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11 results on '"Rossum, Mm"'

3. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Author

Wesdorp, M, Gans, P, Schraders, M, Oostrik, J, Huynen, MA, Venselaar, H, Beynon, AJ, van Gaalen, J, Piai, V, Voermans, N, van Rossum, MM, Hartel, B P, Lelieveld, SH, Wiel, L, Verbist, B, Rotteveel, LJ, van Dooren, Marieke, Lichtner, P, Kunst, HPM, Feenstra, I, Admiraal, RJC, Yntema, HG, Hoefsloot, EH, Pennings, RJE, Kremer, H, Wesdorp, M, Gans, P, Schraders, M, Oostrik, J, Huynen, MA, Venselaar, H, Beynon, AJ, van Gaalen, J, Piai, V, Voermans, N, van Rossum, MM, Hartel, B P, Lelieveld, SH, Wiel, L, Verbist, B, Rotteveel, LJ, van Dooren, Marieke, Lichtner, P, Kunst, HPM, Feenstra, I, Admiraal, RJC, Yntema, HG, Hoefsloot, EH, Pennings, RJE, and Kremer, H

Published
2018

4. New insights into the aetiology of scrotal cancer, a nationwide case-control study in the Netherlands

Author

Verhoeven, RHA, Aben, KKH, van Rossum, MM, Reedijk, AM, Botterweck, AA, Veerbeek, L (Laetitia), Visser, O (Otto), van der Aa, MA, Ho, VKY, Coebergh, Jan Willem, Kiemeney, LALM, Public Health, and Internal Medicine

Subjects
endocrine system, endocrine system diseases, SDG 3 - Good Health and Well-being, urogenital system, urologic and male genital diseases
Abstract

Background Although scrotal cancer is traditionally regarded as an occupational disease, there is increasing evidence that factors which are involved in cutaneous and genital carcinogenesis might play a role in the carcinogenesis of scrotal cancer. Objective This exploratory study aimed to detect exposures that might have an aetiological relation with scrotal cancer. Methods A nationwide population-based case-control study was conducted in the Netherlands. The patients were identified through the Netherlands cancer registry. Controls were recruited among acquaintances of the cancer registry registrars. The participants completed a questionnaire that included questions on occupational exposures, naked sunbathing, use of sunbeds, skin diseases and their treatments, treatments for cancer and sexually transmitted diseases. Age-adjusted odds-ratios (ORs) were calculated. Results Forty-seven scrotal cancer patients and 125 controls completed the questionnaire. The patients were categorized according to histology of the scrotal tumours. Having had a skin disease (OR=6.3, 95% CI=1.8-22), especially psoriasis (OR=8.7), increased the risk of squamous cell carcinomas (SCC) of the scrotum. A previous cancer diagnosis may affect the risk of scrotal basal cell carcinomas (BCC; OR=4.9, 95% CI=0.9-27.3). Furthermore, an association between the number of sexual partners and the occurrence of scrotal sarcoma was found. Conclusion Scrotal SCCs may be related with skin diseases or skin disease treatments. Having had cancer may be a risk factor for a BCC of the scrotum. Scrotal sarcomas seem to be correlated with the number of sexual partners. This study suggests that scrotal cancer has characteristics of both cutaneous and genital carcinogenesis.

Published
2014

5. A variant in FTO shows association with melanoma risk not due to BMI

Author

Iles, Mm, Law, Mh, Stacey, Sn, Han, J, Fang, S, Pfeiffer, R, Harland, M, Macgregor, S, Taylor, Jc, Aben, Kk, Akslen, La, Avril, M, Azizi, E, Bakker, B, Benediktsdottir, Kr, Bergman, W, Scarrà, Gb, Brown, Km, Calista, D, Chaudru, V, Fargnoli, Mc, Cust, Ae, Demenais, F, De Waal, Ac, Dębniak, T, Elder, De, Friedman, E, Galan, P, Ghiorzo, P, Gillanders, Em, Goldstein, Am, Gruis, Na, Hansson, J, Helsing, P, Hočevar, M, Höiom, V, Hopper, Jl, Ingvar, C, Janssen, M, Jenkins, Ma, Kanetsky, Pa, Kiemeney, La, Lang, J, Lathrop, Gm, Leachman, S, Lee, Je, Lubiński, J, Mackie, Rm, Mann, Gj, Martin, Ng, Mayordomo, Ji, Molven, A, Mulder, S, Nagore, E, Novaković, S, Okamoto, I, Olafsson, Jh, Olsson, H, Pehamberger, H, Peris, Ketty, Grasa, Mp, Planelles, D, Puig, S, Puig Butille, Ja, Randerson Moor, J, Requena, C, Rivoltini, L, Rodolfo, M, Santinami, M, Sigurgeirsson, B, Snowden, H, Song, F, Sulem, P, Thorisdottir, K, Tuominen, R, Van Belle, P, Van Der Stoep, N, Van Rossum, Mm, Wei, Q, Wendt, J, Zelenika, D, Zhang, M, Landi, Mt, Thorleifsson, G, Bishop, Dt, Amos, Ci, Hayward, Nk, Stefansson, K, Bishop, Jan, Barrett, Jh, Peris, Ketty (ORCID:0000-0002-5237-0463), Iles, Mm, Law, Mh, Stacey, Sn, Han, J, Fang, S, Pfeiffer, R, Harland, M, Macgregor, S, Taylor, Jc, Aben, Kk, Akslen, La, Avril, M, Azizi, E, Bakker, B, Benediktsdottir, Kr, Bergman, W, Scarrà, Gb, Brown, Km, Calista, D, Chaudru, V, Fargnoli, Mc, Cust, Ae, Demenais, F, De Waal, Ac, Dębniak, T, Elder, De, Friedman, E, Galan, P, Ghiorzo, P, Gillanders, Em, Goldstein, Am, Gruis, Na, Hansson, J, Helsing, P, Hočevar, M, Höiom, V, Hopper, Jl, Ingvar, C, Janssen, M, Jenkins, Ma, Kanetsky, Pa, Kiemeney, La, Lang, J, Lathrop, Gm, Leachman, S, Lee, Je, Lubiński, J, Mackie, Rm, Mann, Gj, Martin, Ng, Mayordomo, Ji, Molven, A, Mulder, S, Nagore, E, Novaković, S, Okamoto, I, Olafsson, Jh, Olsson, H, Pehamberger, H, Peris, Ketty, Grasa, Mp, Planelles, D, Puig, S, Puig Butille, Ja, Randerson Moor, J, Requena, C, Rivoltini, L, Rodolfo, M, Santinami, M, Sigurgeirsson, B, Snowden, H, Song, F, Sulem, P, Thorisdottir, K, Tuominen, R, Van Belle, P, Van Der Stoep, N, Van Rossum, Mm, Wei, Q, Wendt, J, Zelenika, D, Zhang, M, Landi, Mt, Thorleifsson, G, Bishop, Dt, Amos, Ci, Hayward, Nk, Stefansson, K, Bishop, Jan, Barrett, Jh, and Peris, Ketty (ORCID:0000-0002-5237-0463)

Abstract

We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 × 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanoma-susceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.

Published
2013

6. Incidence of cancer in first-degree relatives of basal cell carcinoma patients

Author

van Rossum, MM, Wopereis, D, Hoyer, T, Soerjomataram, Isabelle, Schalkwijk, J, van de Kerkhof, PCM, Kiemeney, LALM, Hoogerbrugge, N, van Rossum, MM, Wopereis, D, Hoyer, T, Soerjomataram, Isabelle, Schalkwijk, J, van de Kerkhof, PCM, Kiemeney, LALM, and Hoogerbrugge, N

Abstract

There is evidence to suggest that genetic factors play an important role in the development of basal cell carcinomas (BCCs), and that skin neoplasms might be a sign for a genetic predisposition to cancer. We investigated whether the incidence of visceral and skin malignancies among first-degree relatives of BCC-patients was increased. Postal questionnaires were sent to 249 BCC-patients, who were divided into two groups (young = BCC under the age of 51 years and older = BCC over the age of 50 years), and asked them about cancer in their first-degree relatives. The reported numbers of cancer among the relatives were compared with the expected numbers based on sex and age-specific population-based incidence rates. The accuracy of the reported diagnoses was verified. A total of 157 BCC-patients reported 277 malignancies in 1,272 relatives. The incidence of the following cancers was higher than expected in relatives from young BCC-patients: bone and soft tissue (O/E = 3.91; 95% CI: 1.43-8.66), skin (O/E = 2.13; 95% CI: 1.30-3.29) and digestive tract (O/E = 1.59; 95% CI: 1.10-2.23). In relatives of older BCC-patients, only the incidence of digestive tract cancer was higher than expected (O/E = 1.44; 95% CI: 1.08-1.89). Diagnoses that were verified turned out to be accurate in 87% of the cases. This study suggests that the risk of certain cancers, particularly that of the digestive tract, in first-degree relatives of BCC-patients is increased. These findings may indicate a genetic predisposition to both skin and visceral malignancies in this patient group.

Published
2009

11. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Author

Rafnar, T., Tj&#248, nneland, A., Grasa, P., Mates, D., Jinga, V., Hansen, T., Sigurgeirsson, B., Nagore, E., Hemminki, K., Badescu, D., Panadero, A., Steinthorsdottir, V., J&#248, rgensen, T., Rudnai, P., Mayordomo, Ji, Stacey, Sn, Helfand, Bt, Peters, Wh, Garci&#769, a-prats, Md, Lachance, Dh, Jenkins, Rb, Agnarsson, Ba, Gurzau, E., Sulem, P., Banasik, K., Masson, G., Thorisdottir, K., Constantinescu, V., Corredera, C., Rossum, Mm, Overvad, K., Requena, C., Ragnarsson, R., Kristjansdottir, S., Jonsson, T., Planelles, D., Fuertes, F., Badea, P., Mates, In, Johannsson, Ot, Jinga, M., Rice, T., Constantin, A., Wrensch, M., Sigurdsson, H., Spronsen, Dj, Hamdy, Fc, Kumar, R., Oort, Im, Johannsdottir, H., Tryggvadottir, L., Rivera, F., Stefansson, T., Dinu, DE, Keku, To, Moller, Ph, Kosel, Ml, Csiki, Ie, Gudjonsson, Sa, Benediktsdottir, Kr, Decker, Pa, Sandler, Rs, Aben, Kk, Pedersen, O., Wiencke, J., Soriano, V., Sanambrosio, E., Navarrete, S., Garcia, A., Jonsson, E., Barkardottir, Rb, Stefansson, K., Neal, DE, Gudbjartsson, Df, Juan, A., Donovan, Jl, Codreanu, O., Lindblom, A., Fuentelsaz, V., Gudmundsson, J., Witte, Dr, Kiemeney, La, Xiao, Y., Kong, A., Jonasdottir, A., Olafsson, Jh, Cremers, Rg, Nex&#248, Einarsson, Gv, Hansen, Hm, Helgadottir, Ht, Catalona, Wj, Magnusson, Ot, O Neill, Bp, Thorleifsson, G., Sigurdsson, F., Thorsteinsdottir, U., Valdimarsson, T., Vogel, U., Jonasson, Jg, Schalken, Ja, Sigurdsson, A., and Koppova, K.

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