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Page 1
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: blows f. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Cheng T, Tomlinson I, Kerin MJ, Miller N, Marmé F, Surowy HM, Burwinkel B, Guénel P, Truong T, Menegaux F, Mulot C, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora MP, Arias Perez JI, Menéndez P, González-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Anton-Culver H, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Müller-Myhsok B, Brauch H, Brüning T, Ko YD; GENICA Network; Tessier DC, Vincent D, Bacot F, Nevanlinna H, Aittomäki K, Blomqvist C, Khan S, Matsuo K, Ito H, Iwata H, Horio A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu AH, Tseng CC, Van Den Berg D, Stram DO, Neven P, Wauters E, Wildiers H, Lambrechts D, Chang-Claude J, Rudolph A, Seibo… See abstract for full author list ➔ Lin WY, et al. Among authors: blows fm. Hum Mol Genet. 2015 Jan 1;24(1):285-98. doi: 10.1093/hmg/ddu431. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168388 Free PMC article.
TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.
Fagerholm R, Khan S, Schmidt MK, García-Closas M, Heikkilä P, Saarela J, Beesley J, Jamshidi M, Aittomäki K, Liu J, Ali HR, Andrulis IL, Beckmann MW, Behrens S, Blows FM, Brenner H, Chang-Claude J, Couch FJ, Czene K, Fasching PA, Figueroa J, Floris G, Glendon G, Guo Q, Hall P, Hallberg E, Hamann U, Holleczek B, Hooning MJ, Hopper JL, Jager A, Kabisch M; kConFab/AOCS Investigators; Keeman R, Kosma VM, Lambrechts D, Lindblom A, Mannermaa A, Margolin S, Provenzano E, Shah M, Southey MC, Dennis J, Lush M, Michailidou K, Wang Q, Bolla MK, Dunning AM, Easton DF, Pharoah PD, Chenevix-Trench G, Blomqvist C, Nevanlinna H. Fagerholm R, et al. Among authors: blows fm. Oncotarget. 2017 Mar 14;8(11):18381-18398. doi: 10.18632/oncotarget.15110. Oncotarget. 2017. PMID: 28179588 Free PMC article.
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D; EMBRACE; Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P; GEMO Study Collaborators; Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB; HEBON; Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Górski B, Cybulski C, Spurdle AB, Holland H; kConFab; Goldgar DE, John EM, Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R, Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D, Guiducci C; SWE-BRCA; Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM, Thomassen M, Sunde L, Peterlongo P, … See abstract for full author list ➔ Antoniou AC, et al. Among authors: blows f. Nat Genet. 2010 Oct;42(10):885-92. doi: 10.1038/ng.669. Epub 2010 Sep 19. Nat Genet. 2010. PMID: 20852631 Free PMC article.
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, Wang Q, Healey S, Schmutzler R, Wappenschmidt B, Rhiem K, Hahnen E, Engel C, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Ellis S, Frost D, Platte R, Perkins J, Evans DG, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Scuvera G, Manoukian S, Bonanni B, Mariette F, Fortuzzi S, Viel A, Pasini B, Papi L, Varesco L, Balleine R, Nathanson KL, Domchek SM, Offitt K, Jakubowska A, Lindor N, Thomassen M, Jensen UB, Rantala J, Borg Å, Andrulis IL, Miron A, Hansen TV, Caldes T, Neuhausen SL, Toland AE, Nevanlinna H, Montagna M, Garber J, Godwin AK, Osorio A, Factor RE, Terry MB, Rebbeck TR, Karlan BY, Southey M, Rashid MU, Tung N, Pharoah PD, Blows FM, Dunning AM, Provenzano E, Hall P, Czene K, Schmidt MK, Broeks A, Cornelissen S, Verhoef S, Fasching PA, Beckmann MW, Ekici AB, Slamon DJ, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Aittomäki K, Muranen TA, Heikkilä P, Blomqvist C, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Olson JE, Pankratz VS, John EM, Whitte… See abstract for full author list ➔ Spurdle AB, et al. Among authors: blows fm. Breast Cancer Res. 2014 Dec 23;16(6):3419. doi: 10.1186/s13058-014-0474-y. Breast Cancer Res. 2014. PMID: 25857409 Free PMC article.
Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers.
Sung H, Garcia-Closas M, Chang-Claude J, Blows FM, Ali HR, Figueroa J, Nevanlinna H, Fagerholm R, Heikkilä P, Blomqvist C, Giles GG, Milne RL, Southey MC, McLean C, Mannermaa A, Kosma VM, Kataja V, Sironen R, Couch FJ, Olson JE, Hallberg E, Olswold C, Cox A, Cross SS, Kraft P, Tamimi RM, Eliassen AH, Schmidt MK, Bolla MK, Wang Q, Easton D, Howat WJ, Coulson P, Pharoah PD, Sherman ME, Yang XR. Sung H, et al. Among authors: blows fm. Br J Cancer. 2016 Feb 2;114(3):298-304. doi: 10.1038/bjc.2015.437. Epub 2015 Dec 17. Br J Cancer. 2016. PMID: 26679376 Free PMC article.
Incorporating progesterone receptor expression into the PREDICT breast prognostic model.
Grootes I, Keeman R, Blows FM, Milne RL, Giles GG, Swerdlow AJ, Fasching PA, Abubakar M, Andrulis IL, Anton-Culver H, Beckmann MW, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Briceno I, Burwinkel B, Camp NJ, Castelao JE, Choi JY, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dunning AM, Dwek M, Easton DF, Eccles DM, Eriksson M, Ernst K, Evans DG, Figueroa JD, Fink V, Floris G, Fox S, Gabrielson M, Gago-Dominguez M, García-Sáenz JA, González-Neira A, Haeberle L, Haiman CA, Hall P, Hamann U, Harkness EF, Hartman M, Hein A, Hooning MJ, Hou MF, Howell SJ; ABCTB Investigators; kConFab Investigators; Ito H, Jakubowska A, Janni W, John EM, Jung A, Kang D, Kristensen VN, Kwong A, Lambrechts D, Li J, Lubiński J, Manoochehri M, Margolin S, Matsuo K, Taib NAM, Mulligan AM, Nevanlinna H, Newman WG, Offit K, Osorio A, Park SK, Park-Simon TW, Patel AV, Presneau N, Pylkäs K, Rack B, Radice P, Rennert G, Romero A, Saloustros E, Sawyer EJ, Schneeweiss A, Schochter F, Schoemaker MJ, Shen CY, Shibli R, Sinn P, Tapper WJ, Tawfiq E, Teo SH, Teras LR, Torres D, Vachon CM, van Deurzen CHM, Wendt C, Williams JA, Winqvist R, Elwood M, Schmidt MK, García-Closas M, Pharoah PDP. Grootes I, et al. Among authors: blows fm. Eur J Cancer. 2022 Sep;173:178-193. doi: 10.1016/j.ejca.2022.06.011. Epub 2022 Aug 4. Eur J Cancer. 2022. PMID: 35933885 Free PMC article.
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.
Yang XR, Chang-Claude J, Goode EL, Couch FJ, Nevanlinna H, Milne RL, Gaudet M, Schmidt MK, Broeks A, Cox A, Fasching PA, Hein R, Spurdle AB, Blows F, Driver K, Flesch-Janys D, Heinz J, Sinn P, Vrieling A, Heikkinen T, Aittomäki K, Heikkilä P, Blomqvist C, Lissowska J, Peplonska B, Chanock S, Figueroa J, Brinton L, Hall P, Czene K, Humphreys K, Darabi H, Liu J, Van 't Veer LJ, van Leeuwen FE, Andrulis IL, Glendon G, Knight JA, Mulligan AM, O'Malley FP, Weerasooriya N, John EM, Beckmann MW, Hartmann A, Weihbrecht SB, Wachter DL, Jud SM, Loehberg CR, Baglietto L, English DR, Giles GG, McLean CA, Severi G, Lambrechts D, Vandorpe T, Weltens C, Paridaens R, Smeets A, Neven P, Wildiers H, Wang X, Olson JE, Cafourek V, Fredericksen Z, Kosel M, Vachon C, Cramp HE, Connley D, Cross SS, Balasubramanian SP, Reed MW, Dörk T, Bremer M, Meyer A, Karstens JH, Ay A, Park-Simon TW, Hillemanns P, Arias Pérez JI, Menéndez Rodríguez P, Zamora P, Benítez J, Ko YD, Fischer HP, Hamann U, Pesch B, Brüning T, Justenhoven C, Brauch H, Eccles DM, Tapper WJ, Gerty SM, Sawyer EJ, Tomlinson IP, Jones A, Kerin M, Miller N, McInerney N, Anton-Culver H, Ziogas A, Shen CY, Hsiung CN, Wu PE, Yang SL, Yu JC, C… See abstract for full author list ➔ Yang XR, et al. Among authors: blows f. J Natl Cancer Inst. 2011 Feb 2;103(3):250-63. doi: 10.1093/jnci/djq526. Epub 2010 Dec 29. J Natl Cancer Inst. 2011. PMID: 21191117 Free PMC article.
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, Apicella C, Smith LD, Hammet F, Southey MC, Van 't Veer LJ, de Groot R, Smit VT, Fasching PA, Beckmann MW, Jud S, Ekici AB, Hartmann A, Hein A, Schulz-Wendtland R, Burwinkel B, Marme F, Schneeweiss A, Sinn HP, Sohn C, Tchatchou S, Bojesen SE, Nordestgaard BG, Flyger H, Ørsted DD, Kaur-Knudsen D, Milne RL, Pérez JI, Zamora P, Rodríguez PM, Benítez J, Brauch H, Justenhoven C, Ko YD; Genica Network; Hamann U, Fischer HP, Brüning T, Pesch B, Chang-Claude J, Wang-Gohrke S, Bremer M, Karstens JH, Hillemanns P, Dörk T, Nevanlinna HA, Heikkinen T, Heikkilä P, Blomqvist C, Aittomäki K, Aaltonen K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kauppinen JM, Kataja V, Auvinen P, Eskelinen M, Soini Y, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Holland H; kConFab; AOCS; Lambrechts D, Claes B, Vandorpe T, Neven P, Wildiers H, Flesch-Janys D, Hein R, Löning T, Kosel M, Fredericksen ZS, Wang X, Giles GG, Baglietto L, Severi G, McLean C, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Alnæs GG, Kristensen V, Børresen-Dale AL, Hunter DJ, Hankinson SE, Andrulis IL, Mulligan AM, O'Malley FP, Devilee P, Huijts PE, Tollenaar RA… See abstract for full author list ➔ Broeks A, et al. Among authors: blows f. Hum Mol Genet. 2011 Aug 15;20(16):3289-303. doi: 10.1093/hmg/ddr228. Epub 2011 May 19. Hum Mol Genet. 2011. PMID: 21596841 Free PMC article.
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