Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

BMC Cancer

Volumn 14, Issue 1, 2014, Pages

  Forte, Giovanna ^a   Grossi, Valentina ^b,c   Celestini, Valentina ^b   Lucisano, Giuseppe ^d   Scardapane, Marco ^d   Varvara, Dora ^b   Patruno, Margherita ^b   Bagnulo, Rosanna ^b   Loconte, Daria ^b   Giunti, Laura ^e   Petracca, Antonio ^f   Giglio, Sabrina ^f   Genuardi, Maurizio ^g   Pellegrini, Fabio ^d,h   Resta, Nicoletta ^b   Simone, Cristiano ^b,c  

^a NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^b POLICLINICO   (Italy)

^c NATIONAL CANCER INSTITUTE GIOVANNI PAOLO II   (Italy)

^d MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g CATHOLIC UNIVERSITY   (Italy)

^h CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Cancer risk; FOXO3A; Hamartomatous polyposis syndromes; PHTS; PJS

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE B; PROTEIN KINASE LKB1; TRANSCRIPTION FACTOR FKHRL1; FORKHEAD TRANSCRIPTION FACTOR; FOXO3 PROTEIN, HUMAN; GUANINE;

ADULT; AGED; ALLELE; ARTICLE; CANCER RISK; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FOXO3A GENE; GENE; GENE DOSAGE; GENE MUTATION; GENOTYPE; HAMARTOMA; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INTESTINE CELL; LKB1 GENE; MAJOR CLINICAL STUDY; MALE; PEUTZ JEGHERS SYNDROME; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; PTEN GENE; PTEN HAMARTOMA TUMOR SYNDROME; SEX DIFFERENCE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; CACO 2 CELL LINE; CONGENITAL TUMOR; GENE LOCUS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HCT116 CELL LINE; HT 29 CELL LINE; METABOLISM; MIDDLE AGED; PRESCHOOL CHILD; TUMOR CELL LINE; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CACO-2 CELLS; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GUANINE; HAMARTOMA SYNDROME, MULTIPLE; HCT116 CELLS; HT29 CELLS; HUMANS; MALE; MIDDLE AGED; PEUTZ-JEGHERS SYNDROME; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84907051969     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol 2009, 23:219-231. 10.1016/j.bpg.2009.02.007, 2678968, 19414148.
2. Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella P, Susca FC, Bozzao C, Loconte DC, Sabba` C, Urso E, Sala P, Fornasarig M, Grammatico P, Piepoli A, Host C, Turchetti D, Viel A, Memo L, Giunti L, Stigliano V, Varesco L, Bertario L, Genuardi M, Lucci Cordisco E, Tibiletti MG, Di Gregorio C, Andriulli A, Ponz de Leon M, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis 2013, 45:606-611. 10.1016/j.dld.2012.12.018, 23415580.
3. Resta N, Simone C, Mareni C, Montera M, Gentile M, Susca F, Gristina R, Pozzi S, Bertario L, Bufo P, Carlomagno N, Ingrosso M, Rossini FP, Tenconi R, Guanti G. STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res 1998, 58:4799-4801.
4. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F,. French Cowden Disease Network High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013, 50:255-263. 10.1136/jmedgenet-2012-101339, 23335809, French Cowden Disease Network.
5. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012, 18:400-407. 10.1158/1078-0432.CCR-11-2283, 3261579, 22252256.
6. Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C, Hogervorst FB, Hooning MJ, Ligtenberg MJ, Spurdle A, Chenevix-Trench G, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, et al. EMBRACE Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet 2010, 19:2886-2897. 10.1093/hmg/ddq174, 2893806, 20418484, EMBRACE.
7. Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M, et al. KConFab Investigators Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet 2013, 9:e1003173. 10.1371/journal.pgen.1003173, 3609647, 23544012, KConFab Investigators.
8. Chiacchiera F, Simone C. The AMPK-FoxO3A axis as a target for cancer treatment. Cell Cycle 2010, 9:1091-1096. 10.4161/cc.9.6.11035, 20190568.
9. Willcox BJ, Donlon TA, He Q, Chen R, Grove JS, Yano K, Masaki KH, Willcox DC, Rodriguez B, Curb JD. FOXO3A genotype is strongly associated with human longevity. Proc Natl Acad Sci U S A 2008, 105:13987-13992. 10.1073/pnas.0801030105, 2544566, 18765803.
10. Flachsbart F, Caliebe A, Kleindorp R, Blanche´ H, von Eller-Eberstein H, Nikolaus S, Schreiber S, Nebel A. Association of FOXO3A variation with human longevity confirmed in German centenarians. Proc Natl Acad Sci U S A 2009, 106:2700-2705. 10.1073/pnas.0809594106, 2650329, 19196970.
11. Anselmi CV, Malovini A, Roncarati R, Novelli V, Villa F, Condorelli G, Bellazzi R, Puca AA. Association of the FOXO3A locus with extreme longevity in a southern Italian centenarian study. Rejuvenation Res 2009, 12:95-104. 10.1089/rej.2008.0827, 19415983.
12. Pawlikowska L, Hu D, Huntsman S, Sung A, Chu C, Chen J, Joyner AH, Schork NJ, Hsueh WC, Reiner AP, Psaty BM, Atzmon G, Barzilai N, Cummings SR, Browner WS, Kwok PY, Ziv E,. Study of Osteoporotic Fractures Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell 2009, 8:460-472. 10.1111/j.1474-9726.2009.00493.x, 3652804, 19489743, Study of Osteoporotic Fractures.
13. Li Y, Wang WJ, Cao H, Lu J, Wu C, Hu FY, Guo J, Zhao L, Yang F, Zhang YX, Li W, Zheng GY, Cui H, Chen X, Zhu Z, He H, Dong B, Mo X, Zeng Y, Tian XL. Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations. Hum Mol Genet 2009, 18:4897-4904. 10.1093/hmg/ddp459, 2790334, 19793722.
14. Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA,. 1000 Genomes Project Consortium An integrated map of genetic variation from 1,092 human genomes. Nature 2012, 491:56-65. 10.1038/nature11632, 3498066, 23128226, 1000 Genomes Project Consortium.
15. Banasik K, Ribel-Madsen R, Gjesing AP, Wegner L, Andersson A, Poulsen P, Borglykke A, Witte DR, Pedersen O, Hansen T, Vaag A. The FOXO3A rs2802292 G-allele associates with improved peripheral and hepatic insulin sensitivity and increased skeletal muscle-FOXO3A mRNA expression in twins. Clin Endocrinol Metab 2011, 96:E119-E242.
16. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000, 37:828-830. 10.1136/jmg.37.11.828, 1734465, 11073535.
17. Riegert-Johnson D, Gleeson FC, Westra W, Hefferon T, Wong Kee Song LM, Spurck L, Boardman LA. Peutz-Jeghers Syndrome. Cancer Syndromes 2008, Bethesda, MD: National Center for Biotechnology Information (US), Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, Available online. Accessed 31-03-14.
18. Myatt SS, Lam EW. The emerging roles of forkhead box (Fox) proteins in cancer. Nat Rev Cancer 2007, 7:847-859. 10.1038/nrc2223, 17943136.
19. Xinbo Z, Naimei T, Hadden TJ, Rishi AK. Akt, FoxO and regulation of apoptosis. Biochim Biophys Acta Mol Cell Res 2011, 1813:1978-1986.