Michael Bogwitz
A5057050347- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Insect Resistance and Genetics
- Counseling Practices and Supervision
- Genetic factors in colorectal cancer
- Cardiomyopathy and Myosin Studies
- Cancer Risks and Factors
- Vascular Anomalies and Treatments
- Neurobiology and Insect Physiology Research
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Cardiac electrophysiology and arrhythmias
- CRISPR and Genetic Engineering
- Tracheal and airway disorders
- Renal and related cancers
- DNA Repair Mechanisms
- Chromosomal and Genetic Variations
- Invertebrate Immune Response Mechanisms
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Family Support in Illness
- Biomedical Ethics and Regulation
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Ubiquitin and proteasome pathways
The Royal Melbourne Hospital
2012-2023
Peter MacCallum Cancer Centre
2021
Medizinische Hochschule Hannover
2020
The University of Melbourne
2002-2018
Melbourne Health
2012
Monash Medical Centre
2007
Biotechnology Institute
2006
Insecticide resistance is one of the most widespread genetic changes caused by human activity, but we still understand little about origins and spread resistant alleles in global populations insects. Here, via microarray analysis all P450s Drosophila melanogaster , show that DDT-R a gene conferring to DDT, associated with overtranscription single cytochrome P450 gene, Cyp6g1 . Transgenic shows this alone both necessary sufficient for resistance. Resistance up-regulation are allele has...
The increased transcription of the Cyp6g1 gene Drosophila melanogaster, and consequent resistance to insecticides such as DDT, is a widely cited example adaptation mediated by cis-regulatory change. A fragment an Accord transposable element inserted upstream causally associated with has spread high frequencies in populations around world since 1940s. Here we report existence natural allelic series at this locus D. involving copy number variation Cyp6g1, two additional insertions (a P...
Transposable elements are a major mutation source and powerful agents of adaptive change. Some transposable element insertions in genomes increase to high frequency because the selective advantage mutant phenotype provides. Cyp6g1-mediated insecticide resistance Drosophila melanogaster is due upregulation cytochrome P450 gene Cyp6g1, leading variety classes. The Cyp6g1 correlated with presence long terminal repeat (LTR) an Accord retrotransposon inserted 291bp upstream transcription start...
Abstract Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable marks associated with breast by studying 25 Australian multiple-case families. Here we report genome-wide measured 210 peripheral blood samples provided family members using Infinium HumanMethylation450. develop and apply a new statistical method identify based on complex segregation analysis. estimate carrier probabilities...
Lufenuron is an insect growth regulator insecticide mainly used for the control of cat flea. To understand mechanisms resistance to lufenuron, we have characterized lufenuron in a natural population Drosophila melanogaster . In this study precise genetic mapping identify mechanism resistance: overexpression cytochrome P450 gene Cyp12a4. Cyp12a4 predicted encode mitochondrial enzyme. Expression D. third-instar larvae was detected midgut and Malpighian tubules both lufenuron-resistant...
PURPOSE Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant TP53 gene is essential to determine most effective clinical management strategies. These also permit optimal use cosegregation data classification variants unknown significance. Penetrance estimation can easily be affected by bias from ascertainment criteria, an issue not commonly addressed previous studies. MATERIALS AND METHODS...
Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk breast cancer development, consistent with role PALB2 homologous recombination (HR) DNA repair. Here, we sought define repertoire somatic genetic alterations PALB2-associated cancers (BCs), and whether BCs display bi-allelic inactivation and/or genomic features HR-deficiency (HRD). Twenty-four patients mutations were analyzed by whole-exome sequencing (WES, n = 16) or...
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral (CBC) risk cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association protein-truncating (PTVs) rare missense (MSVs) nine known (ATM, BARD1, CHEK2, PALB2, RAD51C, RAD51D, TP53) 25 suspected BC-susceptibility CBC BCSS. Hazard ratios (HRs) 95% confidence intervals (CIs) were estimated Cox regression models. Analyses...
PURPOSE It is uncertain whether, and to what extent, hormonal contraceptives increase breast cancer (BC) risk for germline BRCA1 or BRCA2 mutation carriers. METHODS Using pooled observational data from four prospective cohort studies, associations between contraceptive use BC unaffected female carriers were assessed using Cox regression. RESULTS Of 3,882 1,509 carriers, 53% 71%, respectively, had ever used at least 1 year (median cumulative duration of use, 4.8 5.7 years, respectively)....
Abstract A model for practising genetic counselors to obtain clinical supervision via reciprocal peer observation and feedback was developed trialled. The in response a perceived lack of opportunity immediate observational counselors. aims reached by consensus were facilitate learning new approaches skills, revitalise current ways practising, enhance skills two‐way process, where the observer learnt from counselor, vice‐versa. agreed on process paired whereby present room during counseling...
Abstract Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development precision oncology treatments based on a tumour’s molecular profile. We aimed to develop targeted gene panel for application disparate cancer types with particular focus tumours head and neck, plus test utility in liquid biopsy. The final designed through Roche/Nimblegen combined 451 cancer-associated genes (2.01 Mb target region). 136 patient DNA samples were collected...
Background Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to carcinomas ( BCC ), keratocysts of the jaw and calcification falx cerebri among other clinical features. With advent sonic hedgehog inhibitors for treatment , it timely establish cohort individuals with collect standardised phenotypic information on these individuals. Moreover, health‐related quality life QoL ) in not well studied. Aim To Victorian study Methods Phenotypic data were obtained...
To describe patient characteristics, standard operating procedure, and uptake of genetic testing at the multidisciplinary Cardiac Genetics Clinic (CGC) Royal Melbourne Hospital during its first 6 years.Database exploration referral diagnoses, sex, number clinic visits incidence in a population individuals attending CGC.Tertiary hospital (Royal Hospital) providing cardiac genetics services to state Victoria.All initially between July 2007 2013, either as proband or an at-risk family...
The present study aims to describe the phenotypic features of patients with hereditary haemorrhagic telangiectasia (HHT) seen at Royal Melbourne Hospital, Victoria, Australia, and customise a protocol for surveillance HHT.This is retrospective in tertiary referral hospital all referred Clinical Genetics Service between 2007 2011 suspected diagnosis HHT. Data abstracted from patient clinical records were analysed features, types HHT genetic testing results where available.Our cohort...
Abstract Internationally, the practice of offering additional findings (AFs) when undertaking a clinically indicated genomic test differs. In USA, recommendation is to include analysis for AFs alongside diagnostic analysis, unless patient opts‐out, whereas European and Canadian guidelines recommend opt‐in models. These all consider offer as an activity concurrent with testing. This paper describes novel two‐step model managing within healthcare system in Victoria, Australia presents study...
The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics resolve variants uncertain significance (VUS) in clinical management patients families with cardiomyopathies, primary arrhythmias, congenital heart disease (CHD).
Importance Few studies have investigated whether the associations between pregnancy-related factors and breast cancer (BC) risk differ by underlying BC susceptibility. Evidence regarding variation in is critical to understanding causes for developing effective risk-based screening guidelines. Objective To examine association risk, including modification a of where scores are based on age family history. Design, Setting, Participants This cohort study included participants from prospective...
Objective: Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic condition causing frequent nose bleeds, skin lesions (telangiectasia) and arteriovenous malformations. Approximately, 50% of people experience life-threatening HHT symptoms including haemorrhages in the brain, lungs liver. This study aimed to gain qualitative understanding psychosocial impact over time. Design: Using phenomenological framework, rigorous narrative analysis was performed on 20 semi-structured interviews with...