prophylactic Surgery ◽  
Historical Cohort ◽  
Patient Journey ◽  
Time To Surgery ◽  
Mutation Carriers ◽  
Brca Mutation Carriers

Breast cancer susceptibility gene (BRCA) mutation carriers have an increased risk of breast cancer. Mitigation of this risk can be achieved via surveillance or prophylactic mastectomy with or without breast reconstruction. Those that choose surgery expect to reduce their chance of developing cancer. The purpose of this study was to determine the incidence of patients developing breast cancer prior to surgery and to identify modifiable contributing factors within the patient journey. This is a historical cohort study of all BRCA mutation carriers identified through the British Columbia Cancer Hereditary Cancer Program between 2000 and 2012. Patients were divided into two groups: surveillance (S) and prophylactic mastectomy with immediate breast reconstruction (PM/IBR). The incidence of cancer, time to PM/IBR and patient journeys were analyzed. A total of 333 women were identified. The time to surgery from mutation disclosure was a median of 31 (5.3, 75.7) months. During this period, 6% of patients developed breast cancer compared with a 14% incidence of breast cancer in patients choosing surveillance. The majority of time to surgery was attributed to the period between mutation disclosure and the decision to proceed with surgery. Strategies to facilitate decision-making as well as wait list prioritization and dedicated operative time should be targeted to this population to decrease the number of women developing an interval cancer prior to surgery.

Risk reducing mastectomy, breast reconstruction and patient satisfaction in Norwegian BRCA1/2 mutation carriers

The Breast ◽  
2014 ◽  
Vol 23 (1) ◽  
pp. 38-43 ◽  
Author(s):  
Anne Irene Hagen ◽  
Lovise Mæhle ◽  
Nina Vedå ◽  
Hildegunn Høberg Vetti ◽  
Astrid Stormorken ◽  
...  
Keyword(s):  
Patient Satisfaction ◽  
Breast Reconstruction ◽  
Mutation Carriers ◽  
Risk Reducing

scholarly journals hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells

Cells ◽  
2020 ◽  
Vol 9 (5) ◽  
pp. 1153 ◽  
Author(s):  
Disheet Shah ◽  
Chandra Prajapati ◽  
Kirsi Penttinen ◽  
Reeja Maria Cherian ◽  
Jussi T. Koivumäki ◽  
...  
Keyword(s):  
Single Cells ◽  
Induced Pluripotent Stem Cell ◽  
Genetic Mutation ◽  
Channel Blockers ◽  
Aggregate Level ◽  
Gene Encoding ◽  
Clinical Phenotypes ◽  
Mutation Carriers ◽  
Induced Pluripotent

Mutations in the HERG gene encoding the potassium ion channel HERG, represent one of the most frequent causes of long QT syndrome type-2 (LQT2). The same genetic mutation frequently presents different clinical phenotypes in the family. Our study aimed to model LQT2 and study functional differences between the mutation carriers of variable clinical phenotypes. We derived human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM) from asymptomatic and symptomatic HERG mutation carriers from the same family. When comparing asymptomatic and symptomatic single LQT2 hiPSC-CMs, results from allelic imbalance, potassium current density, and arrhythmicity on adrenaline exposure were similar, but a difference in Ca2+ transients was observed. The major differences were, however, observed at aggregate level with increased susceptibility to arrhythmias on exposure to adrenaline or potassium channel blockers on CM aggregates derived from the symptomatic individual. The effect of this mutation was modeled in-silico which indicated the reactivation of an inward calcium current as one of the main causes of arrhythmia. Our in-vitro hiPSC-CM model recapitulated major phenotype characteristics observed in LQT2 mutation carriers and strong phenotype differences between LQT2 asymptomatic vs. symptomatic were revealed at CM-aggregate level.

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