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Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

BWX Lim, N Li, S Mahale, S McInerny, M Zethoven, SM Rowley, J Huynh, T Wang, JEA Lee, M Friedman, L Devereux, RJ Scott, EK Sloan, PA James, IG Campbell

2023-02-01

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

Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

BWX Lim, N Li, SM Rowley, ER Thompson, S McInerny, M Zethoven, RJ Scott, L Devereux, EK Sloan, PA James, IG Campbell

2022-12-01

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

Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria

PA James, C Fortuno, N Li, BWX Lim, IG Campbell, AB Spurdle

2022-07-01

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

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: Implications for genetic testing

N Li, M Zethoven, S McInerny, E Healey, D Desilva, L Devereux, RJ Scott, PA James, IG Campbell

2022-04-08

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

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

N Li, M Zethoven, S McInerny, L Devereux, YK Huang, N Thio, D Cheasley, S Gutiérrez-Enríquez, A Moles-Fernández, O Diez, T Nguyen-Dumont, MC Southey, JL Hopper, J Simard, M Dumont, P Soucy, A Meindl, R Schmutzler, MK Schmidt, MA Adank

2021-12-01

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

Factors involved in treatment decision making for women diagnosed with ductal carcinoma in situ: A qualitative study

A Hatton, N Heriot, J Zalcberg, D Ayton, J Evans, D Roder, BH Chua, J Hersch, J Lippey, J Fox, C Saunders, GB Mann, J Synnot, RJ Bell

2021-12-01

Whilst some of the diversity in management of women with ductal carcinoma in situ (DCIS) may be explained by tumour characteristic..

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study

N Li, BWX Lim, ER Thompson, S McInerny, M Zethoven, D Cheasley, SM Rowley, MW Wong-Brown, L Devereux, KL Gorringe, EK Sloan, A Trainer, RJ Scott, PA James, IG Campbell

2021-12-01

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

Exploring implementation of personal breast cancer risk assessments

MA Sierra, JCW Wheeler, L Devereux, AH Trainer, L Keogh

2021-10-01

Personal Breast Cancer (BC) Risk Assessments (PBCRA) have potential to stratify women into clinically-actionable BC risk categorie..

The TP53 mutation rate differs in breast cancers that arise in women with high or low mammographic density

D Cheasley, L Devereux, S Hughes, C Nickson, P Procopio, G Lee, N Li, V Pridmore, K Elder, G Bruce Mann, T Kader, SM Rowley, SB Fox, D Byrne, H Saunders, KM Fujihara, B Lim, KL Gorringe, IG Campbell

2020-12-01

Mammographic density (MD) influences breast cancer risk, but how this is mediated is unknown. Molecular differences between breast..

Measurement challenge: Protocol for international case-control comparison of mammographic measures that predict breast cancer risk

E Dench, D Bond-Smith, E Darcey, G Lee, YK Aung, A Chan, J Cuzick, ZY Ding, CF Evans, J Harvey, R Highnam, MK Hsieh, D Kontos, S Li, S Mariapun, C Nickson, TL Nguyen, S Pertuz, P Procopio, N Rajaram

2019-12-31

Introduction: For women of the same age and body mass index, increased mammographic density is one of the strongest predictors of ..

Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer

N Li, S McInerny, M Zethoven, D Cheasley, BWX Lim, SM Rowley, L Devereux, N Grewal, S Ahmadloo, D Byrne, JE Amanda Lee, J Li, SB Fox, T John, Y Antill, KL Gorringe, PA James, IG Campbell

2019-12-01

Background: Loss-of-function variants in RAD51C are associated with familial ovarian cancer, but its role in hereditary breast can..

Valuing preferences for treating screen detected ductal carcinoma in situ

HL Bromley, GB Mann, D Petrie, C Nickson, D Rea, TE Roberts

2019-12-01

Background: Mammographic screening reduces breast cancer mortality but may lead to the overdiagnosis and overtreatment of low-risk..

A natural progression": Australian women's attitudes about an individualized breast screening model

J Lippey, LA Keogh, G Bruce Mann, IG Campbell, LE Forrest

2019-06-01

Individualized screening is our logical next step to improve population breast cancer screening in Australia. To explore breast sc..

Prospective validation of the NCI Breast Cancer Risk Assessment Tool (Gail Model) on 40,000 Australian women

C Nickson, P Procopio, LS Velentzis, S Carr, L Devereux, GB Mann, P James, G Lee, C Wellard, I Campbell

2018-12-20

Background: There is a growing interest in delivering more personalised, risk-based breast cancer screening protocols. This requir..

Mutations in RECQL are not associated with breast cancer risk in an Australian population

N Li, SM Rowley, DL Goode, KC Amarasinghe, S McInerny, L Devereux, MW Wong-Brown, R Lupat, JEA Lee, S Hughes, ER Thompson, M Zethoven, J Li, AH Trainer, KL Gorringe, RJ Scott, PA James, IG Campbell

2018-10-01

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

N Li, SM Rowley, ER Thompson, S McInerny, L Devereux, KC Amarasinghe, M Zethoven, R Lupat, D Goode, J Li, AH Trainer, KL Gorringe, PA James, IG Campbell

2018-01-09

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

Copy number analysis by low coverage whole genome sequencing using ultra low-input DNA from formalin-fixed paraffin embedded tumor tissue

T Kader, DL Goode, SQ Wong, J Connaughton, SM Rowley, L Devereux, D Byrne, SB Fox, G Mir Arnau, RW Tothill, IG Campbell, KL Gorringe

2016-11-15

Unlocking clinically translatable genomic information, including copy number alterations (CNA), from formalin-fixed paraffin-embed..

Reevaluation of RINT1 as a breast cancer predisposition gene

N Li, ER Thompson, SM Rowley, S McInerny, L Devereux, D Goode, LP Investigators, MW Wong-Brown, RJ Scott, AH Trainer, KL Gorringe, PA James, IG Campbell

2016-09-01

Rad50 interactor 1 (RINT1) has recently been reported as an intermediate-penetrance (odds ratio 3.24) breast cancer susceptibility..

Minimal residual disease in breast cancer: an overview of circulating and disseminated tumour cells

A Tachtsidis, LM McInnes, N Jacobsen, EW Thompson, CM Saunders

2016-08-01

Within the field of cancer research, focus on the study of minimal residual disease (MRD) in the context of carcinoma has grown ex..

Panel testing for familial breast cancer: Calibrating the tension between research and clinical care

ER Thompson, SM Rowley, N Li, S McInerny, L Devereux, MW Wong-Brown, AH Trainer, G Mitchell, RJ Scott, PA James, IG Campbell

2016-05-01

Purpose Gene panel sequencing is revolutionizing germline risk assessment for hereditary breast cancer. Despite scant evidence sup..

Clinically significant germline mutations in cancer-causing genes identified through research studies should be offered to research participants by genetic counselors

LE Forrest, MA Young

2016-03-20

Reevaluation of the BRCA2 truncating allele c.9976A >t (p.Lys3326Ter) in a familial breast cancer context

ER Thompson, KL Gorringe, SM Rowley, N Li, S McInerny, MW Wong-Brown, L Devereux, J Li, AH Trainer, G Mitchell, RJ Scott, PA James, IG Campbell, J Hopper, V Pridmore, A Kavanagh, B Mann, S Fox

2015-10-12

The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an..

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

ER Thompson, KL Gorringe, SM Rowley, MW Wong-Brown, S McInerny, N Li, AH Trainer, L Devereux, MA Doyle, J Li, R Lupat, MB Delatycki, G Mitchell, PA James, RJ Scott, IG Campbell

2015-08-19

Introduction: PALB2 is emerging as a high-penetrance breast cancer predisposition gene in the order of BRCA1 and BRCA2. However, l..