PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

Journal of Medical Genetics

Volumn 53, Issue 12, 2016, Pages 800-811

  Southey, Melissa C ^a   Goldgar, David E ^b   Winqvist, Robert ^c   Pylkäs, Katri ^c   Couch, Fergus ^d   Tischkowitz, Marc ^e   Foulkes, William D ^f   Dennis, Joe ^g   Michailidou, Kyriaki ^g   van Rensburg, Elizabeth J ^h   Heikkinen, Tuomas ⁱ   Nevanlinna, Heli ⁱ   Hopper, John L ^a   Dörk, Thilo ^j   Claes, Kathleen B M ^k   Reis Filho, Jorge ^l   Teo, Zhi Ling ^a   Radice, Paolo ^m   Catucci, Irene ⁿ   Peterlongo, Paolo ⁿ   Tsimiklis, Helen ^a   Odefrey, Fabrice A ^a   Dowty, James G ^a   Schmidt, Marjanka K ^o   Broeks, Annegien ^o   Hogervorst, Frans B ^o   Verhoef, Senno ^o   Carpenter, Jane ^p   Clarke, Christine ^p   Scott, Rodney J ^q   Fasching, Peter A ^r,s   Haeberle, Lothar ^r   Ekici, Arif B ^r   Beckmann, Matthias W ^r   Peto, Julian ^t   dos Santos Silva, Isabel ^t   Fletcher, Olivia ^u   Johnson, Nichola ^u   Bolla, Manjeet K ^g   Sawyer, Elinor J ^v   Tomlinson, Ian ^w,en   Kerin, Michael J ^x   Miller, Nicola ^x   Marme, Federik ^y   Burwinkel, Barbara ^y,z   Yang, Rongxi ^y,z   Guénel, Pascal ^aa,ab   Truong, Thérèse ^aa,ab   Menegaux, Florence ^aa,ab   Sanchez, Marie ^aa,ab   Bojesen, Stig ^ac   Nielsen, Sune F ^ac   Flyger, Henrik ^ac   Benitez, Javier ^ad,ae   Zamora, M Pilar ^af   Perez, Jose Ignacio Arias ^ag   Menéndez, Primitiva ^ag   Anton Culver, Hoda ^ah   Neuhausen, Susan ^ai   Ziogas, Argyrios ^ah   Clarke, Christina A ^aj   Brenner, Hermann ^z   Arndt, Volker ^z   Stegmaier, Christa ^ak   Brauch, Hiltrud ^z,al,am   Brüning, Thomas ^an   Ko, Yon Dschun ^ao   Muranen, Taru A ⁱ   Aittomäki, Kristiina ⁱ   Blomqvist, Carl ⁱ   Bogdanova, Natalia V ^j   Antonenkova, Natalia N ^ap   Lindblom, Annika ^aq   Margolin, Sara ^aq   Mannermaa, Arto ^ar,as   Kataja, Vesa ^ar,as   Kosma, Veli Matti ^ar,as   Hartikainen, Jaana M ^ar,as   Spurdle, Amanda B ^a,at   Wauters, Els ^au,av   Smeets, Dominiek ^au,av   Beuselinck, Benoit ^aw   Floris, Giuseppe ^aw   Chang Claude, Jenny ^z   Rudolph, Anja ^z   Seibold, Petra ^z   Flesch Janys, Dieter ^ax   Olson, Janet E ^d   Vachon, Celine ^d   Pankratz, Vernon S ^d   McLean, Catriona ^ay   Haiman, Christopher A ^az   Henderson, Brian E ^az   Schumacher, Fredrick ^az   Marchand, Loic Le ^ba   Kristensen, Vessela ^bb,bc   Alnæs, Grethe Grenaker ^bb   Zheng, Wei ^bd   Hunter, David J ^be   Lindstrom, Sara ^be   Hankinson, Susan E ^be,bf   Kraft, Peter ^be   Andrulis, Irene ^bg,bh   Knight, Julia A ^bg,bi   Glendon, Gord ^bg   Mulligan, Anna Marie ^bh,bj   Jukkola Vuorinen, Arja ^bk   Grip, Mervi ^bk   Kauppila, Saila ^bk   Devilee, Peter ^bl   Tollenaar, Robert A E M ^bl   Seynaeve, Caroline ^bm,bq   Hollestelle, Antoinette ^bm,bq   Garcia Closas, Montserrat ^u   Figueroa, Jonine ^bn   Chanock, Stephen J ^bn   Lissowska, Jolanta ^bo   Czene, Kamila ^aq   Darabi, Hatef ^aq   Eriksson, Mikael ^aq   Eccles, Diana M ^bp   Rafiq, Sajjad ^bp   Tapper, William J ^bp   Gerty, Sue M ^bp   Hooning, Maartje J ^bq   Martens, John W M ^bq   Collée, J Margriet ^bm   Tilanus Linthorst, Madeleine ^bm   Hall, Per ^aq   Li, Jingmei ^br   Brand, Judith S ^aq   Humphreys, Keith ^aq   Cox, Angela ^bs   Reed, Malcolm W R ^bs   Luccarini, Craig ^e   Baynes, Caroline ^e   Dunning, Alison M ^e   Hamann, Ute ^z   Torres, Diana ^z,bt   Ulmer, Hans Ulrich ^bu   Rüdiger, Thomas ^bv   Jakubowska, Anna ^bw   Lubinski, Jan ^bw   Jaworska, Katarzyna ^bw,bx   Durda, Katarzyna ^bw   Slager, Susan ^d   Toland, Amanda E ^by   Ambrosone, Christine B ^bz   Yannoukakos, Drakoulis ^ca   Swerdlow, Anthony ^u   Ashworth, Alan ^u   Orr, Nick ^u   Jones, Michael ^u   González Neira, Anna ^ad   Pita, Guillermo ^ad   Alonso, M Rosario ^ad   álvarez, Nuria ^ad   Herrero, Daniel ^ad   Tessier, Daniel C ^cb   Vincent, Daniel ^cb   Bacot, Francois ^cb   Simard, Jacques ^cc   Dumont, Martine ^cc   Soucy, Penny ^cc   Eeles, Rosalind ^u,cd   Muir, Kenneth ^ce   Wiklund, Fredrik ^aq   Gronberg, Henrik ^aq   Schleutker, Johanna ^cf,cg,ep   Nordestgaard, Børge G ^ac   Weischer, Maren ^ac,ch   Travis, Ruth C ^ci   Neal, David ^e,el   Donovan, Jenny L ^cj   Hamdy, Freddie C ^ci   Khaw, Kay Tee ^ck   Stanford, Janet L ^cl,cm   Blot, William J ^cn   Thibodeau, Stephen ^d   Schaid, Daniel J ^d   Kelley, Joseph L ^co   Maier, Christiane ^cp   Kibel, Adam S ^bf,cq   Cybulski, Cezary ^bw   Cannon Albright, Lisa ^ch   Butterbach, Katja ^z   Park, Jong ^cr   Kaneva, Radka ^cs   Batra, Jyotsna ^ct   Teixeira, Manuel R ^cu,eo   Kote Jarai, Zsofia ^u   Al Olama, Ali Amin ^g   Benlloch, Sara ^g   Renner, Stefan P ^r   Hartmann, Arndt ^r   Hein, Alexander ^r   Ruebner, Matthias ^r   Lambrechts, Diether ^au,av   Van Nieuwenhuysen, Els ^cv   Vergote, Ignace ^cv   Lambretchs, Sandrina ^cv   Doherty, Jennifer A ^cv   Rossing, Mary Anne ^cl,cm   Nickels, Stefan ^z   Eilber, Ursula ^z   Wang Gohrke, Shan ^cw   Odunsi, Kunle ^bz   Sucheston Campbell, Lara E ^bz   Friel, Grace ^bz   Lurie, Galina ^ba   Killeen, Jeffrey L ^cx   Wilkens, Lynne R ^ba   Goodman, Marc T ^cy   Runnebaum, Ingo ^cz   Hillemanns, Peter A ^j   Pelttari, Liisa M ⁱ   Butzow, Ralf ⁱ   Modugno, Francesmary ^co,da   Edwards, Robert P ^co   Ness, Roberta B ^db   Moysich, Kirsten B ^bz   Bois, Andreas du ^dc,dd   Heitz, Florian ^dc,dd   Harter, Philipp ^dc,dd   Kommoss, Stefan ^dd,de   Karlan, Beth Y ^cy   Walsh, Christine ^cy   Lester, Jenny ^cy   Jensen, Allan ^df   Kjaer, Susanne Krüger ^df,dg   Høgdall, Estrid ^df,dh   Peissel, Bernard ^m   Bonanni, Bernardo ^di   Bernard, Loris ^di,em   Goode, Ellen L ^d   Fridley, Brooke L ^dj   Vierkant, Robert A ^d   Cunningham, Julie M ^d   Larson, Melissa C ^d   Fogarty, Zachary C ^d   Kalli, Kimberly R ^d   Liang, Dong ^dk   Lu, Karen H ^dl   Hildebrandt, Michelle A T ^dl   Wu, Xifeng ^dl   Levine, Douglas A ^l   Dao, Fanny ^l   Bisogna, Maria ^l   Berchuck, Andrew ^dm   Iversen, Edwin S ^dn   Marks, Jeffrey R ^dm   Akushevich, Lucy ^do   Cramer, Daniel W ^bf   Schildkraut, Joellen ^do   Terry, Kathryn L ^bf   Poole, Elizabeth M ^be,dp   Stampfer, Meir ^be,dp   Tworoger, Shelley S ^be,dp   Bandera, Elisa V ^dq   Orlow, Irene ^l   Olson, Sara H ^l   Bjorge, Line ^dr,ds   Salvesen, Helga B ^dr,ds   van Altena, Anne M ^dt   Aben, Katja K H ^dt,du,dv   Kiemeney, Lambertus A ^dt   Massuger, Leon F A G ^dt   Pejovic, Tanja ^dv   Bean, Yukie ^dv   Brooks Wilson, Angela ^dw,dx   Kelemen, Linda E ^dy,dz   Cook, Linda S ^ea   Le, Nhu D ^dw   Górski, Bohdan ^bw   Gronwald, Jacek ^bw   Menkiszak, Janusz ^bw   Høgdall, Claus K ^dg   Lundvall, Lene ^dh   Nedergaard, Lotte ^dh   Engelholm, Svend Aage ^dh   Dicks, Ed ^eb   Tyrer, Jonathan ^eb   Campbell, Ian ^ec   McNeish, Iain ^ed   Paul, James ^ee   Siddiqui, Nadeem ^ef   Glasspool, Rosalind ^ef   Whittemore, Alice S ^ef   Rothstein, Joseph H ^ef   McGuire, Valerie ^ef   Sieh, Weiva ^ef   Cai, Hui ^bd   Shu, Xiao Ou ^bd   Teten, Rachel T ^eg   Sutphen, Rebecca ^eg   McLaughlin, John R ^eh   Narod, Steven A ^bi   Phelan, Catherine M ^cr   Monteiro, Alvaro N ^cr   Fenstermacher, David ^cr   Lin, Hui Yi ^cr   Permuth, Jennifer B ^cr   Sellers, Thomas A ^cr   Chen, Y Ann ^cr   Tsai, Ya Yu ^cr   Chen, Zhihua ^cr   Gentry Maharaj, Aleksandra ^ei   Gayther, Simon A ^az   Ramus, Susan J ^az   Menon, Usha ^ei   Wu, Anna H ^az   Pearce, Celeste L ^az   Van Den Berg, David ^az   Pike, Malcolm C ^l,az   Dansonka Mieszkowska, Agnieszka ^bo   Plisiecka Halasa, Joanna ^bo   Moes Sosnowska, Joanna ^bo   Kupryjanczyk, Jolanta ^bo   Pharoah, Paul D P ^eb   Song, Honglin ^eb   Winship, Ingrid ^a,ej   Chenevix Trench, Georgia ^at   Giles, Graham G ^a,ek   Tavtigian, Sean V ^b   Easton, Doug F ^g   Milne, Roger L ^a,ek   more..

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF UTAH   (United States)

^c UNIVERSITY OF OULU   (Finland)

^d MAYO CLINIC   (United States)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f MCGILL UNIVERSITY   (Canada)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h UNIVERSITY OF PRETORIA   (South Africa)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^j HANNOVER MEDICAL SCHOOL   (Germany)

^k GHENT UNIVERSITY HOSPITAL   (Belgium)

^l MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^m NATIONAL CANCER INSTITUTE   (Italy)

ⁿ FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^o ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

^p UNIVERSITY OF SYDNEY   (Australia)

^q UNIVERSITY OF NEWCASTLE   (Australia)

^r UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^s UNIVERSITY OF CALIFORNIA   (United States)

^t LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^u INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^v GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^w UNIVERSITY OF OXFORD   (United Kingdom)

^x UNIVERSITY HOSPITAL GALWAY   (Ireland)

^y UNIVERSITY OF HEIDELBERG   (Germany)

^z GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^aa NATIONAL INSTITUTES OF HEALTH   (United States)

^ab UNIVERSITÉ PARIS SACLAY   (France)

^ac GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^ad Structural Biology and Biocomputing Programme   (Spain)

^ae CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^af HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^ag HOSPITAL MONTE NARANCO   (Spain)

^ah UNIVERSITY OF CALIFORNIA   (United States)

^ai CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^aj CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^ak SAARLAND CANCER REGISTRY   (Germany)

^al DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^am UNIVERSITY OF TÜBINGEN   (Germany)

^an RUHR UNIVERSITY BOCHUM   (Germany)

^ao Johanniter Krankenhaus   (Germany)

^ap Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian SSR   (Belarus)

^aq KAROLINSKA INSTITUTE   (Sweden)

^ar UNIVERSITY OF EASTERN FINLAND   (Finland)

^as KUOPIO UNIVERSITY HOSPITAL   (Finland)

^at QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^au DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^av UNIVERSITY OF LEUVEN   (Belgium)

^aw UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^ax UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^ay ALFRED HOSPITAL   (Australia)

^az UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^ba UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^bb OSLO UNIVERSITY HOSPITAL   (Norway)

^bc UNIVERSITY OF OSLO   (Norway)

^bd VANDERBILT INGRAM CANCER CENTER   (United States)

^be HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^bf BRIGHAM AND WOMEN S HOSPITAL   (United States)

^bg MOUNT SINAI HOSPITAL   (Canada)

^bh UNIVERSITY OF TORONTO   (Canada)

^bi UNIVERSITY OF TORONTO   (Canada)

^bj UNIVERSITY HEALTH NETWORK   (Canada)

^bk OULU UNIVERSITY HOSPITAL   (Finland)

^bl LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^bm ERASMUS MEDICAL CENTER   (Netherlands)

^bn NATIONAL CANCER INSTITUTE   (United States)

^bo INSTITUTE OF ONCOLOGY   (Poland)

^bp UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^bq ERASMUS MC CANCER INSTITUTE   (Netherlands)

^br GENOME INSTITUTE OF SINGAPORE   (Singapore)

^bs UNIVERSITY OF SHEFFIELD   (United Kingdom)

^bt PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^bu Frauenklinik der Stadtklinik Baden Baden   (Germany)

^bv STÄDTISCHES KLINIKUM KARLSRUHE   (Germany)

^bw POMERANIAN MEDICAL UNIVERSITY   (Poland)

^bx MEDICAL UNIVERSITY OF WARSAW   (Poland)

^by OHIO STATE UNIVERSITY   (United States)

^bz ROSWELL PARK CANCER INSTITUTE   (United States)

^ca INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^cb MCGILL UNIVERSITY   (Canada)

^cc University Laval   (Canada)

^cd INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^ce UNIVERSITY OF WARWICK   (United Kingdom)

^cf UNIVERSITY OF TURKU   (Finland)

^cg TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^ch UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^ci UNIVERSITY OF OXFORD   (United Kingdom)

^cj UNIVERSITY OF BRISTOL   (United Kingdom)

^ck UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^cl USA   (United States)

^cm UNIVERSITY OF WASHINGTON   (United States)

^cn INTERNATIONAL EPIDEMIOLOGY INSTITUTE   (United States)

^co UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^cp UNIVERSITY HOSPITAL ULM   (Germany)

^cq WASHINGTON UNIVERSITY   (United States)

^cr H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^cs MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^ct QUEENSLAND UNIVERSITY OF TECHNOLOGY   (Australia)

^cu PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^cv DARTMOUTH MEDICAL SCHOOL   (United States)

^cw UNIVERSITY OF ULM   (Germany)

^cx UNIVERSITY OF HAWAII   (United States)

^cy CEDARS SINAI MEDICAL CENTER   (United States)

^cz JENA UNIVERSITY HOSPITAL   (Germany)

^da UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

^db UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^dc KLINIKEN ESSEN MITTE   (Germany)

^dd DR HORST SCHMIDT KLINIKEN   (Germany)

^de UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^df DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

^dg University of Copenhagen   (Denmark)

^dh UNIVERSITY OF COPENHAGEN   (Denmark)

^di EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^dj UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^dk TEXAS SOUTHERN UNIVERSITY   (United States)

^dl UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^dm DUKE UNIVERSITY MEDICAL CENTER   (United States)

^dn Duke University   (United States)

^do DUKE CANCER INSTITUTE   (United States)

^dp HARVARD MEDICAL SCHOOL   (United States)

^dq RUTGERS CANCER INSTITUTE OF NEW JERSEY   (United States)

^dr HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^ds UNIVERSITY OF BERGEN   (Norway)

^dt RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^du The Netherlands Comprehensive Cancer Organisation   (Netherlands)

^dv OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^dw BRITISH COLUMBIA CANCER AGENCY   (Canada)

^dx SIMON FRASER UNIVERSITY   (Canada)

^dy MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^dz MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^ea UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^eb UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ec PETER MACCALLUM CANCER CENTRE   (Australia)

^ed UNIVERSITY OF GLASGOW   (United Kingdom)

^ee BEATSON WEST OF SCOTLAND CANCER CENTRE   (United Kingdom)

^ef STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^eg UNIVERSITY OF SOUTH FLORIDA   (United States)

^eh PUBLIC HEALTH ONTARIO   (Canada)

^ei UNIVERSITY COLLEGE LONDON   (United Kingdom)

^ej ROYAL MELBOURNE HOSPITAL   (Australia)

^ek CANCER EPIDEMIOLOGY CENTRE   (Australia)

^el CANCER RESEARCH UK CAMBRIDGE RESEARCH INSTITUTE   (United Kingdom)

^em Oregon Health and Science University ^*  (Italy)

^en UNIVERSITY OF PORTO   (Portugal)

^eo LOUISIANA STATE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^ep TURKU UNIVERSITY HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; CHECKPOINT KINASE 2; DNA; ATM PROTEIN, HUMAN; CHEK2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

AFRICAN; AGED; ARTICLE; BREAST CANCER; CANCER GENETICS; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; EUROPEAN; EVIDENCE BASED PRACTICE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; OVARY CANCER; PALB2 GENE; PENETRANCE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; PROSTATE CANCER; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE; BREAST NEOPLASMS; CASE CONTROL STUDY; CLINICAL TRIAL; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MULTICENTER STUDY; MUTATION; OVARIAN NEOPLASMS; PROSTATIC NEOPLASMS; RISK;

ATAXIA TELANGIECTASIA MUTATED PROTEINS; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHECKPOINT KINASE 2; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; OVARIAN NEOPLASMS; PROSTATIC NEOPLASMS; RISK; TUMOR SUPPRESSOR PROTEINS;

EID: 84986246968     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103839     Document Type: Article

References (35)

1. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet 2008;40:17-22.
2. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-7.
3. Southey MC, Teo ZL, Winship I. PALB2 and breast cancer: ready for clinical translation! Appl Clin Genet 2013;6:43-52.
4. Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007;446:316-19.
5. Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res 2008;14:4667-71.
6. Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Baglietto L, Giles GG, Goldgar DE, Foulkes WD, Hopper JL, kConFab for the Beast Cancer Family Registry. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res 2010;12:R109.
7. Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat 2006;27:1122-8.
8. Antoniou AC, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003;72:1117-30.
9. Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371:497-506.
10. Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C, Nevanlinna H. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009;15:3214-22.
11. Le Calvez-Kelm F, Lesueur F, Damiola F, Vallée M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Breast Cancer Family Registry, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Res 2011;13:R6.
12. Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC, Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 2009;85:427-46.
13. Goldgar DE, Healey S, Dowty JG, Da Silva L, Chen X, Spurdle AB, Terry MB, Daly MJ, Buys SM, Southey MC, Andrulis I, John EM, BCFR; kConFab, Khanna KK, Hopper JL, Oefner PJ, Lakhani S, Chenevix-Trench G. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res 2011;13:R73.
14. Thompson D, Easton DF, Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002;94:1358-65.
15. Edwards SM, Kote-Jarai Z, Meitz J, Hamoudi R, Hope Q, Osin P, Jackson R, Southgate C, Singh R, Falconer A, Dearnaley DP, Ardern-Jones A, Murkin A, Dowe A, Kelly J, Williams S, Oram R, Stevens M, Teare DM, Ponder BA, Gayther SA, Easton DF, Eeles RA, Cancer Research UK/Bristish Prostate Group UK Familial Prostate Cancer Study Collaborators; British Association of Urological Surgeons Section of Oncology. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 2003;72:1-12.
16. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310-16.
17. Leongamornlert D, Mahmud N, Tymrakiewicz M, Saunders E, Dadaev T, Castro E, Goh C, Govindasami K, Guy M, O'Brien L, Sawyer E, Hall A, Wilkinson R, Easton D, UKGPCS, CollaboratorsGoldgar D, Eeles R, Kote-Jarai Z. Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer 2012;106:1697-701.
18. Tischkowitz M, Sabbaghian N, Ray AM, Lange EM, Foulkes WD, Cooney KA. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer. Prostate 2008;68:675-8.
19. Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, Derlatka P, Cendrowski K, Kupryjanczyk J. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 2010;11:20.
20. Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T, kConFab, Dowty JG, Hopper JL, Winship I, Goldgar DE, Southey MC. Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. Breast Cancer Res 2013;15:R17.
21. Sakoda LC, Jorgenson E, Witte JS. Turning of COGS moves forward findings for hormonally mediated cancers. Nat Genet 2013;45:345-8.
22. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Breast and Ovarian Cancer Susceptibility Collaboration, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM, kConFab Investigators, Australian Ovarian Cancer Study Group, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Müller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dörk T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DF. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45:353-61.
23. Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Australian Cancer Study, Australian Ovarian Cancer Study Group, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Høgdall E, Høgdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubinski J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM, van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH, Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro AN, Gayther SA, Schildkraut JM, Sellers TA. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet 2013;45:362-70.
24. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dörk T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002;94:205-15.
25. Benjamini, Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Series B 1995;57:289-300.
26. Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ, Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D, Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT, Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D, Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA, Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D, Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T, Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG, Røder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S, Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK, Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA, Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C, Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA, Antoniou AC, Vincent D, Bacot F, Tessier DC, COGS-Cancer Research UK GWAS-ELLIPSE ( part of GAME-ON) Initiative, Australian Prostate Cancer Bioresource, UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, UK ProtecT (Prostate testing for cancer and Treatment) Study Collaborators, PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Kote-Jarai Z, Easton DF. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet 2013;45:385-91.
27. Glusman G. Clinical applications of sequencing take center stage. Genome Biol 2013;14:303.
28. Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics. Hum Mutat 2013;34:1035-42.
29. Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER. A comprehensive next generation sequencing based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. J Clin Endocrinol Metab 2013;98:E1248-56.
30. Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, Meetei AR, Andreassen PR. Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene 2014;33:4803-12.
31. Taylor AM, Lam Z, Last JI, Byrd PJ. Ataxia telangiectasia: more variation at clinical and cellular levels. Clin Genet 2015;87:199-208. Mar.
32. Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, kConFab Investigators, Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G. Characterization of the breast cancer associated ATM 7271T
33. Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26, 000 patient cases and 27, 000 controls. J Clin Oncol 2008;26:542-8.
34. Han FF, Guo CL, Liu LH. The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis. DNA Cell Biol 2013;32:329-35.
35. Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 2015;372:2243-57.