Susan J. Ramus
A5050870337- Ovarian cancer diagnosis and treatment
- BRCA gene mutations in cancer
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- PARP inhibition in cancer therapy
- Endometrial and Cervical Cancer Treatments
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Ferroptosis and cancer prognosis
- CRISPR and Genetic Engineering
- Molecular Biology Techniques and Applications
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Cancer, Lipids, and Metabolism
- Bioinformatics and Genomic Networks
- Virus-based gene therapy research
- Endometriosis Research and Treatment
- Genomic variations and chromosomal abnormalities
- Cancer Immunotherapy and Biomarkers
- Nuclear Structure and Function
- Gene expression and cancer classification
UNSW Sydney
2016-2025
Cancer Institute of New South Wales
2019-2025
University of Southern California
2011-2023
University College London
2008-2023
The University of Melbourne
2004-2023
Ovarian Cancer Research Alliance
2009-2023
Cancer Australia
2004-2023
Outcomes Research Consortium
2023
American Cancer Society
2012-2022
National Cancer Institute
2010-2022
Endometriosis is a risk factor for epithelial ovarian cancer; however, whether this extends to all invasive histological subtypes or borderline tumours not clear. We undertook an international collaborative study assess the association between endometriosis and of cancer.
Polycomb group proteins (PCGs) are involved in repression of genes that required for stem cell differentiation. Recently, it was shown promoters PCG target (PCGTs) 12-fold more likely to be methylated cancer than non-PCGTs. Age is the most important demographic risk factor cancer, and we hypothesized its carcinogenic potential may referred by irreversibly stabilizing features. To test this, analyzed methylation status over 27,000 CpGs mapping ∼14,000 whole blood samples from 261...
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
Background:Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy, responsible for 13 000 deaths per year in United States. Risk prediction based on identifying germline mutations susceptibility genes could have a clinically significant impact reducing disease mortality.
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...
Recent studies based on genome-wide association, linkage, and admixture scan analysis have reported associations of various genetic variants in 8q24 with susceptibility to breast, prostate, colorectal cancer. This locus lies within a 1.18-Mb region that contains no known genes but is bounded at its centromeric end by FAM84B telomeric c-MYC, two candidate cancer genes. To investigate the specific loci cancers, we genotyped nine previously cancer-associated single-nucleotide polymorphisms...
Background Recent studies have shown that DNA methylation (DNAm) markers in peripheral blood may hold promise as diagnostic or early detection/risk for epithelial cancers. However, to date no study has evaluated the and predictive potential of such a large case control cohort on genome-wide basis. Principal Findings By performing DNAm profiling ovarian cancer cohort, we here demonstrate active significant impact pattern blood. Specifically, by measuring levels over 27,000 CpGs cells from 148...
Cytotoxic CD8+ tumor-infiltrating lymphocytes (TILs) participate in immune control of epithelial ovarian cancer; however, little is known about prognostic patterns TILs by histotype and relation to other clinical factors.
The aim of this study was to estimate the contribution deleterious mutations in RAD51B, RAD51C, and RAD51D genes invasive epithelial ovarian cancer (EOC) population a screening trial individuals at high risk cancer.
Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 ovarian (OC) risk. Several of these are also BC or OC for women who carry a pathogenic mutation in the high-risk genes BRCA1 BRCA2. The combined effects variants on BRCA2 carriers not yet been assessed while their clinical management could benefit from improved personalized estimates. We constructed polygenic scores (PRS) using susceptibility...
Whilst previous studies have reported that higher BMI increases a woman's risk of developing ovarian cancer, associations for the different histological subtypes not been well defined. As prevalence obesity has increased dramatically, and classification histology improved in last decade, we sought to examine association pooled analysis recent participating Ovarian Cancer Association Consortium. We evaluated between (recent, maximum young adulthood) cancer using original data from 15...
There are 5 major histotypes of ovarian carcinomas. Diagnostic typing criteria have evolved over time, and past cohorts may be misclassified by current standards. Our objective was to reclassify the recently assembled Canadian Ovarian Experimental Unified Resource Alberta Tumor Type using immunohistochemical (IHC) biomarkers develop an IHC algorithm for carcinoma histotyping. A total 1626 samples from were subjected a reclassification comparing original with predicted histotype. Histotype...
Abstract Breast, ovarian, and prostate cancers are hormone-related may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these totaling 112,349 cases 116,421 controls of European ancestry, all together in pairs, identified at P < 10−8 seven new cross-cancer loci: three associated with susceptibility to (rs17041869/2q13/BCL2L11;...
To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in
The cost-effectiveness of population-based panel testing for high- and moderate-penetrance ovarian cancer (OC)/breast (BC) gene mutations is unknown. We evaluate the BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 mutation compared with clinical criteria/family history (FH) in unselected general population women. A decision-analytic model comparing lifetime costs effects criteria/FH-based BRCA1/BRCA2 those fulfilling criteria/strong FH (≥10% probability) all women age 30 years or older. Analyses are...