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3 results on '"van Os, T.A."'

1. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Author

Antoniou, A.C., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Lee, A., Barrowdale, D., Healey, S., Sinilnikova, O.M., Caligo, M.A., Loman, N., Harbst, K., Lindblom, A., Arver, B., Rosenquist, R., Karlsson, P., Nathanson, K., Domchek, S., Rebbeck, T., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowowcka-Perlowska, E., Osorio, A., Duran, M., Andres, R., Benitez, J., Hamann, U., Hogervorst, F.B., van Os, T.A., Verhoef, S., Meijers-Heijboer, H.E., Wijnen, J., Gomez Garcia, E.B., Ligtenberg, M.J.L., Kriege, M., Collee, J.M., Ausems, M.G., Oosterwijk, J.C., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Lalloo, F., Jacobs, C, Eeles, R., Adlard, J., Davidson, R., Cole, T., Cook, J.L., Paterson, J., Douglas, F., Brewer, C., Hodgson, S., Morrison, P.J., Walker, L., Rogers, M.T., Donaldson, A., Dorkins, H., Godwin, A.K., Bove, B., Stoppa-Lyonnet, D., Houdayer, C., Buecher, B., de Pauw, A., Mazoyer, S., Calender, A., Leone, M., Bressac-de Paillerets, B., Caron, O., Sobol, H., Frenay, M., Prieur, F., Ferrer, S.U., Mortemousque, I., Buys, S., Daly, M., Miron, A., Terry, M.U., Hopper, J.L., John, E.M., Southey, M., Goldgar, D., Singer, C.F., Fink-Retter, A., Tea, M.K., Kaulich, D.U., Hansen, T.V., Nielsen, F.C., Barkardottir, R.B., Gaudet, M., Kirchhoff, T., Joseph, V., Dutra-Clarke, A., Offit, K., Piedmonte, M., et al., Antoniou, A.C., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Lee, A., Barrowdale, D., Healey, S., Sinilnikova, O.M., Caligo, M.A., Loman, N., Harbst, K., Lindblom, A., Arver, B., Rosenquist, R., Karlsson, P., Nathanson, K., Domchek, S., Rebbeck, T., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowowcka-Perlowska, E., Osorio, A., Duran, M., Andres, R., Benitez, J., Hamann, U., Hogervorst, F.B., van Os, T.A., Verhoef, S., Meijers-Heijboer, H.E., Wijnen, J., Gomez Garcia, E.B., Ligtenberg, M.J.L., Kriege, M., Collee, J.M., Ausems, M.G., Oosterwijk, J.C., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Lalloo, F., Jacobs, C, Eeles, R., Adlard, J., Davidson, R., Cole, T., Cook, J.L., Paterson, J., Douglas, F., Brewer, C., Hodgson, S., Morrison, P.J., Walker, L., Rogers, M.T., Donaldson, A., Dorkins, H., Godwin, A.K., Bove, B., Stoppa-Lyonnet, D., Houdayer, C., Buecher, B., de Pauw, A., Mazoyer, S., Calender, A., Leone, M., Bressac-de Paillerets, B., Caron, O., Sobol, H., Frenay, M., Prieur, F., Ferrer, S.U., Mortemousque, I., Buys, S., Daly, M., Miron, A., Terry, M.U., Hopper, J.L., John, E.M., Southey, M., Goldgar, D., Singer, C.F., Fink-Retter, A., Tea, M.K., Kaulich, D.U., Hansen, T.V., Nielsen, F.C., Barkardottir, R.B., Gaudet, M., Kirchhoff, T., Joseph, V., Dutra-Clarke, A., Offit, K., and Piedmonte, M., et al.

Abstract

Contains fulltext : 110606.pdf (publisher's version ) (Open Access), INTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). METHODS: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. RESULTS: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). CONCLUSIONS: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.

Published
2012

2. Risks of less common cancers in proven mutation carriers with lynch syndrome

Author

Engel, C., Loeffler, M., Steinke, V., Rahner, N., Holinski-Feder, E., Dietmaier, W., Schackert, H.K., Goergens, H., von Knebel Doeberitz, M., Goecke, T.O., Schmiegel, W., Buettner, R., Moeslein, G., Letteboer, T.G., Garcia, E.G., Hes, F.J., Hoogerbrugge, N., Menko, F.H., van Os, T.A., Sijmons, R.H., Wagner, A., Kluijt, I., Propping, P., Vasen, H.F., Engel, C., Loeffler, M., Steinke, V., Rahner, N., Holinski-Feder, E., Dietmaier, W., Schackert, H.K., Goergens, H., von Knebel Doeberitz, M., Goecke, T.O., Schmiegel, W., Buettner, R., Moeslein, G., Letteboer, T.G., Garcia, E.G., Hes, F.J., Hoogerbrugge, N., Menko, F.H., van Os, T.A., Sijmons, R.H., Wagner, A., Kluijt, I., Propping, P., and Vasen, H.F.

Abstract

Item does not contain fulltext, PURPOSE Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this retrospective cohort study was to provide risk estimates for these less common cancers in proven carriers of pathogenic mutations in the mismatch repair (MMR) genes MLH1, MSH2, and MSH6. PATIENTS AND METHODS Data were pooled from the German and Dutch national Lynch syndrome registries. Seven different cancer types were analyzed: stomach, small bowel, urinary bladder, other urothelial, breast, ovarian, and prostate cancer. Age-, sex- and MMR gene-specific cumulative risks (CRs) were calculated using the Kaplan-Meier method. Sex-specific incidence rates were compared with general population incidence rates by calculating standardized incidence ratios (SIRs). Multivariate Cox regression analysis was used to estimate the impact of sex and mutated gene on cancer risk. Results The cohort comprised 2,118 MMR gene mutation carriers (MLH1, n = 806; MSH2, n = 1,004; MSH6, n = 308). All cancers were significantly more frequent than in the general population. The highest risks were found for male small bowel cancer (SIR, 251; 95% CI, 177 to 346; CR at 70 years, 12.0; 95% CI, 5.7 to 18.2). Breast cancer showed an SIR of 1.9 (95% CI, 1.4 to 2.4) and a CR of 14.4 (95% CI, 9.5 to 19.3). MSH2 mutation carriers had a considerably higher risk of developing urothelial cancer than MLH1 or MSH6 carriers. CONCLUSION The sex- and gene-specific differences of less common cancer risks should be taken into account in cancer surveillance and prevention programs for patients with Lynch syndrome.

Published
2012

3. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Author

Couch, F.J., Gaudet, M.M., Antoniou, A.C., Ramus, S.J., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O.M., Andrulis, I.L., Ocgn, ., Ozcelik, H., Mulligan, A.M., Thomassen, M., Gerdes, A.M., Jensen, U.B., Skytte, A.B., Kruse, T.A., Caligo, M.A., von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Swe, B., Nathanson, K.L., Rebbeck, T.R., Domchek, S.M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Tejada, M.I., Benitez, J., Hamann, U., Hogervorst, F.B., Hebon, ., van Os, T.A., van Leeuwen, F.E., Meijers-Heijboer, H.E., Wijnen, J., Blok, M.J., Kets, M., Hooning, M.J., Oldenburg, R.A., Ausems, M.G., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Jacobs, C, Eeles, R.A., Adlard, J., Davidson, R., Eccles, D.M., Cole, T., Cook, J.L., Paterson, J., Brewer, C., Douglas, F., Hodgson, S.V., Morrison, P.J., Walker, L., Porteous, M.E., Kennedy, M.J., Side, L.E., Embrace, ., Bove, B., Godwin, A.K., Stoppa-Lyonnet, D., Collaborators, G.S., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Ligtenberg, M.J., Hoogerbrugge, N., et al., Couch, F.J., Gaudet, M.M., Antoniou, A.C., Ramus, S.J., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O.M., Andrulis, I.L., Ocgn, ., Ozcelik, H., Mulligan, A.M., Thomassen, M., Gerdes, A.M., Jensen, U.B., Skytte, A.B., Kruse, T.A., Caligo, M.A., von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Swe, B., Nathanson, K.L., Rebbeck, T.R., Domchek, S.M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Tejada, M.I., Benitez, J., Hamann, U., Hogervorst, F.B., Hebon, ., van Os, T.A., van Leeuwen, F.E., Meijers-Heijboer, H.E., Wijnen, J., Blok, M.J., Kets, M., Hooning, M.J., Oldenburg, R.A., Ausems, M.G., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Jacobs, C, Eeles, R.A., Adlard, J., Davidson, R., Eccles, D.M., Cole, T., Cook, J.L., Paterson, J., Brewer, C., Douglas, F., Hodgson, S.V., Morrison, P.J., Walker, L., Porteous, M.E., Kennedy, M.J., Side, L.E., Embrace, ., Bove, B., Godwin, A.K., Stoppa-Lyonnet, D., Collaborators, G.S., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Ligtenberg, M.J., Hoogerbrugge, N., and et al.

Abstract

Item does not contain fulltext, BACKGROUND: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). METHODS: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. RESULTS: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 x 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 x 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 x 10(-3)). CONCLUSIONS: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. IMPACT: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

Published
2012

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