Researcher

Professor Susan Ramus

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Biography

Professor Susan Ramus is an ovarian cancer researcher within the School of Women's and Children's Health, and a member of the Adult Cancer Program in the Lowy Cancer Research Centre. She leads the Molecular Oncology Group.

She was awarded a PhD from the University of Melbourne, Australia, developing methods of mutation detection. During a post-doctoral position at the University of Cambridge, UK, she studied the genetics of inherited ovarian...view more

Professor Susan Ramus is an ovarian cancer researcher within the School of Women's and Children's Health, and a member of the Adult Cancer Program in the Lowy Cancer Research Centre. She leads the Molecular Oncology Group.

She was awarded a PhD from the University of Melbourne, Australia, developing methods of mutation detection. During a post-doctoral position at the University of Cambridge, UK, she studied the genetics of inherited ovarian cancer and established projects on molecular pathology. On returning to the University of Melbourne, Australia, she performed somatic profiling of tumours from early onset breast cancers. She then moved to University College London, UK, to lead large-scale ovarian cancer genetic susceptibility studies. At the University of Southern California, USA, she led large consortium projects on both ovarian cancer genetic susceptibility and tumour profiling. She established and co-leads the Ovarian Tumour Tissue Analysis (OTTA) consortium and is on the steering committee of the Ovarian Cancer Association Consortium (OCAC). She now at the University of New South Wales as Professor of Molecular Oncology in the School of Women’s and Children’s Health.

Society Membership:

American Association for Cancer Research (AACR)

American Society of Human Genetics (ASHG)

Ovarian Tumor Tissue Analysis (OTTA) Consortium

Ovarian Cancer Association Consortium (OCAC)

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Professional Activities:

Joint lead of steering committee OTTA

Member of steering committee OCAC

Member of genotyping committee OCAC

Member of data access committee OCAC

Member of data access committee OTTA

Member of pathology working group CIMBA

Selected publications

25 key publications from the last 10 years.

1) Yang X, et al. Cancer risks associated with germline PALB2 pathogenic variants - an international study of 524 families. JCO. 2019

2) Meagher NS, et al. A combination of the immunohistochemical markers CK7 and SATB2 is highly sensitive and specific for distinguishing primary ovarian mucinous tumors from colorectal and appendiceal metastases. Mod Pathol. 2018

3) Meagher NS, et al. Does the primary site really matter? Profiling mucinous ovarian cancers of uncertain primary origin (MO-CUP) to personalise treatment and inform the design of clinical trials. Gynecol Oncol. 2018

4) Rambau PF, et al. Association of p16 expression with prognosis varies across ovarian carcinoma histotypes: an Ovarian Tumor Tissue Analysis consortium study. J Pathol Clin Res. 2018

5) Phelan CM, et al. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature Genetics. 2017

6) Goode et al. Dose-Response Association of CD8+ Tumor-Infiltrating Lymphocytes and Survival Time in High-Grade Serous Ovarian Cancer. JAMA Oncology. 2017

7) Dicks E*, Song H*, Ramus SJ* et al. Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. Oncotarget. 2017

8) Pharoah et al. PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations. JNCI. 2016

9) Lawrenson K, et al. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nature Communications. 2016

10) Rebbeck et al. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016

11) Kuchenbaecker KB, Ramus SJ* et al. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics. 2015

12) Leong et al. Efficient molecular subtype classification of high-grade serous ovarian cancer. J Pathol. 2015

13) Ramus SJ* et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. JNCI. 2015

14) Song H*, Dicks E*, Ramus SJ* et al. Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. JCO. 2015

15) Köbel M, et al. Evidence for a time-dependent association between FOLR1 expression and survival from ovarian carcinoma: implications for clinical testing. An Ovarian Tumour Tissue Analysis consortium study. Br J Cancer. 2014

16) Pharoah PD*, Tsai YY*, Ramus SJ* et al. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nature Genetics. 2013

17) Sieh W, et al. Hormone-receptor expression and ovarian cancer survival: an Ovarian Tumor Tissue Analysis consortium study. Lancet Oncology. 2013

18) Köbel M, et al. Biomarker-based ovarian carcinoma typing: a histologic investigation in the ovarian tumor tissue analysis consortium. Cancer Epidemiol Biomarkers Prev. 2013

19) Ramus SJ et al. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mut. 2012

20) Bolton K, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012

21) Ramus SJ et al. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. JNCI. 2011

22) Notaridou M, et al. Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. Int J Cancer. 2011

23) Southey M, et al. Morphological predictors of BRCA1 germline mutations in young women with breast cancer. Br J Cancer. 2011

24) Goode EL*, Chenevix-Trench G*, Hong H*, Ramus SJ* et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nature Genetics. 2010

25) Bolton K, et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nature Genetics. 2010


My Grants

Current

Cancer Australia 2018-2021
            The contribution of rare alleles to non high grade serous ovarian cancer.

Cancer Council NSW 2018-2020
             Moving towards personalised treatments for ovarian cancer.

Department of Defence 2016-2020
            Multidisciplinary Ovarian Cancer Outcomes Group (MOCOG).

Recently completed

National Institute of Health (NIH) USA 2014-2019
            Identifying prognostic markers and therapeutic targets for serous ovarian cancer.

National Institute of Health (NIH) 2014-2019
            The contribution of rare alleles to ovarian cancer in the population.

Rivkin Center for Ovarian Cancer Research. Pilot grant. 2018-2019
            Genetic susceptibility to non high grade serous ovarian cancer.

 


My Research Activities

The aim of my research program is to improve ovarian cancer risk prediction and prognosis, by using large international consortia that are adequately powered to have an impact for patients.

 

Improving risk prediction for ovarian cancer.

The aim is to identify women at increased risk of ovarian cancer before they develop the disease, by studying inherited changes in their DNA. We are identifying two types of changes.

1) Common variants

Finding large numbers of changes, each with a very small increased risk.

These changes are identified by performing Genome Wide Association Studies (GWAS) in large numbers of cases and controls from two international consortia. The Ovarian Cancer Association Consortium (OCAC) and Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

2) Rare variants

Finding changes that are rare in the population but have a moderate increased risk.

These changes are identified by performing whole exome sequencing (WES) and large-scale validation by targeted sequencing in large numbers of cases and controls. High grade serous ovarian cancer (HGSOC): We have screened 80 genes in up to 6,000 ovarian cancer cases and 6,000 unaffected controls. Non HGSOC: We have screened 32 genes in 2,000 ovarian cancer cases and 2,000 unaffected controls.

Improving prognosis for Ovarian Cancer

The aim is to identify markers that can group women with similar changes in their tumours and determine their prognosis. Being able to predict how well a woman may respond to current treatments may identify a group of women who need alternative treatments. These studies are performed through the Ovarian Tumour Tissue Analysis (OTTA) Consortium.

1) Validation of prognostic markers by immunohistochemistry (IHC)

Analysis of individual biomarkers using large scale centralised staining and scoring of tissue microarrays (TMA).

2) Identifying new prognostic markers for HGSOC

Large scale genomic analysis of formalin fixed paraffin embedded (FFPE) tumours using the latest technologies such as NanoString RNA expression, screening for somatic mutations using TamSeq and DNA copy number using shallow whole genome sequencing (sWGS).

 


My Research Supervision


Areas of supervision

Genetics and Genomics of Ovarian Cancer


Currently supervising

Two PhD students

Marina Pavenello “The contribution of rare alleles to non-high grade serous ovarian cancer”

Nicki Meagher “Unravelling mucinous tumours of the ovary and intestinal tract: diagnosis, classification and molecular profiling”

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Location

School of Women's and Children's Health
Adult Cancer Program
Level 2, Lowy Cancer Research Centre
Cnr High and Botany St, UNSW


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Contact

(02) 9385 1720