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Genetic Predisposition to in Situ and Invasive Lobular Carcinoma of the Breast
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نویسنده
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sawyer e. ,roylance r. ,petridis c. ,brook m.n. ,nowinski s. ,papouli e. ,fletcher o. ,pinder s. ,hanby a. ,kohut k. ,gorman p. ,caneppele m. ,peto j. ,dos santos silva i. ,johnson n. ,swann r. ,dwek m. ,perkins k.-a. ,gillett c. ,houlston r. ,ross g. ,de ieso p. ,southey m.c. ,hopper j.l. ,provenzano e. ,apicella c. ,wesseling j. ,cornelissen s. ,keeman r. ,fasching p.a. ,jud s.m. ,ekici a.b. ,beckmann m.w. ,kerin m.j. ,marme f. ,schneeweiss a. ,sohn c. ,burwinkel b. ,guénel p. ,truong t. ,laurent-puig p. ,kerbrat p. ,bojesen s.e. ,nordestgaard b.g. ,nielsen s.f. ,flyger h. ,milne r.l. ,perez j.i.a. ,menéndez p. ,benitez j. ,brenner h. ,dieffenbach a.k. ,arndt v. ,stegmaier c. ,meindl a. ,lichtner p. ,schmutzler r.k. ,lochmann m. ,brauch h. ,fischer h.-p. ,ko y.-d. ,nevanlinna h. ,muranen t.a. ,aittomäki k. ,blomqvist c. ,bogdanova n.v. ,dörk t. ,lindblom a. ,margolin s. ,mannermaa a. ,kataja v. ,kosma v.-m. ,hartikainen j.m. ,chenevix-trench g. ,lambrechts d. ,weltens c. ,van limbergen e. ,hatse s. ,chang-claude j. ,rudolph a. ,seibold p. ,flesch-janys d. ,radice p. ,peterlongo p. ,bonanni b. ,volorio s. ,giles g.g. ,severi g. ,baglietto l. ,mclean c.a. ,haiman c.a. ,henderson b.e. ,schumacher f. ,le marchand l. ,simard j. ,goldberg m.s. ,labrèche f. ,dumont m. ,kristensen v. ,winqvist r. ,pylkäs k. ,jukkola-vuorinen a. ,kauppila s. ,andrulis i.l. ,knight j.a. ,glendon g. ,mulligan a.m. ,devillee p. ,tollenaar r.a.e.m. ,seynaeve c.m. ,kriege m. ,figueroa j. ,chanock s.j. ,sherman m.e. ,hooning m.j. ,hollestelle a. ,van den ouweland a.m.w. ,van deurzen c.h.m. ,li j. ,czene k. ,humphreys k. ,cox a. ,cross s.s. ,reed m.w.r. ,shah m. ,jakubowska a. ,lubinski j. ,jaworska-bieniek k. ,durda k. ,swerdlow a. ,ashworth a. ,orr n. ,schoemaker m. ,couch f.j. ,hallberg e. ,gonzález-neira a. ,pita g. ,alonso m.r. ,tessier d.c. ,vincent d. ,bacot f. ,bolla m.k. ,wang q. ,dennis j. ,michailidou k. ,dunning a.m. ,hall p. ,easton d. ,pharoah p. ,schmidt m.k. ,tomlinson i. ,garcia-closas m.
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منبع
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plos genetics - 2014 - دوره : 10 - شماره : 4
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چکیده
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Invasive lobular breast cancer (ilc) accounts for 10-15% of all invasive breast carcinomas. it is generally er positive (er+) and often associated with lobular carcinoma in situ (lcis). genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer,but these studies included predominantly ductal (idc) carcinomas. to identify novel common polymorphisms that predispose to ilc and lcis,we pooled data from 6,023 cases (5,622 ilc,401 pure lcis) and 34,271 controls from 36 studies genotyped using the icogs chip. six novel snps most strongly associated with ilc/lcis in the pooled analysis were genotyped in a further 516 lobular cases (482 ilc,36 lcis) and 1,467 controls. these analyses identified a lobular-specific snp at 7q34 (rs11977670,or (95%ci) for ilc = 1.13 (1.09-1.18),p = 6.0×10-10; p-het for ilc vs idc er+ tumors = 1.8×10-4). of the 75 known breast cancer polymorphisms that were genotyped,56 were associated with ilc and 15 with lcis at p<0.05. two snps showed significantly stronger associations for ilc than lcis (rs2981579/10q26/fgfr2,p-het = 0.04 and rs889312/5q11/map3k1,p-het = 0.03); and two showed stronger associations for lcis than ilc (rs6678914/1q32/lgr6,p-het = 0.001 and rs1752911/6q14,p-het = 0.04). in addition,seven of the 75 known loci showed significant differences between er+ tumors with idc and ilc histology,three of these showing stronger associations for ilc (rs11249433/1p11,rs2981579/10q26/fgfr2 and rs10995190/10q21/znf365) and four associated only with idc (5p12/rs10941679; rs2588809/14q24/rad51l1,rs6472903/8q21 and rs1550623/2q31/cdca7). in conclusion,we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34,and shown for the first time that common breast cancer polymorphisms predispose to lcis. we have shown that many of the er+ breast cancer predisposition loci also predispose to ilc,although there is some heterogeneity between er+ lobular and er+ idc tumors. these data provide evidence for overlapping,but distinct etiological pathways within er+ breast cancer between morphological subtypes. © 2014.
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آدرس
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research oncology,division of cancer studies,kings college london,guy's hospital,london, United Kingdom, centre for molecular oncology,barts cancer institute,queen mary university of london,london, United Kingdom, research oncology,division of cancer studies,kings college london,guy's hospital,london, United Kingdom, division of genetics and epidemiology,institute of cancer research,london, United Kingdom, research oncology,division of cancer studies,kings college london,guy's hospital,london, United Kingdom, biomedical research centre,king's college london,guy's hospital,london, United Kingdom, breakthrough breast cancer research centre,the institute of cancer research,london, United Kingdom, research oncology,division of cancer studies,kings college london,guy's hospital,london, United Kingdom, leeds institute of molecular medicine,st james's university hospital,leeds, United Kingdom, centre for molecular oncology,barts cancer institute,queen mary university of london,london, United Kingdom, centre for molecular oncology,barts cancer institute,queen mary university of london,london, United Kingdom, centre for molecular oncology,barts cancer institute,queen mary university of london,london, United Kingdom, london school of hygiene and tropical medicine,london, United Kingdom, london school of hygiene and tropical medicine,london, United Kingdom, breakthrough breast cancer research centre,the institute of cancer research,london, United Kingdom, department of molecular and applied biosciences,university of westminster,london, United Kingdom, department of molecular and applied biosciences,university of westminster,london, United Kingdom, department of molecular and applied biosciences,university of westminster,london, United Kingdom, research oncology,division of cancer studies,kings college london,guy's hospital,london, United Kingdom, division of genetics and epidemiology,institute of cancer research,london, United Kingdom, the royal marsden nhs foundation trust,london, United Kingdom, the royal marsden nhs foundation trust,london, United Kingdom, department of pathology,the university of melbourne,melbourne, Australia, centre for molecular,environmental,genetic and analytic epidemiology,the university of melbourne,melbourne, Australia, nihr cambridge biomedical research centre,addenbrookes hospital,cambridge, United Kingdom, centre for molecular,environmental,genetic and analytic epidemiology,the university of melbourne,melbourne, Australia, netherlands cancer institute,antoni van leeuwenhoek hospital,amsterdam, Netherlands, netherlands cancer institute,antoni van leeuwenhoek hospital,amsterdam, Netherlands, netherlands cancer institute,antoni van leeuwenhoek hospital,amsterdam, Netherlands, david geffen school of medicine,department of medicine division of hematology and oncology,university of california at los angeles,los angeles,ca,united states,department of gynecology and obstetrics,university hospital erlangen,friedrich-alexander-universität erlangen-nürnberg,comprehensive cancer center erlangen-emn,erlangen, Germany, department of gynecology and obstetrics,university hospital erlangen,friedrich-alexander-universität erlangen-nürnberg,comprehensive cancer center erlangen-emn,erlangen, Germany, institute of human genetics,friedrich-alexander-universität erlangen-nürnberg,erlangen, Germany, department of gynecology and obstetrics,university hospital erlangen,friedrich-alexander-universität erlangen-nürnberg,comprehensive cancer center erlangen-emn,erlangen, Germany, surgery,clinical science institute,national university of ireland,galway, Ireland, department of obstetrics and gynecology,university of heidelberg,heidelberg,germany,national center for tumor diseases,university of heidelberg,heidelberg, Germany, department of obstetrics and gynecology,university of heidelberg,heidelberg,germany,national center for tumor diseases,university of heidelberg,heidelberg, Germany, department of obstetrics and gynecology,university of heidelberg,heidelberg, Germany, department of obstetrics and gynecology,university of heidelberg,heidelberg,germany,molecular epidemiology group,german cancer research center (dkfz),heidelberg, Germany, inserm (national institute of health and medical research),cesp (center for research in epidemiology and population health),u1018,environmental epidemiology of cancer,villejuif,france,university paris-sud,umrs 1018,villejuif, France, inserm (national institute of health and medical research),cesp (center for research in epidemiology and population health),u1018,environmental epidemiology of cancer,villejuif,france,university paris-sud,umrs 1018,villejuif, France, université paris sorbonne cité,umr-s775 inserm,paris, France, centre eugène marquis,department of medical oncology,rennes, France, copenhagen general population study and department of clinical biochemistry,herlev hospital,copenhagen university hospital,university of copenhagen,copenhagen, Denmark, copenhagen general population study and department of clinical biochemistry,herlev hospital,copenhagen university hospital,university of copenhagen,copenhagen, Denmark, copenhagen general population study and department of clinical biochemistry,herlev hospital,copenhagen university hospital,university of copenhagen,copenhagen, Denmark, department of breast surgery,herlev hospital,copenhagen university hospital,copenhagen, Denmark, genetic and molecular epidemiology group,human cancer genetics program,spanish national cancer research centre cnio,madrid, Spain, servicio de cirugía general y especialidades,hospital monte naranco,oviedo, Spain, servicio de anatomía patológica,hospital monte naranco,oviedo, Spain, human genetics group,human cancer genetics program,spanish national cancer research centre cnio,madrid, Spain, division of clinical epidemiology and aging research,german cancer research center (dkfz),heidelberg, Germany, division of clinical epidemiology and aging research,german cancer research center (dkfz),heidelberg, Germany, division of clinical epidemiology and aging research,german cancer research center (dkfz),heidelberg, Germany, saarland cancer registry,saarbrücken, Germany, division of gynaecology and obstetrics,technische universität münchen,munich, Germany, institute of human genetics,technische universität,munich, Germany, centre for familial breast and ovarian cancer and centre for integrated oncology,university hospital cologne,cologne, Germany, division of gynaecology and obstetrics,technische universität münchen,munich, Germany, dr. margarete fischer-bosch-institute of clinical pharmacology,stuttgart,germany,university of tübingen,tübingen, Germany, institute of pathology,university of bonn,bonn, Germany, department of internal medicine,evangelische kliniken bonn ggmbh,johanniter krankenhaus,bonn, Germany, department of obstetrics and gynecology,university of helsinki and helsinki university central hospital,helsinki, Finland, department of obstetrics and gynecology,university of helsinki and helsinki university central hospital,helsinki, Finland, department of clinical genetics,helsinki university central hospital,helsinki, Finland, department of oncology,helsinki university central hospital,helsinki, Finland, department of radiation oncology,hannover medical school,hannover, Germany, gynaecology research unit,hannover medical school,hannover, Germany, department of molecular medicine and surgery,karolinska institutet,stockholm, Sweden, department of oncology - pathology,karolinska institutet,stockholm, Sweden, school of medicine,institute of clinical medicine,pathology and forensic medicine,university of eastern finland,joensuu,finland,cancer center,kuopio university hospital,kuopio, Finland, school of medicine,institute of clinical medicine,pathology and forensic medicine,university of eastern finland,joensuu,finland,cancer center,kuopio university hospital,kuopio, Finland, school of medicine,institute of clinical medicine,pathology and forensic medicine,university of eastern finland,joensuu,finland,cancer center,kuopio university hospital,kuopio, Finland, school of medicine,institute of clinical medicine,pathology and forensic medicine,university of eastern finland,joensuu,finland,cancer center,kuopio university hospital,kuopio, Finland, department of genetics,qimr berghofer institute of medical research,brisbane, Australia, vesalius research center (vrc),vib,leuven,belgium,department of oncology,university of leuven,leuven, Belgium, university hospital gashuisberg,leuven, Belgium, university hospital gashuisberg,leuven, Belgium, university hospital gashuisberg,leuven, Belgium, division of cancer epidemiology,german cancer research center (dkfz),heidelberg, Germany, division of cancer epidemiology,german cancer research center (dkfz),heidelberg, Germany, division of cancer epidemiology,german cancer research center (dkfz),heidelberg, Germany, division of cancer epidemiology,german cancer research center (dkfz),heidelberg, Germany, unit of molecular bases of genetic risk and genetic testing,preventive and predictive medicine,fondazione irccs istituto nazionale tumori (int),milan,italy,ifom,fondazione istituto firc di oncologia molecolare,milan, Italy, ifom,fondazione istituto firc di oncologia molecolare,milan, Italy, division of cancer prevention and genetics,istituto europeo di oncologia (ieo),milan, Italy, ifom,fondazione istituto firc di oncologia molecolare and cogentech cancer genetic test laboratory,milan, Italy, cancer epidemiology centre,the cancer council victoria,melbourne,australia,centre for molecular,environmental,genetic,and analytic epidemiology,the university of melbourne,melbourne, Australia, cancer epidemiology centre,the cancer council victoria,melbourne,australia,centre for molecular,environmental,genetic,and analytic epidemiology,the university of melbourne,melbourne, Australia, cancer epidemiology centre,the cancer council victoria,melbourne,australia,centre for molecular,environmental,genetic,and analytic epidemiology,the university of melbourne,melbourne, Australia, department of pathology,the alfred hospital,prahran,vic, Australia, department of preventive medicine,keck school of medicine,university of southern california,los angeles,ca, United States, department of preventive medicine,keck school of medicine,university of southern california,los angeles,ca, United States, department of preventive medicine,keck school of medicine,university of southern california,los angeles,ca, United States, epidemiology program,cancer research center,university of hawaii,honolulu,hi, United States, cancer genomics laboratory,centre hospitalier universitaire de québec research center and laval university,quebec, Canada, department of medicine,mcgill university,montreal,qc,canada,division of clinical epidemiology,mcgill university health centre,royal victoria hospital,montreal,qc, Canada, département de médecine sociale et préventive,département de santé environnementale et santé au travail,université de montréal,montreal,qc, Canada, cancer genomics laboratory,centre hospitalier universitaire de québec research center and laval university,quebec, Canada, department of genetics,institute for cancer research,oslo university hospital,radiumhospitalet,oslo,norway,uio,oslo, Norway, laboratory of cancer genetics and tumor biology,department of clinical chemistry and biocenter oulu,university of oulu,nordlab/oulu university hospital,oulu, Finland, laboratory of cancer genetics and tumor biology,department of clinical chemistry and biocenter oulu,university of oulu,nordlab/oulu university hospital,oulu, Finland, department of oncology,oulu university hospital,university of oulu,oulu, Finland, department of oncology,oulu university hospital,university of oulu,oulu, Finland, ontario cancer genetics network,fred a. litwin center for cancer genetics,samuel lunenfeld research institute,mount sinai hospital,toronto,on,canada,department of molecular genetics,university of toronto,toronto,on, Canada, samuel lunenfeld research institute,mount sinai hospital,toronto,on,canada,division of epidemiology,dalla lana school of public health,university of toronto,toronto,on, Canada, ontario cancer genetics network,fred a. litwin center for cancer genetics,samuel lunenfeld research institute,mount sinai hospital,toronto,on, Canada, department of laboratory medicine and pathobiology,university of toronto,toronto,on,canada,laboratory medicine program,university health network,toronto,on, Canada, department of human genetics and department of pathology,leiden university medical center,leiden, Netherlands, department of surgical oncology,leiden university medical center,leiden, Netherlands, family cancer clinic,department of medical oncology,erasmus mc-daniel den hoed cancer center,rotterdam, Netherlands, family cancer clinic,department of medical oncology,erasmus mc-daniel den hoed cancer center,rotterdam, Netherlands, division of cancer prevention,national cancer institute,bethesda,md, United States, division of cancer prevention,national cancer institute,bethesda,md, United States, division of cancer prevention,national cancer institute,bethesda,md, United States, department of medical oncology,family cancer clinic,erasmus mc cancer institute,rotterdam, Netherlands, department of medical oncology,family cancer clinic,erasmus mc cancer institute,rotterdam, Netherlands, department of clinical genetics,erasmus university medical center,rotterdam, Netherlands, department of pathology,erasmus university medical center,rotterdam, Netherlands, human genetics division,genome institute of singapore, Singapore, medical epidemiology and biostatistics,karolinska institutet,stockholm, Sweden, medical epidemiology and biostatistics,karolinska institutet,stockholm, Sweden, cruk/ycr sheffield cancer research centre,department of oncology,university of sheffield,sheffield, United Kingdom, academic unit of pathology,department of neuroscience,university of sheffield,sheffield, United Kingdom, cruk/ycr sheffield cancer research centre,department of oncology,university of sheffield,sheffield, United Kingdom, centre for cancer genetic epidemiology,department of oncology,university of cambridge,cambridge, United Kingdom, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin,poland,postgraduate school of molecular medicine,warsaw medical university,warsaw, Poland, department of genetics and pathology,pomeranian medical university,szczecin, Poland, division of genetics and epidemiology and division of breast cancer research,the institute of cancer research,sutton,surrey, United Kingdom, breakthrough breast cancer research centre,division of breast cancer research,the institute of cancer research,london, United Kingdom, breakthrough breast cancer research centre,division of breast cancer research,the institute of cancer research,london, United Kingdom, division of genetics and epidemiology,institute of cancer research,london, United Kingdom, department of laboratory medicine and pathology,mayo clinic,rochester,mn, United States, department of health sciences research,mayo clinic,rochester,mn, United States, human genotyping-cegen unit,human cancer genetics program,spanish national cancer research centre cnio,madrid, Spain, human genotyping-cegen unit,human cancer genetics program,spanish national cancer research centre cnio,madrid, Spain, human genotyping-cegen unit,human cancer genetics program,spanish national cancer research centre cnio,madrid, Spain, mcgill university and génome québec innovation centre,montréal,qc, Canada, mcgill university and génome québec innovation centre,montréal,qc, Canada, mcgill university and génome québec innovation centre,montréal,qc, Canada, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of oncology,university of cambridge,cambridge, United Kingdom, medical epidemiology and biostatistics,karolinska institutet,stockholm, Sweden, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge,united kingdom,centre for cancer genetic epidemiology,department of oncology,university of cambridge,cambridge, United Kingdom, netherlands cancer institute,antoni van leeuwenhoek hospital,amsterdam, Netherlands, wellcome trust centre for human genetics and oxford biomedical research centre,university of oxford,oxford, United Kingdom, division of genetics and epidemiology,institute of cancer research,london,united kingdom,breakthrough breast cancer research centre,the institute of cancer research,london, United Kingdom
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Authors
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