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Page 1
Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer.
Kar SP, Considine DPC, Tyrer JP, Plummer JT, Chen S, Dezem FS, Barbeira AN, Rajagopal PS, Rosenow WT, Moreno F, Bodelon C, Chang-Claude J, Chenevix-Trench G, deFazio A, Dörk T, Ekici AB, Ewing A, Fountzilas G, Goode EL, Hartman M, Heitz F, Hillemanns P, Høgdall E, Høgdall CK, Huzarski T, Jensen A, Karlan BY, Khusnutdinova E, Kiemeney LA, Kjaer SK, Klapdor R, Köbel M, Li J, Liebrich C, May T, Olsson H, Permuth JB, Peterlongo P, Radice P, Ramus SJ, Riggan MJ, Risch HA, Saloustros E, Simard J, Szafron LM, Titus L, Thompson CL, Vierkant RA, Winham SJ, Zheng W, Doherty JA, Berchuck A, Lawrenson K, Im HK, Manichaikul AW, Pharoah PDP, Gayther SA, Schildkraut JM. Kar SP, et al. Among authors: li j. HGG Adv. 2021 Jul 8;2(3):100042. doi: 10.1016/j.xhgg.2021.100042. Epub 2021 Jun 16. HGG Adv. 2021. PMID: 34317694 Free PMC article.
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, O'Mara T, Walker LC, Montgomery SB, Dermitzakis ET; Australian National Endometrial Cancer Study Group; Fahey P, Montgomery GW, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Coenegrachts L, Vergote I, Amant F, Salvesen HB, Trovik J, Njolstad TS, Helland H, Scott RJ, Ashton K, Proietto T, Otton G; National Study of Endometrial Cancer Genetics Group; Tomlinson I, Gorman M, Howarth K, Hodgson S, Garcia-Closas M, Wentzensen N, Yang H, Chanock S, Hall P, Czene K, Liu J, Li J, Shu XO, Zheng W, Long J, Xiang YB, Shah M, Morrison J, Michailidou K, Pharoah PD, Dunning AM, Easton DF. Spurdle AB, et al. Among authors: li j. Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17. Nat Genet. 2011. PMID: 21499250 Free PMC article.
Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk.
Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J, Stone J, Apicella C, Odefrey F, Gierach GL, Jud SM, Heusinger K, Beckmann MW, Pollan M, Fernández-Navarro P, Gonzalez-Neira A, Benitez J, van Gils CH, Lokate M, Onland-Moret NC, Peeters PH, Brown J, Leyland J, Varghese JS, Easton DF, Thompson DJ, Luben RN, Warren RM, Wareham NJ, Loos RJ, Khaw KT, Ursin G, Lee E, Gayther SA, Ramus SJ, Eeles RA, Leach MO, Kwan-Lim G, Couch FJ, Giles GG, Baglietto L, Krishnan K, Southey MC, Le Marchand L, Kolonel LN, Woolcott C, Maskarinec G, Haiman CA, Walker K, Johnson N, McCormack VA, Biong M, Alnaes GI, Gram IT, Kristensen VN, Børresen-Dale AL, Lindström S, Hankinson SE, Hunter DJ, Andrulis IL, Knight JA, Boyd NF, Figuero JD, Lissowska J, Wesolowska E, Peplonska B, Bukowska A, Reszka E, Liu J, Eriksson L, Czene K, Audley T, Wu AH, Pankratz VS, Hopper JL, dos-Santos-Silva I. Vachon CM, et al. Among authors: li j. Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1156-66. doi: 10.1158/1055-9965.EPI-12-0066. Epub 2012 Mar 27. Cancer Epidemiol Biomarkers Prev. 2012. PMID: 22454379 Free PMC article.
Identification of a novel percent mammographic density locus at 12q24.
Stevens KN, Lindstrom S, Scott CG, Thompson D, Sellers TA, Wang X, Wang A, Atkinson E, Rider DN, Eckel-Passow JE, Varghese JS, Audley T, Brown J, Leyland J, Luben RN, Warren RM, Loos RJ, Wareham NJ, Li J, Hall P, Liu J, Eriksson L, Czene K, Olson JE, Pankratz VS, Fredericksen Z, Diasio RB, Lee AM, Heit JA, DeAndrade M, Goode EL, Vierkant RA, Cunningham JM, Armasu SM, Weinshilboum R, Fridley BL, Batzler A, Ingle JN, Boyd NF, Paterson AD, Rommens J, Martin LJ, Hopper JL, Southey MC, Stone J, Apicella C, Kraft P, Hankinson SE, Hazra A, Hunter DJ, Easton DF, Couch FJ, Tamimi RM, Vachon CM. Stevens KN, et al. Among authors: li j. Hum Mol Genet. 2012 Jul 15;21(14):3299-305. doi: 10.1093/hmg/dds158. Epub 2012 Apr 24. Hum Mol Genet. 2012. PMID: 22532574 Free PMC article.
9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium.
Warren H, Dudbridge F, Fletcher O, Orr N, Johnson N, Hopper JL, Apicella C, Southey MC, Mahmoodi M, Schmidt MK, Broeks A, Cornelissen S, Braaf LM, Muir KR, Lophatananon A, Chaiwerawattana A, Wiangnon S, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Sawyer EJ, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Guénel P, Truong T, Laurent-Puig P, Mulot C, Bojesen SE, Nielsen SF, Flyger H, Nordestgaard BG, Milne RL, Benítez J, Arias-Pérez JI, Zamora MP, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Brenner H, Müller H, Arndt V, Langheinz A, Meindl A, Golatta M, Bartram CR, Schmutzler RK, Brauch H, Justenhoven C, Brüning T; GENICA Network; Chang-Claude J, Wang-Gohrke S, Eilber U, Dörk T, Schürmann P, Bremer M, Hillemanns P, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova N, Antonenkova N, Rogov Y, Bermisheva M, Prokofyeva D, Zinnatullina G, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Hartikainen JM, Kataja V, Chenevix-Trench G, Beesley J, Chen X; kConFab Investigators; Australian Ovarian Cancer Study Group; Lambrechts D, Smeets A, Paridaens R, Weltens C, Flesch-Janys D, Buck K, Behrens S, Peterlongo P, Bernard L, Manoukian S… See abstract for full author list ➔ Warren H, et al. Among authors: li j. Cancer Epidemiol Biomarkers Prev. 2012 Oct;21(10):1783-91. doi: 10.1158/1055-9965.EPI-12-0526. Epub 2012 Aug 2. Cancer Epidemiol Biomarkers Prev. 2012. PMID: 22859399 Free PMC article.
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.
Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, Van't Veer LJ, Garcia-Closas M, Hopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, Anton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ, Mannermaa A, Grenaker Alnæs G, John EM, Dörk T, Flyger H, Dunning AM, Wang Q, Muranen TA, van Hien R, Figueroa J, Southey MC, Czene K, Knight JA, Tollenaar RA, Beckmann MW, Ziogas A, Christiaens MR, Collée JM, Reed MW, Severi G, Marme F, Margolin S, Olson JE, Kosma VM, Kristensen VN, Miron A, Bogdanova N, Shah M, Blomqvist C, Broeks A, Sherman M, Phillips KA, Li J, Liu J, Glendon G, Seynaeve C, Ekici AB, Leunen K, Kriege M, Cross SS, Baglietto L, Sohn C, Wang X, Kataja V, Børresen-Dale AL, Meyer A, Easton DF, Schmidt MK, Bojesen SE. Weischer M, et al. Among authors: li j. J Clin Oncol. 2012 Dec 10;30(35):4308-16. doi: 10.1200/JCO.2012.42.7336. Epub 2012 Oct 29. J Clin Oncol. 2012. PMID: 23109706 Free PMC article.
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F; Australian Cancer Study; Australian Ovarian Cancer Study; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Gene Environment Interaction and Breast Cancer (GENICA); Swedish Breast Cancer Study (SWE-BRCA); Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE); Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO); Vergote I, Lambrechts S, Despierre E, Risch HA, González-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne RL, Garcia JJ, Cox … See abstract for full author list ➔ Bojesen SE, et al. Among authors: li j. Nat Genet. 2013 Apr;45(4):371-84, 384e1-2. doi: 10.1038/ng.2566. Nat Genet. 2013. PMID: 23535731 Free PMC article.
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.
French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Perez JI, Benitez J, Anton-Culver H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C; GENICA Network; Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Invest… See abstract for full author list ➔ French JD, et al. Among authors: li j. Am J Hum Genet. 2013 Apr 4;92(4):489-503. doi: 10.1016/j.ajhg.2013.01.002. Epub 2013 Mar 27. Am J Hum Genet. 2013. PMID: 23540573 Free PMC article.
The UGT1A6_19_GG genotype is a breast cancer risk factor.
Justenhoven C, Obazee O, Winter S, Rabstein S, Lotz A, Harth V, Pesch B, Brüning T, Baisch C, Hartikainen JM, Mannermaa A, Kosma VM, Kataja V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Fasching PA, Beckmann M, Ekici AB, Hein A, Hall P, Li J, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Hamann U, Ko YD, Brauch H. Justenhoven C, et al. Among authors: li j. Front Genet. 2013 Jun 11;4:104. doi: 10.3389/fgene.2013.00104. eCollection 2013. Front Genet. 2013. PMID: 23781229 Free PMC article.
CYP2B6*6 is associated with increased breast cancer risk.
Justenhoven C, Pentimalli D, Rabstein S, Harth V, Lotz A, Pesch B, Brüning T, Dörk T, Schürmann P, Bogdanova N, Park-Simon TW, Couch FJ, Olson JE, Fasching PA, Beckmann MW, Häberle L, Ekici A, Hall P, Czene K, Liu J, Li J, Baisch C, Hamann U, Ko YD, Brauch H. Justenhoven C, et al. Among authors: li j. Int J Cancer. 2014 Jan 15;134(2):426-30. doi: 10.1002/ijc.28356. Epub 2013 Jul 30. Int J Cancer. 2014. PMID: 23824676 Free PMC article.
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