Grant number: IF-12-06 | Funding period: 2013 - 2017
Completed
DR Barnes, V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang, J Adlard, BA Agnarsson, M Ahmed, K Aittomaki, IL Andrulis, A Arason, N Arnold, B Auber, J Azzollini, J Balmana, RB Barkardottir, D Barrowdale, J Barwell, M Belotti
2022-01-01
Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We a..
J Coignard, M Lush, J Beesley, TA O’Mara, J Dennis, JP Tyrer, DR Barnes, L McGuffog, G Leslie, MK Bolla, MA Adank, S Agata, T Ahearn, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, N Arnold, KJ Aronson, BK Arun
2021-12-01
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants hav..
L Dorling, S Carvalho, J Allen, A González-Neira, C Luccarini, C Wahlström, KA Pooley, MT Parsons, C Fortuno, Q Wang, MK Bolla, J Dennis, R Keeman, MR Alonso, N Álvarez, B Herraez, V Fernandez, R Núñez-Torres, A Osorio, J Valcich
2021-02-04
BACKGROUND Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with br..
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..
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
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..
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..
LH Porter, K Hashimoto, MG Lawrence, C Pezaro, D Clouston, H Wang, M Papargiris, H Thorne, J Li, A Ryan, S Norden, D Moon, DM Bolton, S Sengupta, M Frydenberg, DG Murphy, GP Risbridger, RA Taylor
2018-06-01
Objective: To determine the relevance of intraductal carcinoma of the prostate (IDC-P) in advanced prostate cancer by first examin..
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..
R Glassey, M O'Connor, A Ives, C Saunders, SJ Hardcastle
2018-02-01
Objective: The objective of this study was to explore the influences on decision-making of younger women (<35) undergoing or consi..
R Glassey, SJ Hardcastle, M O'Connor, A Ives, C Saunders
Objective: This study explored whether psychological consultation offered to women prior to bilateral prophylactic mastectomy (BPM..
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..
R Glassey, M O’Connor, A Ives, C Saunders, S O’Sullivan, SJ Hardcastle
2018-01-01
The objective of this study was to explore the factors that influence perceived personal risk of developing breast cancer (BC) in ..
Q Guo, S Burgess, C Turman, MK Bolla, Q Wang, M Lush, J Abraham, K Aittomäki, IL Andrulis, C Apicella, V Arndt, M Barrdahl, J Benitez, CD Berg, C Blomqvist, SE Bojesen, B Bonanni, JS Brand, H Brenner, A Broeks
2017-12-01
Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with br..
RL Milne, KB Kuchenbaecker, K Michailidou, J Beesley, S Kar, S Lindström, S Hui, A Lemaçon, P Soucy, J Dennis, X Jiang, A Rostamianfar, H Finucane, MK Bolla, L McGuffog, Q Wang, CM Aalfs, I Abctctb, M Adams, J Adlard
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predomina..
O Brouckaert, A Rudolph, A Laenen, R Keeman, MK Bolla, Q Wang, A Soubry, H Wildiers, IL Andrulis, V Arndt, MW Beckmann, J Benitez, C Blomqvist, SE Bojesen, H Brauch, P Brennan, H Brenner, G Chenevix-Trench, JY Choi, S Cornelissen
2017-11-07
Background: Previous studies have shown that reproductive factors are differentially associated with breast cancer (BC) risk by su..
K Michailidou, S Lindström, J Dennis, J Beesley, S Hui, S Kar, A Lemaçon, P Soucy, D Glubb, A Rostamianfar, MK Bolla, Q Wang, J Tyrer, E Dicks, A Lee, Z Wang, J Allen, R Keeman, U Eilber, JD French
2017-11-02
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-codin..
M Barrdahl, A Rudolph, JL Hopper, MC Southey, A Broeks, PA Fasching, MW Beckmann, M Gago-Dominguez, JE Castelao, P Guénel, T Truong, SE Bojesen, SM Gapstur, MM Gaudet, H Brenner, V Arndt, H Brauch, U Hamann, A Mannermaa, D Lambrechts
2017-11-01
Investigating the most likely causal variants identified by fine-mapping analyses may improve the power to detect gene–environment..
YC Lee, M Bressel, P Grant, P Russell, C Smith, S Picken, S Camm, BE Kiely, RL Milne, SA McLachlan, M Hickey, ML Friedlander, JL Hopper, KA Phillips
2017-10-01
Objectives: The quality of risk-reducing salpingo-oophorectomy (RRSO) performed in Australasian women was previously reported to b..
E Nolan, F Vaillant, JE Visvader, GJ Lindeman
YC Lee, RL Milne, S Lheureux, M Friedlander, SA McLachlan, KL Martin, MQ Bernardini, C Smith, S Picken, S Nesci, JL Hopper, KA Phillips
Background Whether BRCA1 and BRCA2 mutation carriers have a clinically relevant elevated risk of uterine cancer has implications f..
S Deb, KL Gorringe, JMB Pang, DJ Byrne, EA Takano, CF Investigators, A Dobrovic, SB Fox
2017-09-11
Background: Male breast cancer (MBC) represents a poorly characterised group of tumours, the management of which is largely based ..
A Liede, CA Mansfield, KA Metcalfe, MA Price, C Snyder, HT Lynch, S Friedman, J Amelio, J Posner, SA Narod, GJ Lindeman, DG Evans
2017-09-01
Purpose: Unaffected women who carry BRCA1 or BRCA2 mutations face difficult choices about reducing their breast cancer risk. Under..
J Lecarpentier, KB Kuchenbaecker, D Barrowdale, J Dennis, L McGuffog, G Leslie, A Lee, AA Al Olama, JP Tyrer, D Frost, S Ellis, DF Easton, AC Antoniou, M Tischkowitz, DG Evans, A Henderson, C Brewer, D Eccles, J Cook, KR Ong
2017-07-10
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for ..
KB Kuchenbaecker, L McGuffog, D Barrowdale, A Lee, P Soucy, J Dennis, SM Domchek, M Robson, AB Spurdle, SJ Ramus, N Mavaddat, MB Terry, SL Neuhausen, RK Schmutzler, J Simard, PDP Pharoah, K Offit, FJ Couch, G Chenevix-Trench, DF Easton
2017-07-01
Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated wit..
KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, MJ Roos-Blom, S Jervis, FE van Leeuwen, RL Milne, N Andrieu, DE Goldgar, MB Terry, MA Rookus, DF Easton, AC Antoniou, L McGuffog, DG Evans, D Barrowdale, D Frost, J Adlard
2017-06-20
IMPORTANCE The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. OBJE..
E Nolan, P Savas, AN Policheni, PK Darcy, F Vaillant, CP Mintoff, S Dushyanthen, M Mansour, JMB Pang, SB Fox, CM Perou, JE Visvader, DHD Gray, S Loi, GJ Lindeman
2017-06-07
Immune checkpoint inhibitors have emerged as a potent new class of anticancer therapy. They have changed the treatment landscape f..
H Shimelis, RLS Mesman, C Von Nicolai, A Ehlen, L Guidugli, C Martin, FMGR Calléja, H Meeks, E Hallberg, J Hinton, J Lilyquist, C Hu, CM Aalfs, K Aittomäki, I Andrulis, H Anton-Culver, V Arndt, MW Beckmann, J Benitez, NV Bogdanova
2017-06-01
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of un..
FR Day, DJ Thompson, H Helgason, DI Chasman, H Finucane, P Sulem, KS Ruth, S Whalen, AK Sarkar, E Albrecht, E Altmaier, M Amini, CM Barbieri, T Boutin, A Campbell, E Demerath, A Giri, C He, JJ Hottenga, R Karlsson
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Usin..
TA Muranen, D Greco, C Blomqvist, K Aittomäki, S Khan, F Hogervorst, S Verhoef, PDP Pharoah, AM Dunning, M Shah, R Luben, SE Bojesen, BG Nordestgaard, M Schoemaker, A Swerdlow, M García-Closas, J Figueroa, T Dörk, NV Bogdanova, P Hall
2017-05-01
Purpose:CHEK2∗1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast canc..
GS Dite, RJ MacInnis, A Bickerstaffe, JG Dowty, RL Milne, AC Antoniou, P Weideman, C Apicella, GG Giles, MC Southey, MA Jenkins, KA Phillips, A Ko Win, MB Terry, JL Hopper
2017-03-15
The ability to classify people according to their underlying genetic susceptibility to a disease is increasing with new knowledge,..
E Nolan, GJ Lindeman, JE Visvader
2017-02-01
Beyond prophylactic mastectomy, there are currently very few options available to BRCA1 mutation carriers to help reduce their ris..
S Tesson, I Richards, D Porter, KA Phillips, N Rankin, D Costa, T Musiello, M Marven, P Butow
Objectives Contralateral prophylactic mastectomy (CPM) reduces the risk of contralateral breast cancer (BC) following unilateral B..
R Glassey, C Saunders, SJ Hardcastle
2017-01-31
RA Taylor, M Fraser, J Livingstone, SMG Espiritu, H Thorne, V Huang, W Lo, YJ Shiah, TN Yamaguchi, A Sliwinski, S Horsburgh, A Meng, LE Heisler, N Yu, F Yousif, M Papargiris, MG Lawrence, L Timms, DG Murphy, M Frydenberg
2017-01-09
Germline mutations in the BRCA2 tumour suppressor are associated with both an increased lifetime risk of developing prostate cance..
Y Hamdi, P Soucy, KB Kuchenbaeker, T Pastinen, A Droit, A Lemaçon, J Adlard, K Aittomäki, IL Andrulis, A Arason, N Arnold, BK Arun, J Azzollini, A Bane, L Barjhoux, D Barrowdale, J Benitez, P Berthet, MJ Blok, K Bobolis
2017-01-01
Purpose: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenot..
H Li, B Feng, A Miron, X Chen, J Beesley, E Bimeh, D Barrowdale, EM John, MB Daly, IL Andrulis, SS Buys, P Kraft, H Thorne, G Chenevix-Trench, MC Southey, AC Antoniou, PA James, MB Terry, KA Phillips, JL Hopper
Purpose:This study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-Associated brea..
R Fagerholm, S Khan, MK Schmidt, M García-Closas, P Heikkilä, J Saarela, J Beesley, M Jamshidi, K Aittomäki, J Liu, HR Ali, IL Andrulis, MW Beckmann, S Behrens, FM Blows, H Brenner, J Chang-Claude, FJ Couch, K Czene, PA Fasching
TP53 overexpression is indicative of somatic TP53 mutations and associates with aggressive tumors and poor prognosis in breast can..
MC Southey, DE Goldgar, R Winqvist, K Pylkäs, F Couch, M Tischkowitz, WD Foulkes, J Dennis, K Michailidou, EJ van Rensburg, T Heikkinen, H Nevanlinna, JL Hopper, T Dörk, KBM Claes, J Reis-Filho, ZL Teo, P Radice, I Catucci, P Peterlongo
2016-12-01
Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Popula..
J Liu, I Loncar, JM Colleé, MK Bolla, J Dennis, K Michailidou, Q Wang, IL Andrulis, M Barile, MW Beckmann, S Behrens, J Benitez, C Blomqvist, B Boeckx, NV Bogdanova, SE Bojesen, H Brauch, P Brennan, H Brenner, A Broeks
2016-11-15
NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a mi..
TR Rebbeck, TM Friebel, N Mitra, F Wan, S Chen, IL Andrulis, P Apostolou, N Arnold, BK Arun, D Barrowdale, J Benitez, R Berger, P Berthet, A Borg, SS Buys, T Caldes, J Carter, J Chiquette, KBM Claes, FJ Couch
2016-11-11
Background: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who hav..
I Catucci, P Radice, RL Milne, FJ Couch, MC Southey, P Peterlongo
2016-11-09
M Ghoussaini, JD French, K Michailidou, S Nord, J Beesley, S Canisus, KM Hillman, S Kaufmann, H Sivakumaran, M Moradi Marjaneh, JS Lee, J Dennis, MK Bolla, Q Wang, E Dicks, RL Milne, JL Hopper, MC Southey, MK Schmidt, A Broeks
2016-10-06
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p..
K Lawrenson, S Kar, K McCue, K Kuchenbaeker, K Michailidou, J Tyrer, J Beesley, SJ Ramus, Q Li, MK Delgado, JM Lee, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, BK Arun, B Arver, EV Bandera, M Barile, RB Barkardottir
2016-09-07
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46..
A Wyszynski, CC Hong, K Lam, K Michailidou, C Lytle, S Yao, Y Zhang, MK Bolla, Q Wang, J Dennis, JL Hopper, MC Southey, MK Schmidt, A Broeks, K Muir, A Lophatananon, PA Fasching, MW Beckmann, J Peto, I dos Santos-Silva
2016-09-01
Breast cancer is themost diagnosedmalignancy and the second leading cause of cancermortality in females. Previous association stud..
SP Kar, J Beesley, AA Al Olama, K Michailidou, J Tyrer, ZA Kote-Jarai, K Lawrenson, S Lindstrom, SJ Ramus, DJ Thompson, AS Kibel, A Dansonka-Mieszkowska, A Michael, AK Dieffenbach, A Gentry-Maharaj, AS Whittemore, A Wolk, A Monteiro, A Peixoto, A Kierzek
Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated ..
ML Ballinger, DL Goode, I Ray-Coquard, PA James, G Mitchell, E Niedermayr, A Puri, JD Schiffman, GS Dite, A Cipponi, RG Maki, AS Brohl, O Myklebost, EW Stratford, S Lorenz, SM Ahn, JH Ahn, JE Kim, S Shanley, V Beshay
Background Sarcomas are rare, phenotypically heterogeneous cancers that disproportionately affect the young. Outside rare syndrome..
MK Schmidt, F Hogervorst, R Van Hien, S Cornelissen, A Broeks, MA Adank, H Meijers, Q Waisfisz, A Hollestelle, M Schutte, A Van Den Ouweland, M Hooning, IL Andrulis, H Anton-Culver, NN Antonenkova, AC Antoniou, V Arndt, M Bermisheva, NV Bogdanova, MK Bolla
2016-08-10
Purpose CHEK2∗1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, t..
R Glassey, A Ives, C Saunders, T Musiello
2016-08-01
A bilateral prophylactic, or preventative, mastectomy (BPM) for women at high risk of developing breast cancer (BC) can reduce the..
HN Horne, CC Chung, H Zhang, K Yu, L Prokunina-Olsson, K Michailidou, MK Bolla, Q Wang, J Dennis, JL Hopper, MC Southey, MK Schmidt, A Broeks, K Muir, A Lophatananon, PA Fasching, MW Beckmann, O Fletcher, N Johnson, EJ Sawyer
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymo..
Y Guo, S Warren Andersen, XO Shu, K Michailidou, MK Bolla, Q Wang, M Garcia-Closas, RL Milne, MK Schmidt, J Chang-Claude, A Dunning, SE Bojesen, H Ahsan, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, MW Beckmann, A Beeghly-Fadiel, J Benitez
Background: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of ..
A Tachtsidis, LM McInnes, N Jacobsen, EW Thompson, CM Saunders
Within the field of cancer research, focus on the study of minimal residual disease (MRD) in the context of carcinoma has grown ex..
E Nolan, F Vaillant, D Branstetter, B Pal, G Giner, L Whitehead, SW Lok, GB Mann, K Rohrbach, LY Huang, R Soriano, GK Smyth, WC Dougall, JE Visvader, GJ Lindeman
Individuals who have mutations in the breast-cancer-susceptibility gene BRCA1 (hereafter referred to as BRCA1-mutation carriers) f..
E Vigorito, KB Kuchenbaecker, J Beesley, J Adlard, BA Agnarsson, IL Andrulis, BK Arun, L Barjhoux, M Belotti, J Benitez, A Berger, A Bojesen, B Bonanni, C Brewer, T Caldes, MA Caligo, I Campbell, SB Chan, KBM Claes, DE Cohn
2016-07-01
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also..
MB Terry, KA Phillips, MB Daly, EM John, IL Andrulis, SS Buys, DE Goldgar, JA Knight, AS Whittemore, WK Chung, C Apicella, JL Hopper
2016-06-01
M de la Hoya, O Soukarieh, I López-Perolio, A Vega, LC Walker, Y van Ierland, D Baralle, M Santamariña, V Lattimore, J Wijnen, P Whiley, A Blanco, M Raponi, J Hauke, B Wappenschmidt, A Becker, TVO Hansen, R Behar, null KConFaB Investigators, D Niederacher
A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A>C (IVS9-..
EL Young, BJ Feng, AW Stark, F Damiola, G Durand, N Forey, TC Francy, A Gammon, WK Kohlmann, KA Kaphingst, S McKay-Chopin, T Nguyen-Dumont, J Oliver, AM Paquette, M Pertesi, N Robinot, JS Rosenthal, M Vallee, C Voegele, JL Hopper
Background Moderate-risk genes have not been extensively studied, and missense substitutions in them are generally returned to pat..
KA Phillips, IM Collins, RL Milne, SA McLachlan, M Friedlander, M Hickey, C Stern, JL Hopper, R Fisher, G Kannemeyer, S Picken, CD Smith, TW Kelsey, RA Anderson
2016-05-01
STUDY QUESTION: Do women with BRCA1 or BRCA2 mutations have reduced ovarian reserve, as measured by circulating anti-Müllerian hor..
KS Purrington, DW Visscher, C Wang, D Yannoukakos, U Hamann, H Nevanlinna, A Cox, GG Giles, JE Eckel-Passow, S Lakis, V Kotoula, G Fountzilas, M Kabisch, T Rüdiger, P Heikkilä, C Blomqvist, SS Cross, MC Southey, JE Olson, J Gilbert
Distinct subtypes of triple negative (TN) breast cancer have been identified by tumor expression profiling. However, little is kno..
A Hollestelle, FH Van Der Baan, A Berchuck, SE Johnatty, KK Aben, BA Agnarsson, K Aittomäki, E Alducci, IL Andrulis, H Anton-Culver, NN Antonenkova, AC Antoniou, C Apicella, V Arndt, N Arnold, BK Arun, B Arver, A Ashworth, L Baglietto, R Balleine
Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microR..
FJ Couch, KB Kuchenbaecker, K Michailidou, GA Mendoza-Fandino, S Nord, J Lilyquist, C Olswold, E Hallberg, S Agata, H Ahsan, K Aittomäki, C Ambrosone, IL Andrulis, H Anton-Culver, V Arndt, BK Arun, B Arver, M Barile, RB Barkardottir, D Barrowdale
2016-04-27
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<..
AM Dunning, K Michailidou, KB Kuchenbaecker, D Thompson, JD French, J Beesley, CS Healey, S Kar, KA Pooley, E Lopez-Knowles, E Dicks, D Barrowdale, NA Sinnott-Armstrong, RC Sallari, KM Hillman, S Kaufmann, H Sivakumaran, MM Marjaneh, JS Lee, M Hills
2016-03-29
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three inte..
SM Hunter, SM Rowley, D Clouston, J Li, R Lupat, N Krishnananthan, G Risbridger, R Taylor, D Bolton, IG Campbell, H Thorne
2016-03-01
Copyright © 2016 Elsevier Inc. All rights reserved. CONCLUSIONS: In all, 10 truncating or missense variants showed either complete..
DF Easton, F Lesueur, B Decker, K Michailidou, J Li, J Allen, C Luccarini, KA Pooley, M Shah, MK Bolla, Q Wang, J Dennis, J Ahmad, ER Thompson, F Damiola, M Pertesi, C Voegele, N Mebirouk, N Robinot, G Durand
2016-02-26
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group fami..
C Petridis, MN Brook, V Shah, K Kohut, P Gorman, M Caneppele, D Levi, E Papouli, N Orr, A Cox, SS Cross, I dos-Santos-Silva, J Peto, A Swerdlow, MJ Schoemaker, MK Bolla, Q Wang, J Dennis, K Michailidou, J Benitez
2016-02-17
Background: Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal c..
V Silvestri, D Barrowdale, AM Mulligan, SL Neuhausen, S Fox, BY Karlan, G Mitchell, P James, DL Thull, KK Zorn, NJ Carter, KL Nathanson, SM Domchek, TR Rebbeck, SJ Ramus, RL Nussbaum, OI Olopade, J Rantala, SY Yoon, MA Caligo
2016-02-09
Background: BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, onl..
H Sung, M Garcia-Closas, J Chang-Claude, FM Blows, HR Ali, J Figueroa, H Nevanlinna, R Fagerholm, P Heikkilä, C Blomqvist, GG Giles, RL Milne, MC Southey, C McLean, A Mannermaa, VM Kosma, V Kataja, R Sironen, FJ Couch, JE Olson
2016-02-02
Background:Luminal A breast cancer defined as hormone receptor positive and human epidermal growth factor receptor 2 (HER2) negati..
HD Meeks, H Song, K Michailidou, MK Bolla, J Dennis, Q Wang, D Barrowdale, D Frost, L McGuffog, S Ellis, B Feng, SS Buys, JL Hopper, MC Southey, A Tesoriero, PA James, F Bruinsma, IG Campbell, A Broeks, MK Schmidt
2016-02-01
Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increase..
GS Dite, RJ Macinnis, A Bickerstaffe, JG Dowty, R Allman, C Apicella, RL Milne, H Tsimiklis, KA Phillips, GG Giles, MB Terry, MC Southey, JL Hopper
Background: The extent to which clinical breast cancer risk prediction models can be improved by including information on known su..
Y Hamdi, P Soucy, V Adoue, K Michailidou, S Canisius, A Lemaçon, A Droit, IL Andrulis, H Anton-Culver, V Arndt, C Baynes, C Blomqvist, NV Bogdanova, SE Bojesen, MK Bolla, B Bonanni, AL Borresen-Dale, JS Brand, H Brauch, H Brenner
2016-01-01
There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-ac..
J Shi, Y Zhang, W Zheng, K Michailidou, M Ghoussaini, MK Bolla, Q Wang, J Dennis, M Lush, RL Milne, XO Shu, J Beesley, S Kar, IL Andrulis, H Anton-Culver, V Arndt, MW Beckmann, Z Zhao, X Guo, J Benitez
© 2016 UICC.Previous genome-wide association studies among women of European ancestry identified two independent breast cancer sus..
J Lei, A Rudolph, KB Moysich, S Behrens, EL Goode, MK Bolla, J Dennis, AM Dunning, DF Easton, Q Wang, J Benitez, JL Hopper, MC Southey, MK Schmidt, A Broeks, PA Fasching, L Haeberle, J Peto, I dos-Santos-Silva, EJ Sawyer
Immunosuppression plays a pivotal role in assisting tumors to evade immune destruction and promoting tumor development. We hypothe..
J Li, H Meeks, BJ Feng, S Healey, H Thorne, I Makunin, J Ellis, I Campbell, M Southey, G Mitchell, D Clouston, J Kirk, D Goldgar, G Chenevix-Trench, null kConFab Investigators
Introduction Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast c..
S Deb, SR Lakhani, L Ottini, SB Fox
Male breast cancer (MBC) is an uncommon and poorly understood disease. Recent molecular studies have shown important differences f..
M Barrdahl, F Canzian, S Lindström, I Shui, A Black, RN Hoover, RG Ziegler, JE Buring, SJ Chanock, WR Diver, SM Gapstur, MM Gaudet, GG Giles, C Haiman, BE Henderson, S Hankinson, DJ Hunter, AD Joshi, P Kraft, IM Lee
2015-12-15
The survival of breast cancer patients is largely influenced by tumor characteristics, such as TNM stage, tumor grade and hormone ..
S Li, EM Wong, JHE Joo, CH Jung, J Chung, C Apicella, J Stone, GS Dite, GG Giles, MC Southey, JL Hopper
2015-12-01
The disease- and mortality-related difference between biological age based on DNA methylation and chronological age (Δage) has bee..
K Lawrenson, ES Iversen, J Tyrer, RP Weber, P Concannon, DJ Hazelett, Q Li, JR Marks, A Berchuck, JM Lee, KKH Aben, H Anton-Culver, N Antonenkova, EV Bandera, Y Bean, MW Beckmann, M Bisogna, L Bjorge, N Bogdanova, LA Brinton
2015-11-01
Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but ma..
X Guo, J Long, C Zeng, K Michailidou, M Ghoussaini, MK Bolla, Q Wang, RL Milne, XO Shu, Q Cai, J Beesley, SP Kar, IL Andrulis, H Anton-Culver, V Arndt, MW Beckmann, A Beeghly-Fadiel, J Benitez, W Blot, N Bogdanova
Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. I..
JM Saunus, MCJ Quinn, AM Patch, JV Pearson, PJ Bailey, K Nones, AE McCart Reed, D Miller, PJ Wilson, F Al-Ejeh, M Mariasegaram, Q Lau, T Withers, RL Jeffree, LE Reid, L Da Silva, A Matsika, CM Niland, MC Cummings, TJC Bruxner
Treatment options for patients with brain metastases (BMs) have limited efficacy and the mortality rate is virtually 100%. Targete..
FR Day, KS Ruth, DJ Thompson, KL Lunetta, N Pervjakova, DI Chasman, L Stolk, HK Finucane, P Sulem, B Bulik-Sullivan, T Esko, AD Johnson, CE Elks, N Franceschini, C He, E Altmaier, JA Brody, LL Franke, J EHuffman, MF Keller
Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanis..
Louise Heiniger, Phyllis N Butow, Margaret Charles, Melanie A Price
2015-10-01
Risk comprehension in individuals at increased familial risk of cancer is suboptimal and little is known about how risk is underst..
D Bolton, Y Cheng, AJ Willems-Jones, J Li, E Niedermeyr, G Mitchell, D Clouston, N Lawrentschuk, A Sliwinski, S Fox, H Thorne
2015-08-01
Objective To ascertain whether D'Amico risk classification is an accurate discriminator of prostate cancer mortality risk in BRCA2..
M Yan, K Shield-Artin, D Byrne, S Deb, N Waddell, I Haviv, SB Fox
2015-07-08
© 2015 Yan et al.Background: While a number of studies have examined miRNA profiles across the molecular subtypes of breast cancer..
MT Parsons, PJ Whiley, J Beesley, M Drost, N de Wind, BA Thompson, L Marquart, JL Hopper, MA Jenkins, MA Brown, K Tucker, L Warwick, DD Buchanan, AB Spurdle
2015-07-01
Variants that disrupt the translation initiation sequences in cancer predisposition genes are generally assumed to be deleterious...
PA James, S Sawyer, S Boyle, MA Young, S Kovalenko, R Doherty, J McKinley, K Alsop, V Beshay, M Harris, S Fox, GJ Lindeman, G Mitchell
2015-06-15
Large genomic rearrangements (LGRs) account for at least 10 % of the mutations in BRCA1 and 5 % of BRCA2 mutations in outbred here..
AM Patch, EL Christie, D Etemadmoghadam, DW Garsed, J George, S Fereday, K Nones, P Cowin, K Alsop, PJ Bailey, KS Kassahn, F Newell, MCJ Quinn, S Kazakoff, K Quek, C Wilhelm-Benartzi, E Curry, HS Leong, A Hamilton, L Mileshkin
2015-05-28
Patients with high-grade serous ovarian cancer (HGSC) have experienced little improvement in overall survival, and standard treatm..
N Orr, F Dudbridge, N Dryden, S Maguire, D Novo, E Perrakis, N Johnson, M Ghoussaini, JL Hopper, MC Southey, C Apicella, J Stone, MK Schmidt, A Broeks, LJ Van't Veer, FB Hogervorst, PA Fasching, L Haeberle, AB Ekici, MW Beckmann
2015-05-15
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we ..
Q Guo, MK Schmidt, P Kraft, S Canisius, C Chen, S Khan, J Tyrer, MK Bolla, Q Wang, J Dennis, K Michailidou, M Lush, S Kar, J Beesley, AM Dunning, M Shah, K Czene, H Darabi, M Eriksson, D Lambrechts
2015-05-01
Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be be..
N Mavaddat, PDP Pharoah, K Michailidou, J Tyrer, MN Brook, MK Bolla, Q Wang, J Dennis, AM Dunning, M Shah, R Luben, J Brown, SE Bojesen, BG Nordestgaard, SF Nielsen, H Flyger, K Czene, H Darabi, M Eriksson, J Peto
Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different level..
K Michailidou, J Beesley, S Lindstrom, S Canisius, J Dennis, MJ Lush, MJ Maranian, MK Bolla, Q Wang, M Shah, BJ Perkins, K Czene, M Eriksson, H Darabi, JS Brand, SE Bojesen, BG Nordestgaard, H Flyger, SF Nielsen, N Rahman
2015-04-28
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated w..
S Blein, C Bardel, V Danjean, L McGuffog, S Healey, D Barrowdale, A Lee, J Dennis, KB Kuchenbaecker, P Soucy, MB Terry, WK Chung, DE Goldgar, SS Buys, R Janavicius, L Tihomirova, N Tung, CM Dorfling, EJ van Rensburg, SL Neuhausen
2015-04-25
Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. B..
A Pirie, Q Guo, P Kraft, S Canisius, DM Eccles, N Rahman, H Nevanlinna, C Chen, S Khan, J Tyrer, MK Bolla, Q Wang, J Dennis, K Michailidou, M Lush, AM Dunning, M Shah, K Czene, H Darabi, M Eriksson
2015-04-22
© 2015 Pirie et al. Introduction: Previous studies have identified common germline variants nominally associated with breast cance..
P Peterlongo, I Catucci, M Colombo, L Caleca, E Mucaki, M Bogliolo, M Marin, F Damiola, L Bernard, V Pensotti, S Volorio, V Dall'Olio, A Meindl, C Bartram, C Sutter, H Surowy, V Sornin, MG Dondon, S Eon-Marchais, D Stoppa-Lyonnet
2015-04-09
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial ri..
TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, G Chenevix-Trench, DF Easton, AC Antoniou, KL Nathanson, Y Laitman, A Kushnir, S Paluch-Shimon, R Berger, J Zidan, E Friedman, H Ehrencrona, M Stenmark-Askmalm, Z Einbeigi, N Loman
2015-04-07
Importance: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exis..
I Blanco, K Kuchenbaecker, D Cuadras, X Wang, D Barrowdale, GR De Garibay, P Librado, A Sánchez-Gracia, J Rozas, N Bonifaci, L McGuffog, VS Pankratz, A Islam, F Mateo, A Berenguer, A Petit, I Català, J Brunet, L Feliubadaló, E Tornero
2015-04-01
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HM..
A Rudolph, RL Milne, T Truong, JA Knight, P Seibold, D Flesch-Janys, S Behrens, U Eilber, MK Bolla, Q Wang, J Dennis, AM Dunning, M Shah, HR Munday, H Darabi, M Eriksson, JS Brand, J Olson, CM Vachon, E Hallberg
2015-03-15
A large genotyping project within the Breast Cancer Association Consortium (BCAC) recently identified 41 associations between sing..
GP Risbridger, RA Taylor, D Clouston, A Sliwinski, H Thorne, S Hunter, J Li, G Mitchell, D Murphy, M Frydenberg, D Pook, J Pedersen, R Toivanen, H Wang, M Papargiris, MG Lawrence, DM Bolton
2015-03-01
Background Intraductal carcinoma of the prostate (IDC-P) is a distinct clinicopathologic entity associated with aggressive prostat..
J Lei, A Rudolph, KB Moysich, S Rafiq, S Behrens, EL Goode, PPD Pharoah, P Seibold, PA Fasching, IL Andrulis, VN Kristensen, FJ Couch, U Hamann, MJ Hooning, H Nevanlinna, U Eilber, MK Bolla, J Dennis, Q Wang, A Lindblom
2015-02-10
Introduction: Tumor lymphocyte infiltration is associated with clinical response to chemotherapy in estrogen receptor (ER) negativ..
FJ Candido-dos-Reis, H Song, EL Goode, JM Cunningham, BL Fridley, MC Larson, K Alsop, E Dicks, P Harrington, SJ Ramus, A De Fazio, G Mitchell, S Fereday, KL Bolton, C Gourley, C Michie, B Karlan, J Lester, C Walsh, I Cass
2015-02-01
The authors thank Craig Luccarini, the staff at the Eastern Cancer Registration and Information Centre (SEARCH); Alicia Barroso, V..
T Nguyen-Dumont, M Mahmoodi, F Hammet, T Tran, H Tsimiklis, GG Giles, JL Hopper, MC Southey, DJ Park
Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficie..
LG Carvajal-Carmona, TA O’Mara, JN Painter, FA Lose, J Dennis, K Michailidou, JP Tyrer, S Ahmed, K Ferguson, CS Healey, K Pooley, J Beesley, T Cheng, A Jones, K Howarth, L Martin, M Gorman, S Hodgson, null National Study of Endometrial Cancer Genetics Group (NSECG), null The Australian National Endometrial Cancer Study Group (ANECS)
2015-01-13
Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome ..
DM Glubb, MJ Maranian, K Michailidou, KA Pooley, KB Meyer, S Kar, S Carlebur, M O'Reilly, JA Betts, KM Hillman, S Kaufmann, J Beesley, S Canisius, JL Hopper, MC Southey, H Tsimiklis, C Apicella, MK Schmidt, A Broeks, FB Hogervorst
2015-01-08
Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of ..
P Peterlongo, J Chang-Claude, KB Moysich, A Rudolph, RK Schmutzler, J Simard, P Soucy, RA Eeles, DF Easton, U Hamann, S Wilkening, B Chen, MA Rookus, MK Schmidt, FH Van Der Baan, AB Spurdle, LC Walker, F Lose, AT Maia, M Montagna
2015-01-01
Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The in..
null Wei-Yu Lin, NJ Camp, M Ghoussaini, J Beesley, K Michailidou, JL Hopper, C Apicella, MC Southey, J Stone, MK Schmidt, A Broeks, LJ Van't Veer, EJ Th Rutgers, K Muir, A Lophatananon, S Stewart-Brown, P Siriwanarangsan, PA Fasching, L Haeberle, AB Ekici
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the..
M Jamshidi, R Fagerholm, S Khan, K Aittomäki, K Czene, H Darabi, J Li, IL Andrulis, J Chang-Claude, P Devilee, PA Fasching, K Michailidou, MK Bolla, J Dennis, Q Wang, Q Guo, V Rhenius, S Cornelissen, A Rudolph, JA Knight
In breast cancer, constitutive activation of NF-κB has been reported, however, the impact of genetic variation of the pathway on p..
R Fagerholm, MK Schmidt, S Khan, S Rafiq, W Tapper, K Aittomäki, D Greco, T Heikkinen, TA Muranen, PA Fasching, W Janni, R Weinshilboum, CR Loehberg, JL Hopper, MC Southey, R Keeman, A Lindblom, S Margolin, A Mannermaa, V Kataja
We have utilized a two-stage study design to search for SNPs associated with the survival of breast cancer patients treated with a..
S Deb, SQ Wong, J Li, H Do, J Weiss, D Byrne, A Chakrabarti, T Bosma, A Fellowes, A Dobrovic, SB Fox
2014-12-09
Background:Male breast cancer (MBC) is still poorly understood with a large proportion arising in families with a history of breas..
RL Milne, B Burwinkel, K Michailidou, JI Arias Perez, M Pilar Zamora, P Menéndez-Rodríguez, D Hardisson, M Mendiola, A González-Neira, G Pita, M Rosario Alonso, J Dennis, Q Wang, MK Bolla, A Swerdlow, A Ashworth, N Orr, M Schoemaker, YD Ko, H Brauch
2014-11-15
Candidate variant association studies havebeenlargely unsuccessful in identifyingcommonbreast cancer susceptibility variants, alth..
KS Purrington, S Slettedahl, MK Bolla, K Michailidou, K Czene, H Nevanlinna, SE Bojesen, IL Andrulis, A Cox, P Hall, J Carpenter, D Yannoukakos, C A. Haiman, PA Fasching, A Mannermaa, R Winqvist, H Brenner, A Lindblom, G Chenevix-Trench, J Benitez
Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candi..
S Khan, D Greco, K Michailidou, RL Milne, TA Muranen, T Heikkinen, K Aaltonen, J Dennis, MK Bolla, J Liu, P Hall, A Irwanto, K Humphreys, J Li, K Czene, J Chang-Claude, R Hein, A Rudolph, P Seibold, D Flesch-Janys
2014-11-12
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect t..
AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkäs, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, E Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomäki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi
2014-11-01
BACKGROUND: Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifet..
JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson, T Ferreira, C He, DI Chasman, T Esko, G Thorleifsson, E Albrecht, WQ Ang, T Corre, DL Cousminer, B Feenstra, N Franceschini, A Ganna, AD Johnson, S Kjellqvist, KL Lunetta
2014-10-02
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is ass..
S Deb, I Johansson, D Byrne, C Nilsson, L Constable, ML Fjällskog, A Dobrovic, I Hedenfalk, SB Fox
2014-09-01
Male breast cancer is poorly understood with a large proportion arising in the familial context particularly with the BRCA2 germli..
RL Milne, J Herranz, K Michailidou, J Dennis, JP Tyrer, MP Zamora, JI Arias-Perez, A González-Neira, G Pita, MR Alonso, Q Wang, MK Bolla, K Czene, M Eriksson, K Humphreys, H Darabi, J Li, H Anton-Culver, SL Neuhausen, A Ziogas
2014-04-01
Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but ..
PJ Whiley, M De La Hoya, M Thomassen, A Becker, R Brandão, IS Pedersen, M Montagna, M Menéndez, F Quiles, S Gutiérrez-Enríquez, KD Leeneer, A Tenés, G Montalban, D Tserpelis, T Yoshimatsu, C Tirapo, M Raponi, T Caldes, A Blanco, M Santamariña
2014-02-01
BACKGROUND: Accurate evaluation of unclassified sequence variants incancer predisposition genesis essential for clinical managemen..
PJ Whiley, MT Parsons, J Leary, K Tucker, L Warwick, B Dopita, H Thorne, SR Lakhani, DE Goldgar, MA Brown, AB Spurdle
2014-01-28
Rare exonic, non-truncating variants in known cancer susceptibility genes such as BRCA1 and BRCA2 are problematic for genetic coun..
A Osorio, RL Milne, K Kuchenbaecker, T Vaclová, G Pita, R Alonso, P Peterlongo, I Blanco, M de la Hoya, M Duran, O Díez, T Ramón y Cajal, I Konstantopoulou, C Martínez-Bouzas, R Andrés Conejero, P Soucy, L McGuffog, D Barrowdale, A Lee, B Arver
2014-01-01
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with ca..
JRB Perry, YH Hsu, DI Chasman, AD Johnson, C Elks, E Albrecht, IL Andrulis, J Beesley, GS Berenson, S Bergmann, SE Bojesen, MK Bolla, J Brown, JE Buring, H Campbell, J Chang-Claude, G Chenevix-Trench, T Corre, FJ Couch, A Cox
The length of female reproductive lifespan is associated with multiple adverse outcomes, including breast cancer, cardiovascular d..
E Sawyer, R Roylance, C Petridis, MN Brook, S Nowinski, E Papouli, O Fletcher, S Pinder, A Hanby, K Kohut, P Gorman, M Caneppele, J Peto, I dos Santos Silva, N Johnson, R Swann, M Dwek, KA Perkins, C Gillett, R Houlston
Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and ..
SM Hunter, GL Ryland, P Moss, KL Gorringe, IG Campbell
Intraepithelial carcinomas of the fallopian tube are putative precursors to high-grade serous carcinomas of the ovary and peritone..
A Schoeps, A Rudolph, P Seibold, AM Dunning, RL Milne, SE Bojesen, A Swerdlow, I Andrulis, H Brenner, S Behrens, N Orr, M Jones, A Ashworth, J Li, H Cramp, D Connley, K Czene, H Darabi, SJ Chanock, J Lissowska
Genes that alter disease risk only in combination with certain environmental exposures may not be detected in genetic association ..
E Tilch, T Seidens, S Cocciardi, LE Reid, D Byrne, PT Simpson, AC Vargas, MC Cummings, SB Fox, SR Lakhani, G Chenevix Trench
Basal-like and triple-negative breast cancers usually display a high level of genomic instability and often carry TP53 mutations. ..
DJ Park, K Tao, F Le Calvez-Kelm, T Nguyen-Dumont, N Robinot, F Hammet, F Odefrey, H Tsimiklis, ZL Teo, LB Thingholm, EL Young, C Voegele, A Lonie, BJ Pope, TC Roane, R Bell, H Hu, null Shankaracharya, CD Huff, J Ellis
Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome-se..
AB Spurdle, FJ Couch, MT Parsons, L McGuffog, D Barrowdale, MK Bolla, Q Wang, S Healey, R Schmutzler, B Wappenschmidt, K Rhiem, E Hahnen, C Engel, A Meindl, N Ditsch, N Arnold, H Plendl, D Niederacher, C Sutter, S Wang-Gohrke
INTRODUCTION: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carrier..
EK Bancroft, EC Page, E Castro, H Lilja, A Vickers, D Sjoberg, M Assel, CS Foster, G Mitchell, K Drew, L Mæhle, K Axcrona, DG Evans, B Bulman, D Eccles, D McBride, C Van Asperen, H Vasen, LA Kiemeney, J Ringelberg
Background Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a hi..
KB Meyer, M O'Reilly, K Michailidou, S Carlebur, SL Edwards, JD French, R Prathalingham, J Dennis, MK Bolla, Q Wang, I De Santiago, JL Hopper, H Tsimiklis, C Apicella, MC Southey, MK Schmidt, A Broeks, LJ Van 't Veer, FB Hogervorst, K Muir
2013-12-05
The 10q26 locus in the second intron of FGFR2 is the locus most strongly associated with estrogen-receptor-positive breast cancer ..
A Rudolph, R Hein, S Lindström, L Beckmann, S Behrens, J Liu, H Aschard, MK Bolla, J Wang, T Truong, E Cordina-Duverger, F Menegaux, T Brüning, V Harth, WY Lo, G Severi, L Baglietto, M Southey, SJ Chanock, J Lissowska
2013-12-01
Women using menopausal hormone therapy (MHT) are at increased risk of developing breast cancer (BC). To detect genetic modifiers o..
ZL Teo, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, MC Southey
The familial aggregation of breast cancer has been well-described with approximately 25 % of breast cancers attributable to inheri..
IM Collins, RL Milne, SA McLachlan, M Friedlander, M Hickey, PC Weideman, KE Birch, JL Hopper, KA Phillips
2013-11-01
Purpose: Limited data suggest that germline BRCA1 mutations are associated with occult primary ovarian insufficiency and that BRCA..
IM Collins, RL Milne, PC Weideman, SA McLachlan, ML Friedlander, K Cuningham, JL Hopper, KA Phillips
Objective: To estimate the prevalence of the use of cancer risk-reducing measures among Australian BRCA1 and BRCA2 mutation carrie..
LC Walker, PJ Whiley, C Houdayer, TVO Hansen, A Vega, M Santamarina, A Blanco, L Fachal, MC Southey, A Lafferty, M Colombo, G De Vecchi, P Radice, AB Spurdle
2013-10-01
Splicing assays are commonly undertaken in the clinical setting to assess the clinical relevance of sequence variants in disease p..
EM John, V McGuire, D Thomas, R Haile, H Ozcelik, RL Milne, A Felberg, DW West, A Miron, JA Knight, MB Terry, M Daly, SS Buys, IL Andrulis, JL Hopper, MC Southey, GG Giles, C Apicella, H Thorne, AS Whittemore
2013-09-01
Background: The effects of low-dose medical radiation on breast cancer risk are uncertain, and few studies have included genetical..
RJ MacInnis, A Bickerstaffe, C Apicella, GS Dite, JG Dowty, K Aujard, KA Phillips, P Weideman, A Lee, MB Terry, GG Giles, MC Southey, AC Antoniou, JL Hopper
Background:Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is a risk prediction algor..
KA Phillips, RL Milne, MA Rookus, MB Daly, AC Antoniou, S Peock, D Frost, DF Easton, S Ellis, ML Friedlander, SS Buys, N Andrieu, C Noguès, D Stoppa-Lyonnet, V Bonadona, P Pujol, SA McLachlan, EM John, MJ Hooning, C Seynaeve
Purpose To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral breast c..
K Krishnan, JK Bassett, RJ MacInnis, DR English, JL Hopper, C McLean, GG Giles, L Baglietto
2013-08-01
Background: Adult weight is positively associated with postmenopausal breast cancer but few studies have investigated whether ther..
MC Southey, ZL Teo, I Winship
2013-07-30
For almost two decades, breast cancer clinical genetics has operated in an environment where a heritable cause of breast cancer su..
ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey
2013-07-09
Background:Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high br..
DR Barnes, D Barrowdale, J Beesley, X Chen, PA James, JL Hopper, D Goldgar, G Chenevix-Trench, AC Antoniou, G Mitchell
2013-06-25
Background: Pedigrees with multiple genotyped family members have been underutilised in breast cancer (BC) geneticassociation stud..
MC Southey, DJ Park, T Nguyen-Dumont, I Campbell, E Thompson, AH Trainer, G Chenevix-Trench, J Simard, M Dumont, P Soucy, M Thomassen, L Jønson, IS Pedersen, TVO Hansen, H Nevanlinna, S Khan, O Sinilnikova, S Mazoyer, F Lesueur, F Damiola
2013-06-21
Linkage analysis, positional cloning, candidate gene mutation scanning and genome-wide association study approaches have all contr..
GS Dite, M Mahmoodi, A Bickerstaffe, F Hammet, RJ Macinnis, H Tsimiklis, JG Dowty, C Apicella, KA Phillips, GG Giles, MC Southey, JL Hopper
2013-06-01
It has been shown that, for women aged 50 years or older, the discriminatory accuracy of the Breast Cancer Risk Prediction Tool (B..
JD French, M Ghoussaini, SL Edwards, KB Meyer, K Michailidou, S Ahmed, S Khan, MJ Maranian, M O'Reilly, KM Hillman, JA Betts, T Carroll, PJ Bailey, E Dicks, J Beesley, J Tyrer, AT Maia, A Beck, NW Knoblauch, C Chen
2013-04-04
Analysis of 4,405 variants in 89,050 European subjects from 41 case-control studies identified three independent association signa..
M Garcia-Closas, FJ Couch, S Lindstrom, K Michailidou, MK Schmidt, MN Brook, N Orr, SK Rhie, E Riboli, HS Feigelson, L Le Marchand, JE Buring, D Eccles, P Miron, PA Fasching, H Brauch, J Chang-Claude, J Carpenter, AK Godwin, H Nevanlinna
2013-04-01
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women..
PDP Pharoah, YY Tsai, SJ Ramus, CM Phelan, EL Goode, K Lawrenson, M Buckley, BL Fridley, JP Tyrer, H Shen, R Weber, R Karevan, MC Larson, H Song, DC Tessier, F Bacot, D Vincent, JM Cunningham, J Dennis, E Dicks
Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another ..
RA Eeles, AAA Olama, S Benlloch, EJ Saunders, DA Leongamornlert, M Tymrakiewicz, M Ghoussaini, C Luccarini, J Dennis, S Jugurnauth-Little, T Dadaev, DE Neal, FC Hamdy, JL Donovan, K Muir, GG Giles, G Severi, F Wiklund, H Gronberg, CA Haiman
Prostate cancer is the most frequently diagnosed cancer in males in developed countries. To identify common prostate cancer suscep..
K Michailidou, P Hall, A Gonzalez-Neira, M Ghoussaini, J Dennis, RL Milne, MK Schmidt, J Chang-Claude, SE Bojesen, MK Bolla, Q Wang, E Dicks, A Lee, C Turnbull, N Rahman, O Fletcher, J Peto, L Gibson, I Dos Santos Silva, H Nevanlinna
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibi..
S Nickels, T Truong, R Hein, K Stevens, K Buck, S Behrens, U Eilber, M Schmidt, L Häberle, A Vrieling, M Gaudet, J Figueroa, N Schoof, AB Spurdle, A Rudolph, PA Fasching, JL Hopper, E Makalic, DF Schmidt, MC Southey
2013-03-27
Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with li..
B Meiser, MA Price, PN Butow, J Karatas, J Wilson, L Heiniger, B Baylock, M Charles, SA McLachlan, KA Phillips
2013-03-01
Bilateral risk-reducing salpingo-oophorectomy (RRSO) has been shown to significantly reduce the risk of ovarian cancer. This study..
ZL Teo, DJ Park, E Provenzano, CA Chatfield, FA Odefrey, T Nguyen-Dumont, JG Dowty, JL Hopper, I Winship, DE Goldgar, MC Southey
2013-02-28
Introduction: Population-based studies of breast cancer have estimated that some PALB2 mutations confer a breast cancer risk (pene..
ER Thompson, SM Rowley, S Sawyer, DM Eccles, AH Trainer, G Mitchell, PA James, IG Campbell
2013-01-30
Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they have been observed ..
FJ Couch, J Cunningham, K Stevens, X Wang, L McGuffog, A Lee, KB Kuchenbaecker, D Barrowdale, J Dennis, E Dicks, S Peock, D Frost, S Ellis, E Fineberg, R Platte, DF Easton, AC Antoniou, Z Miedzybrodzka, H Gregory, P Morrison
2013-01-01
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modif..
MM Gaudet, KB Kuchenbaecker, J Vijai, RJ Klein, T Kirchhoff, L McGuffog, D Barrowdale, AM Dunning, A Lee, J Dennis, S Healey, E Dicks, P Soucy, OM Sinilnikova, VS Pankratz, X Wang, RC Eldridge, DC Tessier, D Vincent, F Bacot
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to dat..
CE Wakefield, H Thorne, J Kirk, E Niedermayr, EL Doolan, K Tucker
Purpose: The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) is a large-sca..
SE Bojesen, KA Pooley, SE Johnatty, J Beesley, K Michailidou, JP Tyrer, SL Edwards, HA Pickett, HC Shen, CE Smart, KM Hillman, PL Mai, K Lawrenson, MD Stutz, Y Lu, R Karevan, N Woods, RL Johnston, JD French, X Chen
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custo..