Grant number: IF-17-002 | Funding period: 2018 - 2022
Completed
D Aziz, N Portman, KJ Fernandez, C Lee, S Alexandrou, A Llop-Guevara, Z Phan, A Yong, A Wilkinson, CM Sergio, D Ferraro, D Etemadmoghadam, DD Bowtell, V Serra, P Waring, E Lim, CE Caldon
2021-12-01
Basal-like breast cancers (BLBC) are aggressive breast cancers that respond poorly to targeted therapies and chemotherapies. In or..
GP Risbridger, AK Clark, LH Porter, R Toivanen, A Bakshi, NL Lister, D Pook, CJ Pezaro, S Sandhu, S Keerthikumar, R Quezada Urban, M Papargiris, J Kraska, HB Madsen, H Wang, MG Richards, B Niranjan, S O’Dea, L Teng, W Wheelahan
Preclinical testing is a crucial step in evaluating cancer therapeutics. We aimed to establish a significant resource of patient-d..
E Darcey, N McCarthy, E Moses, C Saunders, G Cadby, J Stone
2021-08-01
Mammographic breast density (MBD) is a strong and highly heritable predictor of breast cancer risk and a biomarker for the disease..
JMB Pang, B Castles, DJ Byrne, P Button, S Hendry, SR Lakhani, V Sivasubramaniam, WA Cooper, J Armes, EKA Millar, W Raymond, S Roberts-Thomson, B Kumar, M Burr, C Selinger, K Harvey, C Chan, J Beith, D Clouston, SA O'Toole
SP142 programmed cell death ligand 1 (PD-L1) status predicts response to atezolizumab in triple-negative breast carcinoma (TNBC). ..
B Pal, Y Chen, F Vaillant, BD Capaldo, R Joyce, X Song, VL Bryant, JS Penington, L Di Stefano, N Tubau Ribera, S Wilcox, GB Mann, AT Papenfuss, GJ Lindeman, GK Smyth, JE Visvader
2021-06-01
To examine global changes in breast heterogeneity across different states, we determined the single-cell transcriptomes of > 340,0..
RJ MacInnis, JA Knight, WK Chung, RL Milne, AS Whittemore, R Buchsbaum, Y Liao, N Zeinomar, GS Dite, MC Southey, D Goldgar, GG Giles, AW Kurian, IL Andrulis, EM John, MB Daly, SS Buys, KA Phillips, JL Hopper, MB Terry
Background: Clinical guidelines often use predicted lifetime risk from birth to define criteria for making decisions regarding bre..
DG Evans, KA Phillips, RL Milne, R Fruscio, C Cybulski, J Gronwald, J Lubinski, T Huzarski, Z Hyder, C Forde, K Metcalfe, L Senter, J Weitzel, N Tung, D Zakalik, M Ekholm, P Sun, SA Narod, M Blasinska-Morawiec, M Chosia
2021-04-27
Background: The impact of various breast-cancer treatments on patients with a BRCA2 mutation has not been studied. We sought to es..
R Lozano, DC Salles, S Sandhu, IM Aragón, H Thorne, F López-Campos, J Rubio-Briones, AM Gutierrez-Pecharroman, L Maldonado, T di Domenico, A Sanz, JD Prieto, I García, MI Pacheco, T Garcés, C Llacer, N Romero-Laorden, F Zambrana, PP López-Casas, D Lorente
2021-04-01
Background: Intraductal (IDC) and cribriform (CRIB) histologies in prostate cancer have been associated with germline BRCA2 (gBRCA..
S Maguire, E Perraki, K Tomczyk, ME Jones, O Fletcher, M Pugh, T Winter, K Thompson, R Cooke, A Trainer, P James, S Bojesen, H Flyger, H Nevanlinna, J Mattson, E Friedman, Y Laitman, D Palli, G Masala, I Zanna
Background: The etiology of male breast cancer (MBC) is poorly understood. In particular, the extent to which the genetic basis of..
PM Kapoor, N Mavaddat, PP Choudhury, AN Wilcox, S Lindström, S Behrens, K Michailidou, J Dennis, MK Bolla, Q Wang, A Jung, Z Abu-Ful, T Ahearn, IL Andrulis, H Anton-Culver, V Arndt, KJ Aronson, PL Auer, LEB Freeman, H Becher
2021-03-01
We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for ..
PA Dugué, C Yu, T McKay, EM Wong, JE Joo, H Tsimiklis, F Hammet, M Mahmoodi, D Theys, null Kconfab, JL Hopper, GG Giles, RL Milne, JA Steen, JG Dowty, T Nguyen‐dumont, MC Southey
VTRNA2‐1 is a metastable epiallele with accumulating evidence that methylation at this region is heritable, modifiable and associa..
C MacDonald, D Mazza, M Hickey, M Hunter, LA Keogh, SC Jones, C Saunders, S Nesci, RL Milne, SA McLachlan, JL Hopper, ML Friedlander, J Emery, KA Phillips
2021-02-01
Background: This study examined why women and doctors screen for ovarian cancer (OC) contrary to guidelines. Methods: Surveys, bas..
E Tutty, P Horsley, R Forbes Shepherd, LE Forrest
Background: CASCADE is a successful, Australia-first cancer rapid autopsy programme. Patients are recruited to the programme by th..
Courtney Macdonald, Courtney Macdonald, Christobel M Saunders, Louise A Keogh, Morgan Hunter, Danielle Mazza, Sue-Anne McLachlan, Sandra C Jones, Stephanie Nesci, Michael L Friedlander, John L Hopper, Jon D Emery, Martha Hickey, Roger L Milne, Kelly-Anne Phillips, null Kathleen Cuningham Consortium for Research Into Familial Breast Cancer
2021-01-01
Guidelines endorse the use of chemoprevention for breast cancer risk reduction. This study examined the barriers and facilitators ..
M Escala-Garcia, J Abraham, IL Andrulis, H Anton-Culver, V Arndt, A Ashworth, PL Auer, P Auvinen, MW Beckmann, J Beesley, S Behrens, J Benitez, M Bermisheva, C Blomqvist, W Blot, NV Bogdanova, SE Bojesen, MK Bolla, AL Børresen-Dale, H Brauch
2020-12-01
Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-base..
TA Muranen, S Khan, R Fagerholm, K Aittomäki, JM Cunningham, J Dennis, G Leslie, L McGuffog, MT Parsons, J Simard, S Slager, P Soucy, DF Easton, M Tischkowitz, AB Spurdle, RK Schmutzler, B Wappenschmidt, E Hahnen, MJ Hooning, CF Singer
Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology..
X Yang, H Song, G Leslie, C Engel, E Hahnen, B Auber, J Horváth, K Kast, D Niederacher, C Turnbull, R Houlston, H Hanson, C Loveday, JS Dolinsky, H Laduca, SJ Ramus, U Menon, AN Rosenthal, I Jacobs, SA Gayther
Background: The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) ris..
DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, N Mavaddat, J Adlard, M Ahmed, K Aittomäki, N Andrieu, IL Andrulis, N Arnold, BK Arun, J Azzollini, J Balmaña, RB Barkardottir, D Barrowdale, J Benitez, P Berthet
2020-10-01
Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian c..
CA Mansfield, KA Metcalfe, C Snyder, GJ Lindeman, J Posner, S Friedman, HT Lynch, SA Narod, DG Evans, A Liede
2020-09-29
Background: Women with a BRCA1 or BRCA2 mutation have high lifetime risks of developing breast and ovarian cancer. The decision to..
V Silvestri, G Leslie, DR Barnes, BA Agnarsson, K Aittomäki, E Alducci, IL Andrulis, RB Barkardottir, A Barroso, D Barrowdale, J Benitez, B Bonanni, A Borg, SS Buys, T Caldés, MA Caligo, C Capalbo, I Campbell, WK Chung, KBM Claes
2020-08-01
Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the..
H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, TA O’Mara, N Zhao, MK Bolla, AM Dunning, J Dennis, Q Wang, ZA Ful, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, KJ Aronson, BK Arun
2020-06-01
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype<sup>1–3</sup>. To identify no..
RJ Macinnis, Y Liao, JA Knight, RL Milne, AS Whittemore, WK Chung, N Leoce, R Buchsbaum, N Zeinomar, GS Dite, MC Southey, D Goldgar, GG Giles, SA McLachlan, PC Weideman, S Nesci, ML Friedlander, G Glendon, IL Andrulis, EM John
2020-04-01
The performance of breast cancer risk models for women with a family history but negative BRCA1 and/or BRCA2 mutation test results..
X Yang, G Leslie, A Doroszuk, S Schneider, J Allen, B Decker, AM Dunning, J Redman, J Scarth, I Plaskocinska, C Luccarini, M Shah, K Pooley, L Dorling, A Leei, MA Adank, J Adlard, K Aittomäki, IL Andrulis, P Ang
2020-03-01
PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic,..
PJ Campbell, G Getz, JO Korbel, JM Stuart, JL Jennings, LD Stein, MD Perry, HK Nahal-Bose, BFF Ouellette, CH Li, E Rheinbay, GP Nielsen, DC Sgroi, CL Wu, WC Faquin, V Deshpande, PC Boutros, AJ Lazar, KA Hoadley, DN Louis
2020-02-06
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this v..
VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, S Agata, BA Agnarsson, M Ahmed, K Aittom, E Alducci, IL Andrulis, A Arason, N Arnold, G Artioli, B Arver, B Auber, J Azzollini, J Balmaña
2020-02-01
Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer...
N Mavaddat, AC Antoniou, TM Mooij, MJ Hooning, BA Heemskerk-Gerritsen, C Noguès, L Laborde, E Breysse, D Stoppa-Lyonnet, M Gauthier-Villars, B Buecher, O Caron, E Fourme-Mouret, JP Fricker, C Lasset, V Bonadona, P Berthet, L Faivre, E Luporsi, V Mari
2020-01-16
Background: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers i..
D Catchpoole, L Devereux, PH Watson, AM Mes-Masson, F Luna-Crespo, G Thomas, H Pitman, V Speirs, AG Hall, N Bollinger, M Posada, H Lochmüller, H Thorne, CB Eng, PHJ Riegman, W Ng, A Parry-Jones
2019-12-01
MA Ferreira, ER Gamazon, F Al-Ejeh, K Aittomäki, IL Andrulis, H Anton-Culver, A Arason, V Arndt, KJ Aronson, BK Arun, E Asseryanis, J Azzollini, J Balmaña, DR Barnes, D Barrowdale, MW Beckmann, S Behrens, J Benitez, M Bermisheva, K Białkowska
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that s..
EL Christie, S Pattnaik, J Beach, A Copeland, N Rashoo, S Fereday, J Hendley, K Alsop, SL Brady, G Lamb, A Pandey, A deFazio, H Thorne, A Bild, DDL Bowtell
ABCB1 encodes Multidrug Resistance protein (MDR1), an ATP-binding cassette member involved in the cellular efflux of chemotherapeu..
X Jiang, HK Finucane, FR Schumacher, SL Schmit, JP Tyrer, Y Han, K Michailidou, C Lesseur, KB Kuchenbaecker, J Dennis, DV Conti, G Casey, MM Gaudet, JR Huyghe, D Albanes, MC Aldrich, AS Andrew, IL Andrulis, H Anton-Culver, AC Antoniou
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
AL Winship, C Willson, KR Hansen, KJ Hutt, M Hickey
2019-11-01
Introduction BRCA1/2 gene mutations increase risk of breast and/or ovarian cancer and may have implications for reproductive healt..
MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, CM Aalfs, S Agata, K Aittomäki, E Alducci, MC Alonso-Cerezo, N Arnold, B Auber, R Austin, J Azzollini, J Balmaña, E Barbieri, CR Bartram, A Blanco, B Blümcke
2019-09-01
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for mu..
LH Porter, MG Lawrence, H Wang, AK Clark, A Bakshi, D Obinata, D Goode, M Papargiris, null Mural, D Clouston, A Ryan, S Norden, E Corey, PS Nelson, JT Isaacs, J Grummet, J Kourambas, S Sandhu, DG Murphy, D Pook
2019-08-01
Background: Serially transplantable patient-derived xenografts (PDXs) are invaluable preclinical models for studying tumor biology..
F Qian, MA Rookus, G Leslie, HA Risch, MH Greene, CM Aalfs, MA Adank, J Adlard, BA Agnarsson, M Ahmed, K Aittomäki, IL Andrulis, N Arnold, BK Arun, MGEM Ausems, J Azzollini, D Barrowdale, J Barwell, J Benitez, K Białkowska
2019-07-16
Background: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether..
N Zeinomar, KA Phillips, MB Daly, RL Milne, GS Dite, RJ MacInnis, Y Liao, RD Kehm, JA Knight, MC Southey, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, SS Buys, EM John
2019-07-15
Benign breast disease (BBD) is an established breast cancer (BC) risk factor, but it is unclear whether the magnitude of the assoc..
K Nones, J Johnson, F Newell, AM Patch, H Thorne, SH Kazakoff, XM de Luca, MT Parsons, K Ferguson, LE Reid, AE McCart Reed, S Srihari, V Lakis, AL Davidson, P Mukhopadhyay, O Holmes, Q Xu, S Wood, C Leonard, J Beesley
2019-07-01
Background: Whole-genome sequencing (WGS) is a powerful method for revealing the diversity and complexity of the somatic mutation ..
RD Kehm, JL Hopper, EM John, KA Phillips, RJ MacInnis, GS Dite, RL Milne, Y Liao, N Zeinomar, JA Knight, MC Southey, L Vahdat, N Kornhauser, T Cigler, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon
2019-04-18
Background: The use of aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) has been associated with reduced breast ca..
MB Terry, Y Liao, AS Whittemore, N Leoce, R Buchsbaum, N Zeinomar, GS Dite, WK Chung, JA Knight, MC Southey, RL Milne, D Goldgar, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, EM John
2019-04-01
Background: Independent validation is essential to justify use of models of breast cancer risk prediction and inform decisions abo..
M Escala-Garcia, Q Guo, T Dörk, S Canisius, R Keeman, J Dennis, J Beesley, J Lecarpentier, MK Bolla, Q Wang, J Abraham, IL Andrulis, H Anton-Culver, V Arndt, PL Auer, MW Beckmann, S Behrens, J Benitez, M Bermisheva, L Bernstein
2019-03-19
Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of wome..
MB Terry, MB Daly, KA Phillips, X Ma, N Zeinomar, N Leoce, GS Dite, RJ MacInnis, WK Chung, JA Knight, MC Southey, RL Milne, D Goldgar, GG Giles, PC Weideman, G Glendon, R Buchsbaum, IL Andrulis, EM John, SS Buys
2019-03-01
There remains debate about whether risk-reducing salpingo-oophorectomy (RRSO), which reduces ovarian cancer risk, also reduces bre..
JL Hopper, GS Dite, RJ MacInnis, Y Liao, N Zeinomar, JA Knight, MC Southey, RL Milne, WK Chung, GG Giles, JM Genkinger, SA McLachlan, ML Friedlander, AC Antoniou, PC Weideman, G Glendon, S Nesci, IL Andrulis, SS Buys, MB Daly
2018-11-03
Background: The association between body mass index (BMI) and risk of breast cancer depends on time of life, but it is unknown whe..
MG Lawrence, D Obinata, S Sandhu, LA Selth, SQ Wong, LH Porter, N Lister, D Pook, CJ Pezaro, DL Goode, RJ Rebello, AK Clark, M Papargiris, J Van Gramberg, AR Hanson, P Banks, H Wang, B Niranjan, S Keerthikumar, S Hedwards
2018-11-01
Background: The intractability of castration-resistant prostate cancer (CRPC) is exacerbated by tumour heterogeneity, including di..
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
MB Terry, Y Liao, K Kast, AC Antoniou, JA McDonald, TM Mooij, C Engel, C Nogues, B Buecher, V Mari, J Moretta-Serra, L Gladieff, E Luporsi, D Barrowdale, D Frost, A Henderson, C Brewer, DG Evans, D Eccles, J Cook
Background: Full-term pregnancy (FTP) is associated with a reduced breast cancer (BC) risk over time, but women are at increased B..
B Weigelt, R Bi, R Kumar, P Blecua, DL Mandelker, FC Geyer, F Pareja, PA James, FJ Couch, DM Eccles, F Blows, P Pharoah, A Li, P Selenica, RS Lim, G Jayakumaran, N Waddell, R Shen, L Norton, HY Wen
2018-09-01
Pathogenic germline variants in ataxia-telangiectasia mutated (ATM), a gene that plays a role in DNA damage response and cell cycl..
P Butow, M Price, J Coll, K Tucker, B Meiser, R Milne, J Wilson, L Heiniger, B Baylock, T Bullen, P Weideman, KA Phillips
2018-08-01
Objective: The possible impact of stress on cancer incidence remains controversial. We prospectively evaluated associations betwee..
R Glassey, M O’Connor, A Ives, C Saunders, SJ Hardcastle
Purpose: The aim of this study was to explore the influences on satisfaction with reconstructed breasts and intimacy following bil..
GP Risbridger, R Toivanen, RA Taylor
Prostate cancer remains a lethal disease. Preclinical cancer models that accurately represent the tumors of the patients they are ..
L Wu, W Shi, J Long, X Guo, K Michailidou, J Beesley, MK Bolla, XO Shu, Y Lu, Q Cai, F Al-Ejeh, E Rozali, Q Wang, J Dennis, B Li, C Zeng, H Feng, A Gusev, RT Barfield, IL Andrulis
2018-07-01
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relati..
P Savas, B Virassamy, C Ye, A Salim, CP Mintoff, F Caramia, R Salgado, DJ Byrne, ZL Teo, S Dushyanthen, A Byrne, L Wein, SJ Luen, C Poliness, SS Nightingale, AS Skandarajah, DE Gyorki, CM Thornton, PA Beavis, SB Fox
The quantity of tumor-infiltrating lymphocytes (TILs) in breast cancer (BC) is a robust prognostic factor for improved patient sur..
J Mateo, HH Cheng, H Beltran, D Dolling, W Xu, CC Pritchard, H Mossop, P Rescigno, R Perez-Lopez, V Sailer, M Kolinsky, A Balasopoulou, C Bertan, DM Nanus, ST Tagawa, H Thorne, B Montgomery, S Carreira, S Sandhu, MA Rubin
2018-05-01
Background: Germline DNA damage repair gene mutation (gDDRm) is found in >10% of metastatic prostate cancer (mPC). Their prognosti..
TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, E Olah, OI Olopade, AR Solano, SH Teo, M Thomassen, JN Weitzel, TL Chan, FJ Couch, DE Goldgar, TA Kruse, EI Palmero, SK Park, D Torres, EJ van Rensburg
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority o..
M Colombo, I Lòpez-Perolio, HD Meeks, L Caleca, MT Parsons, H Li, G De Vecchi, E Tudini, C Foglia, P Mondini, S Manoukian, R Behar, EBG Garcia, A Meindl, M Montagna, D Niederacher, AY Schmidt, L Varesco, B Wappenschmidt, MK Bolla
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains ..
T Nguyen-Dumont, ZL Teo, F Hammet, A Roberge, M Mahmoodi, H Tsimiklis, DJ Park, BJ Pope, A Lonie, MK Kapuscinski, K Mahmood, DE Goldgar, GG Giles, I Winship, JL Hopper, MC Southey
2018-02-08
Background: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in famili..
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..