The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

Breast Cancer Research and Treatment

Volumn 132, Issue 3, 2012, Pages 1119-1126

  Laitman, Yael ^a   Kuchenbaecker, Karoline B ^b   Rantala, Johanna ^c   Hogervorst, Frans ^d   Peock, Susan ^b   Godwin, Andrew K ^e   Arason, Adalgeir ^f,g   Kirchhoff, Tomas ^h   Offit, Kenneth ⁱ   Isaacs, Claudine ^j   Schmutzler, Rita K ^k   Wappenschmidt, Barbara ^k   Nevanlinna, Heli ^l   Chen, Xiaoqing ^m   Chenevix Trench, Georgia ^m   Healey, Sue ^m   Couch, Fergus ⁿ   Peterlongo, Paolo ^o,p   Radice, Paolo ^o,p   Nathanson, Katherine L ^q   Caligo, Maria Adelaide ^r   Neuhausen, Susan L ^s   Ganz, Patricia ^t   Sinilnikova, Olga M ^u,v   McGuffog, Lesley ^b   Easton, Douglas F ^b   Antoniou, Antonis C ^b   Wolf, Ido ^w,x   Friedman, Eitan ^a,x   more..

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d NETHERLANDS CANCER INSTITUTE   (Netherlands)

^e UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^f LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^g UNIVERSITY OF ICELAND   (Iceland)

^h NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

ⁱ MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^j GEORGETOWN UNIVERSITY   (United States)

^k UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^l UNIVERSITY OF HELSINKI   (Finland)

^m QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

ⁿ MAYO CLINIC   (United States)

^o NATIONAL CANCER INSTITUTE   (Italy)

^p FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^q UNIVERSITY OF PENNSYLVANIA   (United States)

^r UNIVERSITY HOSPITAL OF PISA   (Italy)

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

^t UNIVERSITY OF CALIFORNIA   (United States)

^u HOSPICES CIVILS DE LYON   (France)

^v CENTRE LÉON BÉRARD   (France)

^w SHEBA MEDICAL CENTER   (Israel)

^x TEL AVIV UNIVERSITY   (Israel)

more..

Author keywords

BRCA; Breast cancer; Modifier gene; Ovarian cancer klotho

Indexed keywords

ADULT; AGED; ARTICLE; ASHKENAZI JEW; BREAST CANCER; CANCER RISK; COHORT ANALYSIS; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; KOTHO VS GENE; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MUTATION CARRIER; OVARY CANCER; PENETRANCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TUMOR SUPPRESSOR GENE; BREAST TUMOR; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; OVARY TUMOR; PROPORTIONAL HAZARDS MODEL; SINGLE NUCLEOTIDE POLYMORPHISM;

BETA GLUCURONIDASE; BRCA1 PROTEIN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN; BRCA2 PROTEIN, HUMAN; KLOTHO PROTEIN;

ADULT; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CASE-CONTROL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLUCURONIDASE; HETEROZYGOTE; HUMANS; MIDDLE AGED; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS;

EID: 84865185665     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1938-8     Document Type: Article

References (23)

1. Matsumura Y, Aizawa H, Shiraki-Iida T, Nagai R, Kuro-o M Nabeshima Y-i (1998) Identification of the human Klotho gene and its two transcripts encoding membrane and secreted Klotho protein. Biochem Biophys Res Commun 242:626-630
2. Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt KP, Baum MG, Schiavi S, Hu MC, Moe OW, Kuro-o M (2006) Regulation of fibroblast growth factor-23 signaling by Klotho. J Biol Chem 281:6120-6123
3. Wolf I, Sadetzki S, Catane R, Karasik A, Kaufman B (2005) Diabetes mellitus and breast cancer. Lancet Oncol 6:103-111
4. Yee D (2006) Targeting insulin-like growth factor pathways. Br J Cancer 94:465-468
5. Hudelist G, Wagner T, Rosner M, Fink-Retter A, Gschwantler-Kaulich D, Czerwenka K, Kroiss R, Tea M, Pischinger K, Köstler WJ, Attems J, Mueller R, Blaukopf C, Kubista E, Hengstschläger M, Singer CF (2007) Intratumoral IGF-I protein expression is selectively upregulated in breast cancer patients with BRCA1/2 mutations. Endocr Relat Cancer 14:1053-1062
6. Maor S, Yosepovich A, Papa MZ, Yarden RI, Mayer D, Friedman E, Werner H (2007) Elevated insulin-like growth factor-I receptor (IGF-IR) levels in primary breast tumors associated with BRCA1 mutations. Cancer Lett 257:236-243
7. Lu L, Katsaros D, Wiley A, de la Longrais IAR, Puopolo M, Yu H (2008) Klotho expression in epithelial ovarian cancer and its association with insulin-like growth factors and disease progression. Cancer Invest 26:185-192
8. Wolf I, Levanon-Cohen S, Bose S, Ligumsky H, Sredni B, Kanety H, Kuro-o M, Karlan B, Kaufman B, Koeffler HP, Rubinek T (2008) Klotho: a tumor suppressor and a modulator of the IGF-1 and FGF pathways in human breast cancer. Oncogene 27:7094-7105
9. van der Looij M, Papp J, Sztán M, Pulay T, Elfadil I, Besznyak I, Tóth J, Devilee P, Oláh E (2001) Allelic imbalance and microsatellite instability in BRCA1 associated breast and ovarian tumors. Int J Oncol 18(4):775-780
10. Levy-Lahad E, Friedman E (2007) Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer 96:11-15
11. Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL (2008) Variation of breast cancer risk among BRCA1/2 carriers. J Am Med Assoc 299:194-201
12. Wolf I, Laitman Y, Rubinek T, Abramovitz L, Novikov I, Beeri R, Kuro-O M, Koeffler HP, Catane R, Freedman LS, Levy-Lahad E, Karlan BY, Friedman E, Kaufman B (2010) Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin. Oncogene 29(1):26-33
13. Roa BB, Boyd AA, Volcik K, Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14(2):185-187
14. Laitman Y, Borsthein RT, Stoppa-Lyonnet D, Dagan E, Castera L, Goislard M, Gershoni-Baruch R, Goldberg H, Kaufman B, Ben-Baruch N, Zidan J, Maray T, Soussan-Gutman L, Friedman E (2011) Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. Breast Cancer Res Treat 127(2):489-495
15. Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE, CIMBA (2007) An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2(CIMBA). Breast Cancer Res 9 (2):104
16. Antoniou AC, Sinilnikova OM, Simard J, Léoné M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Górski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC), Spurdle AB, Chen X, Waddell N, Cloonan N, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Kirchhoff T, Offit K, Friedman E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara CI, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF, Chenevix-Trench G, Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (2007) RAD51 135G'C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 81:1186-1200
17. Antoniou AC, Easton DF (2006) Models of genetic susceptibility to breast cancer. Oncogene 25:5898-5905
18. Barnes D, Lee A, EMBRACE Investigators, kConFab Investigators Easton D, Antoniou A (2011) Evaluation of the association methods for analysing modifiers of disease risk in carriers of high risk mutations. Genet Epidemiol (in press)
19. Lange K, Weeks D, Boehnke M (1988) Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 5:471-472
20. Boos DD (1992) On generalised score tests. Am Stat 46:327-333
21. Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, Risch HA, Eyfjord JE, Hopper JL, Southey MC, 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, Tryggvadottir L, Syrjakoski K, Kallioniemi OP, Eerola H, Nevanlinna H, Pharoah PD, Easton DF (2008) The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer 98:1457-1466
22. Thompson D, Easton D, Breast Cancer Linkage Consortium (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68(2):410-419
23. Ware MD, De Silva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S (2006) Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene 25(2):323-328