IDENTIFICATION OF GENES IN INVOLVED IN THE PREDISPOSITION, INITIATION AND PROGRESSION OF BREAST AND OVARIAN CANCER
Grant number: 1041975 | Funding period: 2013 - 2018
Our knowledge of the number and nature of the genes involved in breast and ovarian cancer is limited. To rapidly define the critical breast and ovarian cancer-causing genes my laboratory uses an integrative genomics approach whereby information from several genome-wide platforms are combined. A key initiative that will underpin much of our work is Lifepool, which is a unique cohort of 100,000 Victorian women attending BreastScreen that will support a range of research into breast cancer.
Related publications (10)
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants
Belle WX Lim, Na Li, Sakshi Mahale, Simone M McInerny, Magnus Zethoven, Simone M Rowley, Joanne Huynh, Theresa Wang, Jue Er Amanda Lee, Mia Friedman, Lisa Devereux, Rodney J Scott, Erica K Sloan, Paul A James, Ian G Campbell
BACKGROUND: Breast cancers (BCs) that arise in individuals heterozygous for a germline pathogenic variant in a susceptibility gene..
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J Scott, Paul A James, Ian G Campbell
BACKGROUND: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. Large genomic rearrangements ..
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria
Paul A James, Cristina Fortuno, Na Li, Belle WX Lim, Ian G Campbell, Amanda B Spurdle
For genes with reliable estimates of disease risk associated with loss-of-function variants, case-control data can be used to esti..
Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer
Belle WX Lim, Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Magnus Zethoven, Rodney J Scott, Lisa Devereux, Erica K Sloan, Paul A James, Ian G Campbell
While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian c..
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study
Na Li, Belle WX Lim, Ella R Thompson, Simone McInerny, Magnus Zethoven, Dane Cheasley, Simone M Rowley, Michelle W Wong-Brown, Lisa Devereux, Kylie L Gorringe, Erica K Sloan, Alison Trainer, Rodney J Scott, Paul A James, Ian G Campbell
Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-r..
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutierrez-Enriquez, Alejandro Moles-Fernandez, Orland Diez, Tu Nguyen-Dumont, Melissa C Southey, John L Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K Schmidt, Muriel A Adank
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor s..
Genomic analysis of low-grade serous ovarian carcinoma to identify key drivers and therapeutic vulnerabilities
Dane Cheasley, Abhimanyu Nigam, Magnus Zethoven, Sally Hunter, Dariush Etemadmoghadam, Timothy Semple, Prue Allan, Mark S Carey, Marta L Fernandez, Amy Dawson, Martin Kobel, David G Huntsman, Cecile Le Page, Anne-Marie Mes-Masson, Diane Provencher, Neville Hacker, Yunkai Gao, David Bowtell, Anna deFazio, Kylie L Gorringe
Low-grade serous ovarian carcinoma (LGSOC) is associated with a poor response to existing chemotherapy, highlighting the need to p..
Mutations in RECQL are not associated with breast cancer risk in an Australian population
Na Li, Simone M Rowley, David L Goode, Kaushalya C Amarasinghe, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Richard Lupat, Jue Er Amanda Lee, Siobhan Hughes, Ella R Thompson, Magnus Zethoven, Jason Li, Alison H Trainer, Kylie L Gorringe, Rodney J Scott, Paul A James, Ian G Campbell
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs
Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell
BACKGROUND: Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated wit..
Monogenic and polygenic determinants of sarcoma risk: an international genetic study
Mandy L Ballinger, David L Goode, Isabelle Ray-Coquard, Paul A James, Gillian Mitchell, Eveline Niedermayr, Ajay Puri, Joshua D Schiffman, Gillian S Dite, Arcadi Cipponi, Robert G Maki, Andrew S Brohl, Ola Myklebost, Eva W Stratford, Susanne Lorenz, Sung-Min Ahn, Jin-Hee Ahn, Jeong Eun Kim, Sue Shanley, Victoria Beshay
BACKGROUND: Sarcomas are rare, phenotypically heterogeneous cancers that disproportionately affect the young. Outside rare syndrom..