IDENTIFICATION OF GENES IN INVOLVED IN THE PREDISPOSITION, INITIATION AND PROGRESSION OF BREAST AND OVARIAN CANCER

Grant number: 1041975 | Funding period: 2013 - 2018

Completed

Abstract

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)

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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

2022-10-31

BACKGROUND: Breast cancers (BCs) that arise in individuals heterozygous for a germline pathogenic variant in a susceptibility gene..

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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

2022-04-07

BACKGROUND: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. Large genomic rearrangements ..

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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

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For genes with reliable estimates of disease risk associated with loss-of-function variants, case-control data can be used to esti..

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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

2022-01-17

While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian c..

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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

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Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-r..

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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

2021-05-12

Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor s..

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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

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Low-grade serous ovarian carcinoma (LGSOC) is associated with a poor response to existing chemotherapy, highlighting the need to p..

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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

2018-10-01

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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

2018-01-09

BACKGROUND: Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated wit..

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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

2016-09-01

BACKGROUND: Sarcomas are rare, phenotypically heterogeneous cancers that disproportionately affect the young. Outside rare syndrom..