A5048653389- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Colorectal Cancer Treatments and Studies
- Colorectal Cancer Screening and Detection
- Endometrial and Cervical Cancer Treatments
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- Prenatal Screening and Diagnostics
- PARP inhibition in cancer therapy
- Health Systems, Economic Evaluations, Quality of Life
- RNA Research and Splicing
- Cancer-related molecular mechanisms research
- Colorectal and Anal Carcinomas
- Intraperitoneal and Appendiceal Malignancies
King Edward Memorial Hospital
2017-2024
Services Australia
2021-2022
Cancer Council Western Australia
2022
Peter MacCallum Cancer Centre
2017
Our objective was to validate the prognostic role of chemotherapy response score (CRS), which has been proposed for measuring tumor neoadjuvant in patients with high-grade serous tubo-ovarian carcinoma, predicting progression-free survival (PFS) and overall (OS).A retrospective cohort study conducted advanced carcinoma diagnosed between January 1, 2010, December 31, 2014, treated chemotherapy. Treatment-related regression determined according 3-tier CRS, results were compared standard...
Abstract Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) leads to a significant proportion unresolved cases classified as suspected Lynch syndrome (SLS). SLS (n = 135) were recruited from Family Cancer Clinics across Australia New Zealand. Targeted panel sequencing was performed on tumor 137; 80×CRCs, 33×ECs 24xSSTs) matched blood-derived assess microsatellite instability status, mutation burden,...
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These may carry pathogenic variants in predisposition genes be at higher risk developing cancer.This multi-centre prospective study recruited 195 cancer-affected participants suspected to have whom previous clinical targeted genetic testing was either informative or available. To identify disease-causing explaining participant presentation, germline whole-genome...
Objectives The objectives of this work were to determine the proportion eligible patients with ovarian cancer discussed at a gynecologic oncology tumor board who referred for counseling and BRCA mutation testing; compare referral rates before genetics attendance after attendance; ascertain proportions women germline mutations. Materials Methods Eligible cases identified from minutes weekly Western Australian July 1, 2013 June 30, 2015. Patients met eligibility criteria checked against...
Abstract The complexity of genetic variant interpretation means that a proportion individuals who undergo testing for hereditary cancer syndrome will have their test result reclassified over time. Such reclassification may involve clinically significant upgrade or downgrade in pathogenicity, which implications medical management. To date, few studies examined the psychosocial impact context. address this gap, semi-structured telephone interviews were performed with eighteen had BRCA1 , BRCA2...
<h3>Introduction</h3> Patients with non-mucinous epithelial tubo-ovarian cancers should be referred for genetic testing because approximately 15% will carry an inherited mutation in the <i>BRCA1 or BRCA2</i> cancer susceptibility genes. However, referral rates remain low. For patients who a <i>BRCA</i> mutation, failure to refer results missed opportunities therapy and prevention of future patient at-risk relatives. In Western Australia between July 2013 June 2015, 40.6% discussed at...
Tubo-ovarian cancer (TOC) is a sentinel for BRCA1 and BRCA2 pathogenic variants (PVs). Identification of PV in the first member family at increased genetic risk (the proband) provides opportunities prevention other at-risk members. Although Australian testing rates are now high, PVs patients with TOC whose diagnosis predated revised guidelines might have been missed. We assessed feasibility detecting this population to enable reduction relatives.In pilot study, deceased probands were...
To inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3-5% of colorectal cancers (CRCs). While guidelines commonly recommend LS tumour testing all CRC patients, implementation health systems known be highly variable. provide insights on the heterogeneity practice bottlenecks a high-income country with universal healthcare, we characterise referral seven Australian hospitals across...
Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) leads to a significant proportion unresolved cases classified as suspected Lynch syndrome (SLS). SLS (n=135) were recruited from Family Cancer Clinics across Australia New Zealand. Targeted panel sequencing was performed on tumor (n=137; 80xCRCs, 33xECs 24xSSTs) matched blood-derived assess microsatellite instability status, mutation burden, COSMIC...
Abstract Background This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use BRCA1/2 germline testing, risk management advice given by health professionals to women with pathogenic variants and uptake such patients. Methods Clinic files 883 who had initial proband screens for at 12 familial clinics between July 2008–July 2009 (i.e. before guideline release), 2010–July 2011 2012–July 2013 (both after release) were audited determine reason genetic...
In 2016 universal screening with mismatch repair protein immunohistochemistry in all newly diagnosed endometrial carcinomas was introduced Western Australia.To compare the prevalence of Lynch syndrome associated between and 2019 a historical control (2015). Additionally, to number cases appropriately referred for genetic assessment.A cross-sectional study presented at Australia gynecologic oncology tumor board carried out. The primary outcome carcinomas. A secondary assessment. following...
Abstract Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. Lynch syndrome specific tumor features were evaluated for their ability support ACMG/InSiGHT framework classifying of uncertain clinical significance (VUS) MMR genes. Twenty-eight CRC or EC tumors from 25 VUS carriers (6x MLH1 , 9x MSH2 6x MSH6 4x PMS2 ), underwent targeted sequencing presence microsatellite instability/MMR-deficiency...
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. Lynch syndrome specific tumor features were evaluated for their ability support ACMG/InSiGHT framework classifying of uncertain clinical significance (VUS) MMR genes. Twenty-eight CRC or EC tumors from 25 VUS carriers (6x