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6 results on '"Akslen, L.A."'

1. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author

Landi, M.T. Bishop, D.T. MacGregor, S. Machiela, M.J. Stratigos, A.J. Ghiorzo, P. Brossard, M. Calista, D. Choi, J. Fargnoli, M.C. Zhang, T. Rodolfo, M. Trower, A.J. Menin, C. Martinez, J. Hadjisavvas, A. Song, L. Stefanaki, I. Scolyer, R. Yang, R. Goldstein, A.M. Potrony, M. Kypreou, K.P. Pastorino, L. Queirolo, P. Pellegrini, C. Cattaneo, L. Zawistowski, M. Gimenez-Xavier, P. Rodriguez, A. Elefanti, L. Manoukian, S. Rivoltini, L. Smith, B.H. Loizidou, M.A. Del Regno, L. Massi, D. Mandala, M. Khosrotehrani, K. Akslen, L.A. Amos, C.I. Andresen, P.A. Avril, M.-F. Azizi, E. Soyer, H.P. Bataille, V. Dalmasso, B. Bowdler, L.M. Burdon, K.P. Chen, W.V. Codd, V. Craig, J.E. Dębniak, T. Falchi, M. Fang, S. Friedman, E. Simi, S. Galan, P. Garcia-Casado, Z. Gillanders, E.M. Gordon, S. Green, A. Gruis, N.A. Hansson, J. Harland, M. Harris, J. Helsing, P. Henders, A. Hočevar, M. Höiom, V. Hunter, D. Ingvar, C. Kumar, R. Lang, J. Lathrop, G.M. Lee, J.E. Li, X. Lubiński, J. Mackie, R.M. Malt, M. Malvehy, J. McAloney, K. Mohamdi, H. Molven, A. Moses, E.K. Neale, R.E. Novaković, S. Nyholt, D.R. Olsson, H. Orr, N. Fritsche, L.G. Puig-Butille, J.A. Qureshi, A.A. Radford-Smith, G.L. Randerson-Moor, J. Requena, C. Rowe, C. Samani, N.J. Sanna, M. Schadendorf, D. Schulze, H.-J. Simms, L.A. Smithers, M. Song, F. Swerdlow, A.J. van der Stoep, N. Kukutsch, N.A. Visconti, A. Wallace, L. Ward, S.V. Wheeler, L. Sturm, R.A. Hutchinson, A. Jones, K. Malasky, M. Vogt, A. Zhou, W. Pooley, K.A. Elder, D.E. Han, J. Hicks, B. Hayward, N.K. Kanetsky, P.A. Brummett, C. Montgomery, G.W. Olsen, C.M. Hayward, C. Dunning, A.M. Martin, N.G. Evangelou, E. Mann, G.J. Long, G. Pharoah, P.D.P. Easton, D.F. Barrett, J.H. Cust, A.E. Abecasis, G. Duffy, D.L. Whiteman, D.C. Gogas, H. De Nicolo, A. Tucker, M.A. Newton-Bishop, J.A. Peris, K. Chanock, S.J. Demenais, F. Brown, K.M. Puig, S. Nagore, E. Shi, J. Iles, M.M. Law, M.H. GenoMEL Consortium Q-MEGA QTWIN Investigators ATHENS Melanoma Study Group 23andMe The SDH Study Group IBD Investigators Essen-Heidelberg Investigators AMFS Investigators MelaNostrum Consortium

Abstract

Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P < 5 × 10−8) loci with 68 independent single nucleotide polymorphisms. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with GWAS of nevus count and hair color, and transcriptome association approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility loci. These findings provide insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation and telomere maintenance, together with identifying potential new pathways for cutaneous melanoma pathogenesis. © 2020, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.

Published
2020

2. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

Author

Duffy, D.L., Zhu, G., Li, X., Sanna, M., Iles, M.M., Jacobs, L.C., Evans, D.M., Yazar, S., Beesley, J., Law, M.H., Kraft, P., Visconti, A., Taylor, J.C., Liu, F., Wright, M.J., Henders, A.K., Bowdler, L., Glass, D., Ikram, M.A., Uitterlinden, A.G., Madden, P.A., Heath, A.C., Nelson, E.C., Green, A.C., Chanock, S., Barrett, J.H., Brown, M.A., Hayward, N.K., MacGregor, S., Sturm, R.A., Hewitt, A.W., Kayser, M., Hunter, D.J., Bishop, J.A.N., Spector, T.D., Montgomery, G.W., Mackey, D.A., Smith, G.D., Nijsten, T.E., Bishop, D.T., Bataille, V., Falchi, M., Han, J., Martin, N.G., Lee, J.E., Brossard, M., Moses, E.K., Song, F., Kumar, R., Easton, D.F., Pharoah, P.D.P., Swerdlow, A.J., Kypreou, K.P., Harland, M., Randerson-Moor, J., Akslen, L.A., Andresen, P.A., Avril, M.F., Azizi, E., Scarra, G.B., Brown, K.M., Debniak, T., Elder, D.E., Fang, S.Y., Friedman, E., Galan, P., Ghiorzo, P., Gillanders, E.M., Goldstein, A.M., Gruis, N.A., Hansson, J., Helsing, P., Hocevar, M., Hoiom, V., Ingvar, C., Kanetsky, P.A., Chen, W.V., Landi, M.T., Lang, J., Lathrop, G.M., Lubinski, J., Mackie, R.M., Mann, G.J., Molven, A., Novakovic, S., Olsson, H., Puig, S., Puig-Butille, J.A., Radford-Smith, G.L., Stoep, N. van der, Doorn, R. van, Whiteman, D.C., Craig, J.E., Schadendorf, D., Simms, L.A., Burdon, K.P., Nyholt, D.R., Pooley, K.A., Orr, N., Stratigos, A.J., Cust, A.E., Ward, S.V., Schulze, H.J., Dunning, A.M., Demenais, F., Amos, C.I., and Melanoma GWAS Consortium

Published
2019

3. Genome-wide association study identifies three new melanoma susceptibility loci

Author

Barrett, J.H., Iles, M.M., Harland, M., Taylor, J.C., Aitken, J.F., Andresen, P.A., Akslen, L.A., Armstrong, B.K., Avril, M.F., Azizi, E., Bakker, B., Bergman, W., Bianchi-Scarra, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L.A., Corda, E., Cust, A.E., Debniak, T., Duffy, D., Dunning, A.M., Easton, D.F., Friedman, E., Galan, P., Ghiorzo, P., Giles, G.G., Hansson, J., Hocevar, M., Hoiom, V., Hopper, J.L., Ingvar, C., Janssen, B., Jenkins, M.A., Jonsson, G., Kefford, R.F., Landi, G., Landi, M.T., Lang, J., Lubinski, J., Mackie, R., Malvehy, J., Martin, N.G., Molven, A., Montgomery, G.W., Nieuwpoort, F.A. van, Novakovic, S., Olsson, H., Pastorino, L., Puig, S., Puig-Butille, J.A., Randerson-Moor, J., Snowden, H., Tuominen, R., VanBelle, P., Stoep, N. van der, Whiteman, D.C., Zelenika, D., Han, J.L., Fang, S.Y., Lee, J.E., Wei, Q.Y., Lathrop, G.M., Gillanders, E.M., Brown, K.M., Goldstein, A.M., Kanetsky, P.A., Mann, G.J., MacGregor, S., Elder, D.E., Amos, C.I., Hayward, N.K., Gruis, N.A., Demenais, F., Bishop, J.A.N., Bishop, D.T., and GenoMEL Consortium

Published
2011

4. Genome-wide association study identifies three new melanoma susceptibility loci

Author

Barrett, J.H., Iles, M.M., Harland, M., Taylor, J.C., Aitken, J.F., Andresen, P.A., Akslen, L.A., Armstrong, B.K., Avril, M.F., Azizi, E., Bakker, B., Bergman, W., Bianchi-Scarra, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L.A., Corda, E., Cust, A.E., Debniak, T., Duffy, D., Dunning, A.M., Easton, D.F., Friedman, E., Galan, P., Ghiorzo, P., Giles, G.G., Hansson, J., Hocevar, M., Hoiom, V., Hopper, J.L., Ingvar, C., Janssen, B., Jenkins, M.A., Jonsson, G., Kefford, R.F., Landi, G., Landi, M.T., Lang, J., Lubinski, J., Mackie, R., Malvehy, J., Martin, N.G., Molven, A., Montgomery, G.W., Nieuwpoort, F.A. van, Novakovic, S., Olsson, H., Pastorino, L., Puig, S., Puig-Butille, J.A., Randerson-Moor, J., Snowden, H., Tuominen, R., VanBelle, P., Stoep, N. van der, Whiteman, D.C., Zelenika, D., Han, J.L., Fang, S.Y., Lee, J.E., Wei, Q.Y., Lathrop, G.M., Gillanders, E.M., Brown, K.M., Goldstein, A.M., Kanetsky, P.A., Mann, G.J., MacGregor, S., Elder, D.E., Amos, C.I., Hayward, N.K., Gruis, N.A., Demenais, F., Bishop, J.A.N., Bishop, D.T., and GenoMEL Consortium

Published
2011

5. Subtyping of Breast Cancer by Immunohistochemistry to\ud Investigate a Relationship between Subtype and Short\ud and Long Term Survival: A Collaborative Analysis of Data\ud for 10,159 Cases from 12 Studies

Author

Blows, F.M., Driver, K.E., Schmidt, M.K., Broeks, A., van Leeuwen, F.E., Wesseling, J., Cheang, M.C., Gelmon, K., Nielsen, T.O., Blomqvist, C., Heikkila, P., Heikkinen, T., Nevanlinna, H., Akslen, L.A., Begin, L.R., Foulkes, W.D., Couch, F.J., Wang, X., Cafourek, V., Olson, J.E., Baglietto, L., Giles, G.G., Severi, G., McLean, C.A., Southey, M.C., Rakha, E., Green, A.R., Ellis, I.O., Sherman, M.E., Lissowska, J., Anderson, W.F., Cox, A., Cross, S.S., Reed, M.W.R., Provenzano, E., Dawson, S.J., Dunning, A.M., Humphreys, M., Easton, D.F., Garcia-Closas, M., Caldas, C., Pharoah, P.D., and Huntsman, D.

Subjects
skin and connective tissue diseases
Abstract

Background: Immunohistochemical markers are often used to classify breast cancer into subtypes that are biologically\ud distinct and behave differently. The aim of this study was to estimate mortality for patients with the major subtypes of\ud breast cancer as classified using five immunohistochemical markers, to investigate patterns of mortality over time, and to\ud test for heterogeneity by subtype.\ud Methods and Findings: We pooled data from more than 10,000 cases of invasive breast cancer from 12 studies that had\ud collected information on hormone receptor status, human epidermal growth factor receptor-2 (HER2) status, and at least\ud one basal marker (cytokeratin [CK]5/6 or epidermal growth factor receptor [EGFR]) together with survival time data.\ud Tumours were classified as luminal and nonluminal tumours according to hormone receptor expression. These two groups\ud were further subdivided according to expression of HER2, and finally, the luminal and nonluminal HER2-negative tumours\ud were categorised according to expression of basal markers. Changes in mortality rates over time differed by subtype. In\ud women with luminal HER2-negative subtypes, mortality rates were constant over time, whereas mortality rates associated\ud with the luminal HER2-positive and nonluminal subtypes tended to peak within 5 y of diagnosis and then decline over time.\ud In the first 5 y after diagnosis the nonluminal tumours were associated with a poorer prognosis, but over longer follow-up\ud times the prognosis was poorer in the luminal subtypes, with the worst prognosis at 15 y being in the luminal HER2-positive\ud tumours. Basal marker expression distinguished the HER2-negative luminal and nonluminal tumours into different subtypes.\ud These patterns were independent of any systemic adjuvant therapy.\ud Conclusions: The six subtypes of breast cancer defined by expression of five markers show distinct behaviours with\ud important differences in short term and long term prognosis. Application of these markers in the clinical setting could have\ud the potential to improve the targeting of adjuvant chemotherapy to those most likely to benefit. The different patterns of\ud mortality over time also suggest important biological differences between the subtypes that may result in differences in\ud response to specific therapies, and that stratification of breast cancers by clinically relevant subtypes in clinical trials is\ud urgently required.

Published
2010

6. Low frequency of BRAF and CDKN2A mutations in endometrial cancer

Author

Salvesen HB, Kumar R, Stefansson I, MacDonald N, Smeds J, Jacobs IJ, Hemminki K, Das S, Akslen L.A., ANGELINI, SABRINA, Salvesen HB, Kumar R, Stefansson I, Angelini S, MacDonald N, Smeds J, Jacobs IJ, Hemminki K, Das S, and Akslen LA.

Published
2005

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