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..
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..
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..