Search Results - "Trottier, Magan"
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Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer
Published in Genetics in medicine (01-11-2021)“…Purpose To address demands for timely germline information to guide treatments, we evaluated experiences of patients with ovarian, pancreatic, and prostate…”
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A Distinctive DNA Damage Response in Human Hematopoietic Stem Cells Reveals an Apoptosis-Independent Role for p53 in Self-Renewal
Published in Cell stem cell (06-08-2010)“…Highly regenerative tissues such as blood must possess effective DNA damage responses (DDR) that balance long-term regeneration with protection from…”
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3
Treating constipation during pregnancy
Published in Canadian family physician (01-08-2012)“…Many of my patients experience constipation during pregnancy, even after increasing dietary fibre and fluids. Are there any safe treatments I can recommend to…”
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4
Attenuated DNA damage responses and increased apoptosis characterize human hematopoietic stem cells exposed to irradiation
Published in Scientific reports (17-04-2018)“…Failure to precisely repair DNA damage in self-renewing Hematopoietic Stem and early Progenitor Cells (HSPCs) can disrupt normal hematopoiesis and promote…”
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5
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
Published in Molecular genetics & genomic medicine (01-08-2024)“…Background Consumer genomic testing (CGT), including direct‐to‐consumer and consumer‐initiated testing, is increasingly widespread yet has limited regulatory…”
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Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome
Published in Molecular genetics & genomic medicine (01-12-2020)“…Background Lynch Syndrome (LS) is caused by germline mutations in the DNA mismatch repair (MMR) genes with mutations in MLH1 accounting for ~40% of LS‐related…”
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Response of human hematopoietic cells to DNA double-strand breaks
Published 01-01-2009“…Maintenance of hematopoiesis depends upon rare hematopoietic stem cells (HSCs), which can persist over an organism's lifetime. It is conceivable that they must…”
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Dissertation -
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Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing
Published in JAMA : the journal of the American Medical Association (05-09-2017)“…IMPORTANCE: Guidelines for cancer genetic testing based on family history may miss clinically actionable genetic changes with established implications for…”
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Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities
Published in Journal of clinical oncology (01-01-2023)“…Cancer predictive or diagnostic assays, offered as Laboratory-Developed Tests (LDTs), have been subject to regulatory authority and enforcement discretion by…”
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Disparities in cancer genetics care by race/ethnicity among pan‐cancer patients with pathogenic germline variants
Published in Cancer (01-11-2022)“…Background Germline risk assessment is increasing as part of cancer care; however, disparities in subsequent genetic counseling are unknown. Methods Pan‐cancer…”
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Outcomes of incidentally detected ovarian cancers diagnosed at time of risk-reducing salpingo-oophorectomy in BRCA mutation carriers
Published in Gynecologic oncology (01-05-2021)“…Prior data suggested that women with incidentally detected occult invasive ovarian cancer (OIOC) at the time of risk-reducing salpingo-oophorectomy (RRSO) for…”
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Disparities in pan-cancer patients undergoing germline cancer risk assessment by self-reported race/ethnicity and ancestry
Published in Journal of clinical oncology (20-05-2021)“…Abstract only 10508 Background: Disparities in access to germline testing for cancer patients (pts) have been demonstrated; however, disparities in…”
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Journal Article -
13
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome
Published in Genes chromosomes & cancer (01-08-2021)“…Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). In this study, we identified and characterized a novel SINE‐VNTR‐Alu (SVA)…”
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14
Fanconi Anemia and the Response of Human Hematopoietic Cells to DNA Damage
Published in Blood (16-11-2008)“…Given their critical role in the generation and renewal of the hematopoietic system, we hypothesize that hematopoietic stem and primitive cells employ…”
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15
Parents’ Perspectives on Participating in Genetic Research in Autism
Published in Journal of autism and developmental disorders (01-03-2013)“…Genetic research in autism depends on the willingness of individuals with autism to participate; thus, there is a duty to assess participants’ needs in the…”
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Whole-Genome Analysis and HLA Genotyping of Enteropathy-Type T-Cell Lymphoma Reveals 2 Distinct Lymphoma Subtypes
Published in Gastroenterology (New York, N.Y. 1943) (01-05-2007)“…Background & Aims: Enteropathy-type T-cell lymphoma (ETL) is an aggressive extranodal T-cell non-Hodgkin lymphoma assumed to arise in the setting of celiac…”
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Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family
Published in Breast cancer research and treatment (01-12-2016)“…Purpose Mutations in PALB2 have been associated with a predisposition to breast and pancreatic cancers. This study aims to characterize a novel PALB2 exon 13…”
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Clinical characterization of DNA mismatch repair deficiency (MMR-D) in endometrial cancer (EC)
Published in Journal of clinical oncology (20-05-2016)“…Abstract only…”
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Feasibility and long-term utility of a psychosocial support group for patients with Lynch syndrome
Published in Journal of clinical oncology (20-05-2016)“…Abstract only…”
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Somatic tumor profiling of DNA mismatch repair (MMR) deficient endometrial cancers (EC)
Published in Journal of clinical oncology (20-05-2017)“…Abstract only e17121 Background: Approximately 20% of EC have loss of MMR ( MSH2, MSH6, MLH1, PMS2) protein expression by immunohistochemistry (IHC). The…”
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