Longitudinal Magnetic Resonance Imaging in Asymptomatic C9orf72 Mutation Carriers Distinguishes Phenoconverters to Amyotrophic Lateral Sclerosis or Amyotrophic Lateral Sclerosis With Frontotemporal Dementia
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DOI: 10.1002/ana.27116
Abstract: We prospectively studied asymptomatic C9orf72 mutation carriers, identifying those developing amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). read more here.
Keywords: c9orf72 mutation; mutation carriers; asymptomatic c9orf72; amyotrophic lateral ... See more keywords
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers
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DOI: 10.1002/ijc.31257
Abstract: Tobacco smoke is an established carcinogen, but the association between tobacco smoking and cancer risk in BRCA mutation carriers is not clear. The aim of this study was to evaluate prospectively the association between tobacco… read more here.
Keywords: mutation carriers; brca1 brca2; smoking cancer; cancer ... See more keywords
Proteomic signature for detection of high‐grade ovarian cancer in germline BRCA mutation carriers
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DOI: 10.1002/ijc.34318
Abstract: No current screening methods for high‐grade ovarian cancer (HGOC) guarantee effective early detection for high‐risk women such as germline BRCA mutation carriers. Therefore, the standard‐of‐care remains risk‐reducing salpingo‐oophorectomy (RRSO) around age 40. Proximal liquid biopsy… read more here.
Keywords: high grade; brca mutation; mutation carriers; mutation ... See more keywords
Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review
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DOI: 10.1002/mds.28485
Abstract: This comprehensive MDSGene review is devoted to 7 genes — TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA — mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened… read more here.
Keywords: mutation carriers; hpca; dystonia; isolated dystonia ... See more keywords
TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers
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DOI: 10.1007/s00415-021-10887-x
Abstract: Frontotemporal dementia (FTD) is a neurodegenerative disease, resulting in progressive problems in language and/or behaviour and is often diagnosed before 65 years of age. Ubiquitin positive protein aggregates in the brain are among the key… read more here.
Keywords: mutation carriers; k63 ubiquitination; brain; tbk1 haploinsufficiency ... See more keywords
Precursor fractions of neurotensin and enkephalin might point to molecular mechanisms of cancer risk modulation during a lifestyle-intervention in germline BRCA1/2 gene mutation carriers
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DOI: 10.1007/s10549-020-06070-x
Abstract: Germline BRCA1/2 mutation carriers (gBMC) face increased cancer risks that are modulated via non-genetic lifestyle factors whose underlying molecular mechanisms are unknown. The peptides Neurotensin (NT) and Enkephalin (ENK)—involved in tumorigenesis and obesity-related diseases—are of… read more here.
Keywords: intervention; lifestyle intervention; mutation carriers; molecular mechanisms ... See more keywords
Five-year prognostic significance of global longitudinal strain in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes
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DOI: 10.1007/s12471-019-1226-5
Abstract: BackgroundPrevious studies have reported that global longitudinal strain (GLS) is reduced in patients with hypertrophic cardiomyopathy (HCM) while left ventricular ejection fraction (LVEF) is normal. Our aim was to assess GLS in individuals with HCM… read more here.
Keywords: mutation carriers; hcm; hypertrophic changes; global longitudinal ... See more keywords
Effect of risk-reducing salpingo-oophorectomy on quality of life in Korean BRCA mutation carriers.
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DOI: 10.1016/j.asjsur.2021.01.007
Abstract: BACKGROUND This study aimed to compare the quality of life (QOL), psychosocial status, sexual function, and menopausal symptoms between the risk-reducing salpingo-oophorectomy (RRSO) and non-RRSO groups comprising BRCA mutation carriers and to evaluate the effect… read more here.
Keywords: mutation carriers; rrso group; brca mutation; rrso ... See more keywords
Psychological implications of risk-reducing mastectomies in BRCA1/2 mutation carriers.
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DOI: 10.1016/j.cireng.2021.06.014
Abstract: Risk-reducing surgeries decrease the risk of developing breast cancer by 95%. But this type of surgery can be life-changing. This systematic review analyzed anxiety/depressive symptomatology, body image and quality of life on BRCA1/2 mutation carriers… read more here.
Keywords: symptomatology; risk reducing; mutation carriers; brca1 mutation ... See more keywords
Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers
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DOI: 10.1016/j.clbc.2018.02.007
Abstract: Introduction We investigated the relative risk of breast and ovarian cancers related to the putative functional domain regions, obesity, and parity among Korean BRCA1/2 mutation carriers. Patients and Methods We analyzed the clinical characteristics, cancer… read more here.
Keywords: risk; mutation carriers; breast; brca1 mutation ... See more keywords
Comparison of background parenchymal enhancement and fibroglandular density at breast magnetic resonance imaging between BRCA gene mutation carriers and non-carriers.
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DOI: 10.1016/j.clinimag.2018.06.010
Abstract: OBJECTIVE High background parenchymal enhancement and amount of fibroglandular tissue on breast magnetic resonance imaging are related to increased breast cancer risk. This study sought to compare these parameters between BRCA mutation carriers and non-carriers… read more here.
Keywords: background parenchymal; mutation carriers; breast; parenchymal enhancement ... See more keywords