Photo of Lauri Aaltonen
  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

  • Finland

  • PL 63 (Haartmaninkatu 8), B514b2

    HELSINGIN YLIOPISTO

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

1992 …2019
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Publications 1992 2019

2013

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals

Dunlop, M. G., Tenesa, A., Farrington, S. M., Ballereau, S., Brewster, D. H., Koessler, T., Pharoah, P., Schafmayer, C., Hampe, J., Voelzke, H., Chang-Claude, J., Hoffmeister, M., Brenner, H., von Holst, S., Picelli, S., Lindblom, A., Jenkins, M. A., Hopper, J. L., Casey, G., Duggan, D. & 26 othersNewcomb, P. A., Abuli, A., Bessa, X., Ruiz-Ponte, C., Castellvi-Bel, S., Niittymaeki, I., Tuupanen, S., Karhu, A., Aaltonen, L., Zanke, B., Hudson, T., Gallinger, S., Barclay, E., Martin, L., Gorman, M., Carvajal-Carmona, L., Walther, A., Kerr, D., Lubbe, S., Broderick, P., Chandler, I., Pittman, A., Penegar, S., Campbell, H., Tomlinson, I. & Houlston, R. S., Jun 2013, In : Gut. 62, 6, p. 871-881 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants

Kilpivaara, O. & Aaltonen, L. A., 29 Mar 2013, In : Science. 339, 6127, p. 1559-1562 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Eleven Candidate Susceptibility Genes for Common Familial Colorectal Cancer

Gylfe, A. E., Katainen, R., Kondelin, J., Tanskanen, T., Cajuso Pons, T., Hänninen, U., Taipale, J., Taipale, M., Renkonen-Sinisalo, L., Järvinen, H., Mecklin, J-P., Kilpivaara, O., Pitkänen, E., Vahteristo, P., Tuupanen, S., Karhu, A. & Aaltonen, L. A., 18 Oct 2013, In : PLoS Genetics. 9, 10, 8 p., e1003876.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients

Tanskanen, T., Gylfe, A. E., Katainen, R., Taipale, M., Renkonen-Sinisalo, L., Mecklin, J-P., Järvinen, H., Tuupanen, S., Kilpivaara, O., Vahteristo, P. & Aaltonen, L. A., Jun 2013, In : Scandinavian Journal of Gastroenterology. 48, 6, p. 672-678 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene

Beckers, A., Aaltonen, L. A., Daly, A. F. & Karhu, A., Apr 2013, In : Endocrine Reviews. 34, 2, p. 239-277 39 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

High Familial Risk in Nodular Lymphocyte-Predominant Hodgkin Lymphoma

Saarinen, S., Pukkala, E., Vahteristo, P., Makinen, M. J., Franssila, K. & Aaltonen, L. A., 1 Mar 2013, In : Journal of Clinical Oncology. 31, 7, p. 938-943 6 p.

Research output: Contribution to journalArticleScientificpeer-review

HOXB13 G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk

Laitinen, V. H., Wahlfors, T., Saaristo, L., Rantapero, T., Pelttari, L. M., Kilpivaara, O., Laasanen, S-L., Kallioniemi, A., Nevanlinna, H., Aaltonen, L., Vessella, R. L., Auvinen, A., Visakorpi, T., Tammela, T. L. J. & Schleutker, J., Mar 2013, In : Cancer Epidemiology, Biomarkers & Prevention. 22, 3, p. 452-460 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of Candidate Oncogenes in Human Colorectal Cancers With Microsatellite Instability

Gylfe, A. E., Kondelin, J., Turunen, M., Ristolainen, H., Katainen, R., Pitkänen, E., Kaasinen, E., Rantanen, V., Tanskanen, T., Varjosalo, M., Lehtonen, H., Palin, K., Taipale, M., Taipale, J., Renkonen-Sinisalo, L., Järvinen, H., Bohm, J., Mecklin, J-P., Ristimäki, A., Kilpivaara, O. & 4 othersTuupanen, S., Karhu, A., Vahteristo, P. & Aaltonen, L. A., Sep 2013, In : Gastroenterology. 145, 3, p. 540-+ 26 p.

Research output: Contribution to journalArticleScientificpeer-review

Lessons from Functional Analysis of Genome-Wide Association Studies

Sur, I., Tuupanen, S., Whitington, T., Aaltonen, L. A. & Taipale, J., 15 Jul 2013, In : Cancer Research. 73, 14, p. 4180-4184 5 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

MED12 exon 2 mutations in histopathological uterine leiomyoma variants

Mäkinen, N., Vahteristo, P., Kämpjärvi, K., Arola, J., Butzow, R. & Aaltonen, L. A., Nov 2013, In : European Journal of Human Genetics. 21, 11, p. 1300-1303 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Nationwide Registry-Based Analysis of Cancer Clustering Detects Strong Familial Occurrence of Kaposi Sarcoma

Kaasinen, E., Aavikko, M., Vahteristo, P., Patama, T., Li, Y., Saarinen, S., Kilpivaara, O., Pitkänen, E., Knekt, P., Laaksonen, M., Lehtonen, R., Artama, M., Aaltonen, L. A. & Pukkala, E., 24 Jan 2013, In : PLoS One. 8, 1, p. Article Number: e55209 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Prevalence of Germline PTEN, BMPR1A, SMAD4, STK11, and ENG Mutations in Patients With Moderate- Load Colorectal Polyps

Ngeow, J., Heald, B., Rybicki, L. A., Orloff, M. S., Chen, J. L., Liu, X., Yerian, L., Willis, J., Lehtonen, H. J., Lehtonen, R., Mester, J. L., Moline, J., Burke, C. A., Church, J., Aaltonen, L. A. & Eng, C., Jun 2013, In : Gastroenterology. 144, 7, p. 1402-U149 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene

Saarinen, S., Kaasinen, E., Karjalainen-Lindsberg, M., Vesanen, K., Aavikko, M., Katainen, R., Taskinen, M., Kytola, S., Leppä, S. M., Hietala, M., Vahteristo, P. & Aaltonen, L. A., 25 Apr 2013, In : Blood. 121, 17, p. 3428-3430 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Trilateral Retinoblastoma in a Patient With Peutz-Jeghers Syndrome

Raizis, A. M., Van Mater, D., Aaltonen, L. A., Lohmann, D., Cheale, M. S., Bickley, V. M., George, P. M., Zhou, Y. & Rosoff, P. M., May 2013, In : American Journal of Medical Genetics. Part A. 161A, 5, p. 1096-1100 5 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer

Pelttari, L. M., Kiiski, J., Nurminen, R., Kallioniemi, A., Schleutker, J., Gylfe, A., Aaltonen, L. A., Leminen, A., Heikkilä, P., Blomqvist, C., Butzow, R., Aittomäki, K. & Nevanlinna, H., 2012, In : Journal of Medical Genetics. 49, 7, p. 429-432 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

Saarinen, S., Vahteristo, P., Lehtonen, R., Aittomäki, K., Launonen, V., Kiviluoto, T. & Aaltonen, L. A., Sep 2012, In : Familial Cancer. 11, 3, p. 525-528 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Brush border Myosin Ia has tumor suppressor activity in the intestine

Mazzolini, R., Dopeso, H., Mateo-Lozano, S., Chang, W., Rodrigues, P., Bazzocco, S., Alazzouzi, H., Landolfi, S., Hernandez-Losa, J., Andretta, E., Alhopuro, P., Espin, E., Armengol, M., Tabernero, J., Ramon y Cajal, S., Kloor, M., Gebert, J., Mariadason, J. M., Schwartz, S., Aaltonen, L. A. & 2 othersMooseker, M. S. & Arango, D., 31 Jan 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 5, p. 1530-1535 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Candidate driver genes in microsatellite-unstable colorectal cancer

Alhopuro, P. P., Sammalkorpi, H. P., Niittymäki, I., Biström, M., Raitila, A., Saharinen, J. M. N., Nousiainen, K. J., Lehtonen, H., Heliövaara, E., Puhakka, J., Tuupanen, S., Sousa, S., Seruca, R., Ferreira, A. M., Hofstra, R. M. W., Mecklin, J-P., Järvinen, H., Ristimäki, A., Orntoft, T. F., Hautaniemi, S. & 3 othersArango, D., Karhu, A. I. & Aaltonen, L. A., 2012, In : International Journal of Cancer. 130, 7, p. 1558–1566 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583

Tuupanen, S., Yan, J., Turunen, M., Gylfe, A. E., Kaasinen, E., Li, L., Eng, C., Culver, D. A., Kalady, M. F., Pennison, M. J., Pasche, B., Manne, U., de la Chapelle, A., Hampel, H., Henderson, B. E., Le Marchand, L., Hautaniemi, S., Askhtorab, H., Smoot, D., Sandler, R. S. & 6 othersKeku, T., Kupfer, S. S., Ellis, N. A., Haiman, C. A., Taipale, J. & Aaltonen, L. A., 2012, In : Cancer Genetics. 205, 1-2, p. 25-33 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Dunlop, M. G., Dobbins, S. E., Farrington, S. M., Jones, A. M., Palles, C., Whiffin, N., Tenesa, A., Spain, S., Broderick, P., Ooi, L-Y., Domingo, E., Smillie, C., Henrion, M., Frampton, M., Martin, L., Grimes, G., Gorman, M., Semple, C., Ma, Y. P., Barclay, E. & 31 othersPrendergast, J., Cazier, J-B., Olver, B., Penegar, S., Lubbe, S., Chander, I., Carvajal-Carmona, L. G., Ballereau, S., Lloyd, A., Vijayakrishnan, J., Zgaga, L., Rudan, I., Theodoratou, E., Starr, J. M., Deary, I., Kirac, I., Kovacevic, D., Aaltonen, L. A., Renkonen-Sinisalo, L., Mecklin, J-P., Matsuda, K., Nakamura, Y., Okada, Y., Gallinger, S., Duggan, D. J., Conti, D., Newcomb, P., Hopper, J., Jenkins, M. A., Schumacher, F. & Swedish Low-Risk Colorectal Canc, Coin Collaborative Grp, Colorectal Tumour Gene Identificat, 2012, In : Nature Genetics. 44, 7, p. 770-U197 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of Lynch Syndrome Among Patients With Colorectal Cancer

EPICOLON Consortium, 17 Oct 2012, In : JAMA : The Journal of the American Medical Association. 308, 15, p. 1555-1565 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Loss of SUFU Function in Familial Multiple Meningioma

Aavikko, M., Li, S-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Pöyhönen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J. & Vahteristo, P., 7 Sep 2012, In : American Journal of Human Genetics. 91, 3, p. 520-526 7 p.

Research output: Contribution to journalArticleScientificpeer-review

MED12 exon 2 mutations in common and histopathological variants of uterine leiomyoma and leiomyosarcoma

Makinen, N., Arola, J., Vahteristo, P., Lehtonen, H. J., Heinonen, H., Butzow, R. & Aaltonen, L. A., Oct 2012, In : Histopathology. 61, p. 101-101 1 p.

Research output: Contribution to journalMeeting AbstractResearchpeer-review

Mice Lacking a Myc Enhancer That Includes Human SNP rs6983267 Are Resistant to Intestinal Tumors

Sur, I. K., Hallikas, O., Vähärautio, A. V., Yan, J., Turunen, M., Enge, M., Taipale, M., Karhu, A., Aaltonen, L. A. & Taipale, J., 7 Dec 2012, In : Science. 338, 6112, p. 1360-1363 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Spain, S. L., Carvajal-Carmona, L. G., Howarth, K. M., Jones, A. M., Su, Z., Cazier, J-B., Williams, J., Aaltonen, L. A., Pharoah, P., Kerr, D. J., Cheadle, J., Li, L., Casey, G., Vodicka, P., Sieber, O., Lipton, L., Gibbs, P., Martin, N. G., Montgomery, G. W., Young, J. & 11 othersBaird, P. N., Morreau, H., van Wezel, T., Ruiz-Ponte, C., Fernandez-Rozadilla, C., Carracedo, A., Castells, A., Castellvi-Bel, S., Dunlop, M., Houlston, R. S. & Tomlinson, I. P. M., 15 Feb 2012, In : Human Molecular Genetics. 21, 4, p. 934-946 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Rule-based induction method for haplotype comparison and identification of candidate disease loci

Karinen, S. H., Saarinen, S., Lehtonen, R. J., Rastas, P., Vahteristo, P. M., Aaltonen, L. A. & Hautaniemi, S., 2012, In : Genome medicine. 4, 3, p. 21

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients

Pelttari, L. M., Nurminen, R., Gylfe, A., Aaltonen, L. A., Schleutker, J. & Nevanlinna, H., 23 Nov 2012, In : BMC Cancer. 12, Article Number: 552, 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Segregation of a Missense Variant in Enteric Smooth Muscle Actin gamma-2 With Autosomal Dominant Familial Visceral Myopathy

Lehtonen, H. J., Sipponen, T., Tojkander, S., Karikoski, R., Jarvinen, H., Laing, N. G., Lappalainen, P., Aaltonen, L. A. & Tuupanen, S., Dec 2012, In : Gastroenterology. 143, 6, p. 1482-+ 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer

Kämpjärvi, K., Mäkinen, N., Kilpivaara, O., Arola, J., Heinonen, H-R., Bohm, J., Abdel-Wahab, O., Lehtonen, H. J., Pelttari, L. M., Mehine, M., Schrewe, H., Nevanlinna, H., Levine, R. L., Hokland, P., Bohling, T., Mecklin, J-P., Butzow, R., Aaltonen, L. A. & Vahteristo, P., 6 Nov 2012, In : British Journal of Cancer. 107, 10, p. 1761-1765 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening

Tolvanen, J., Uimari, O., Ryynanen, M., Aaltonen, L. A. & Vahteristo, P., 2012, In : Human Reproduction. 27, 6, p. 1865-1869 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Villin Expression Is Frequently Lost in Poorly Differentiated Colon Cancer

Arango, D., Al-Obaidi, S., Williams, D. S., Dopeso, H., Mazzolini, R., Corner, G., Byun, D-S., Carr, A. A., Murone, C., Toegel, L., Zeps, N., Aaltonen, L. A., Iacopetta, B. & Mariadason, J. M., 2012, In : The American Journal of Pathology. 180, 4, p. 1509-1521 13 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status

Bardella, C., El-Bahrawy, M., Frizzell, N., Adam, J., Ternette, N., Hatipoglu, E., Howarth, K., O'Flaherty, L., Roberts, I., Turner, G., Taylor, J., Giaslakiotis, K., Macaulay, V. M., Harris, A. L., Chandra, A., Lehtonen, H. J., Launonen, V., Aaltonen, L. A., Pugh, C. W., Mihai, R. & 6 othersTrudgian, D., Kessler, B., Baynes, J. W., Ratcliffe, P. J., Tomlinson, I. P. & Pollard, P. J., 2011, In : Journal of Pathology. 225, 1, p. 4-11 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma

Saarinen, S., Vahteristo, P., Launonen, V., Franssila, K., Kivirikko, S., Lehtonen, R., Bain, B. J., Bauduer, F., Unal, A., Aaltonen, L. A. & Aittomaki, K., 2011, In : British Journal of Haematology. 154, 3, p. 413-415 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Äyräpään palkinto 2011 Juha Kerelle

Puolakkainen, P., Aaltonen, L. & Alitalo, K., 2011, In : Duodecim. 127, 1, p. 94-95 2 p.

Research output: Contribution to journalArticleProfessional

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations

Stefanius, K., Kantola, T., Tuomisto, A., Vahteristo, P., Karttunen, T. J., Aaltonen, L. A., Makinen, M. J. & Karhu, A., 2011, In : Virchows Archiv. 458, 2, p. 213-219 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma

Saarinen, S., Aavikko, M., Aittomaki, K., Launonen, V., Lehtonen, R., Franssila, K., Lehtonen, H. J., Kaasinen, E., Broderick, P., Tarkkanen, J., Bain, B. J., Bauduer, F., Unal, A., Swerdlow, A. J., Cooke, R., Makinen, M. J., Houlston, R., Vahteristo, P. & Aaltonen, L. A., 2011, In : Blood. 118, 3, p. 493-498 6 p.

Research output: Contribution to journalArticleScientificpeer-review

High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint

Niittymaki, I., Gylfe, A., Laine, L., Laakso, M., Lehtonen, H. J., Kondelin, J., Tolvanen, J., Nousiainen, K., Pouwels, J., Jarvinen, H., Nuorva, K., Mecklin, J-P., Makinen, M., Ristimaki, A., Orntoft, T. F., Hautaniemi, S., Karhu, A., Kallio, M. J. & Aaltonen, L. A., 2011, In : Carcinogenesis. 32, 3, p. 305-311 7 p.

Research output: Contribution to journalArticleScientificpeer-review

KSHV-Initiated Notch Activation Leads to Membrane-Type-1MatrixMetalloproteinase-Dependent Lymphatic Endothelial-to-Mesenchymal Transition

Cheng, F., Pekkonen, P. M., Laurinavicius, S., Sugiyama, N., Henderson, S., Günther, T., Rantanen, V., Kaivanto, E., Aavikko, M., Sarek, G., Hautaniemi, S., Biberfeld, P., Aaltonen, L. A., Grundhoff, A., Boshoff, C., Alitalo, K., Lehti, K. & Ojala, P., 2011, In : Cell Host & Microbe. 10, 6, p. 577-590 14 p.

Research output: Contribution to journalArticleScientificpeer-review

KSHV-Initiated Notch Activation Leads to Membrane-Type-1 Matrix Metalloproteinase-Dependent Lymphatic Endothelial-to-Mesenchymal Transition

Cheng, F., Pekkonen, P., Laurinavicius, S., Sugiyama, N., Henderson, S., Guenther, T., Rantanen, V., Kaivanto, E., Aavikko, M., Sarek, G., Hautaniemi, S., Biberfeld, P., Aaltonen, L., Grundhoff, A., Boshoff, C., Alitalo, K., Lehti, K. & Ojala, P. M., 2011, In : Cell Host & Microbe. 10, 6, p. 577-590 14 p.

Research output: Contribution to journalArticleScientificpeer-review

MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas

Mäkinen, N., Mehine, M., Tolvanen, J., Kaasinen, E., Li, Y., Lehtonen, H. J., Gentile, M., Yan, J., Enge, M., Taipale, M., Aavikko, M., Katainen, R., Virolainen, E., Böhling, T., Koski, T. A., Launonen, V., Sjöberg, J., Taipale, J., Vahteristo, P. & Aaltonen, L. A., 2011, In : Science Progress. 334, 6053, p. 252-255 4 p.

Research output: Contribution to journalArticleScientificpeer-review

MED12 exon 2 mutations are common in uterine leiomyomas from South African patients

Mäkinen, N., Heinonen, H-R., Moore, S., Tomlinson, I. P. M., van der Spuy, Z. M. & Aaltonen, L. A., Dec 2011, In : Oncotarget. 2, 12, p. 966-969 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

Tomlinson, I. P. M., Carvajal-Carmona, L. G., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., Palles, C., Broderick, P., Jaeger, E. E. M., Farrington, S., Lewis, A., Prendergast, J. G. D., Pittman, A. M., Theodoratou, E., Olver, B., Walker, M., Penegar, S., Barclay, E., Whiffin, N., Martin, L. & 31 othersBallereau, S., Lloyd, A., Gorman, M., Lubbe, S., Howie, B., Marchini, J., Ruiz-Ponte, C., Fernandez-Rozadilla, C., Castells, A., Carracedo, A., Castellvi-Bel, S., Duggan, D., Conti, D., Cazier, J-B., Campbell, H., Sieber, O., Lipton, L., Gibbs, P., Martin, N. G., Montgomery, G. W., Young, J., Baird, P. N., Gallinger, S., Newcomb, P., Hopper, J., Jenkins, M. A., Aaltonen, L. A., Kerr, D. J., Cheadle, J., Pharoah, P. & CORGI Collaborators, COGENT Consortium, EPICOLON Consortium, 2011, In : PLoS Genetics. 7, 6, p. e1002105 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mutations in BRIP1 confer high risk of ovarian cancer

Rafnar, T., Gudbjartsson, D. F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Jonasdottir, A., Besenbacher, S., Lundin, P., Stacey, S. N., Gudmundsson, J., Magnusson, O. T., le Roux, L., Orlygsdottir, G., Helgadottir, H. T., Johannsdottir, H., Gylfason, A., Tryggvadottir, L., Jonasson, J. G., de Juan, A., Ortega, E. & 25 othersRamon-Cajal, J. M., Garcia-Prats, M. D., Mayordomo, C., Panadero, A., Rivera, F., Aben, K. K. H., van Altena, A. M., Massuger, L. F. A. G., Aavikko, M., Kujala, P. M., Staff, S., Aaltonen, L. A., Olafsdottir, K., Bjornsson, J., Kong, A., Salvarsdottir, A., Saemundsson, H., Olafsson, K., Benediktsdottir, K. R., Gulcher, J., Masson, G., Kiemeney, L. A., Mayordomo, J. I., Thorsteinsdottir, U. & Stefansson, K., 2011, In : Nature Genetics. 43, 11, p. 1104-U91 6 p.

Research output: Contribution to journalArticleScientificpeer-review

No evidence of RET germline mutations in familial pituitary adenoma

Heliovaara, E., Tuupanen, S., Ahlsten, M., Hodgson, S., de Menis, E., Kuismin, O., Izatt, L., Gardner, R. J. M., Gundogdu, S., Lucassen, A., Arola, J., Tuomisto, A., Makinen, M., Karhu, A. & Aaltonen, L. A., 2011, In : Journal of Molecular Endocrinology. 46, 1, p. 1-8 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci

Niittymäki, I., Tuupanen, S., Li, Y., Järvinen, H., Mecklin, J-P., Tomlinson, I. P. M., Houlston, R. S., Karhu, A. & Aaltonen, L. A., 2011, In : BMC Medical Genetics. 12, 6 p., 23.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

Knappskog, S., Bjornslett, M., Myklebust, L. M., Huijts, P. E. A., Vreeswijk, M. P., Edvardsen, H., Guo, Y., Zhang, X., Yang, M., Ylisaukko-oja, S. K., Alhopuro, P., Arola, J., Tollenaar, R. A. E. M., van Asperen, C. J., Seynaeve, C., Staalesen, V., Chrisanthar, R., Lokkevik, E., Salvesen, H. B., Evans, D. G. & 13 othersNewman, W. G., Lin, D., Aaltonen, L. A., Borresen-Dale, A-L., Tell, G. S., Stoltenberg, C., Romundstad, P., Hveem, K., Lillehaug, J. R., Vatten, L., Devilee, P., Dorum, A. & Lonning, P. E., 2011, In : Cancer Cell. 19, 2, p. 273-282 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Variants in the Netrin-1 Receptor UNC5C Prevent Apoptosis and Increase Risk of Familial Colorectal Cancer

Coissieux, M-M., Tomsic, J., Castets, M., Hampel, H., Tuupanen, S., Andrieu, N., Comeras, I., Drouet, Y., Lasset, C., Liyanarachchi, S., Mazelin, L., Puisieux, A., Saurin, J-C., Scoazec, J-Y., Wang, Q., Aaltonen, L., Tanner, S. M., de la Chapelle, A., Bernet, A. & Mehlen, P., 2011, In : Gastroenterology. 141, 6, p. 2039-2046 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2010

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

Theodoratou, E., Campbell, H., Tenesa, A., Houlston, R., Webb, E., Lubbe, S., Broderick, P., Gallinger, S., Croitoru, E. M., Jenkins, M. A., Win, A. K., Cleary, S. P., Koessler, T., Pharoah, P. D., Kuery, S., Bezieau, S., Buecher, B., Ellis, N. A., Peterlongo, P., Offit, K. & 12 othersAaltonen, L. A., Enholm, S., Lindblom, A., Zhou, X-L., Tomlinson, I. P., Moreno, V., Blanco, I., Capella, G., Barnetson, R., Porteous, M. E., Dunlop, M. G. & Farrington, S. M., 2010, In : British Journal of Cancer. 103, 12, p. 1875-1884 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

Pittman, A. M., Naranjo, S., Jalava, S. E., Twiss, P., Ma, Y., Olver, B., Lloyd, A., Vijayakrishnan, J., Qureshi, M., Broderick, P., van Wezel, T., Morreau, H., Tuupanen, S., Aaltonen, L. A., Eva Alonso, M., Manzanares, M., Gavilan, A., Visakorpi, T., Luis Gomez-Skarmeta, J. & Houlston, R. S., 2010, In : PLoS Genetics. 6, 9 , p. e1001126 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

Daly, A. F., Tichomirowa, M. A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M-L., Barlier, A., Naves, L. A., Ebeling, T., Karhu, A., Raappana, A., Cazabat, L., De Menis, E., Fajardo Montanana, C., Raverot, G., Weil, R. J., Sane, T., Maiter, D., Neggers, S., Yaneva, M., Tabarin, A. & 43 othersVerrua, E., Eloranta, E., Murat, A., Vierimaa, O., Salmela, P. I., Emy, P., Toledo, R. A., Isabel Sabate, M., Villa, C., Popelier, M., Salvatori, R., Jennings, J., Ferrandez Longas, A., Labarta Aizpun, J. I., Georgitsi, M., Paschke, R., Ronchi, C., Välimäki, M., Saloranta, C., De Herder, W., Cozzi, R., Guitelman, M., Magri, F., Lagonigro, M. S., Halaby, G., Corman, V., Hagelstein, M-T., Vanbellinghen, J-F., Barra, G. B., Gimenez-Roqueplo, A-P., Cameron, F. J., Borson-Chazot, F., Holdaway, I., Toledo, S. P. A., Stalla, G. K., Spada, A., Zacharieva, S., Bertherat, J., Brue, T., Bours, V., Chanson, P., Aaltonen, L. A. & Beckers, A., 2010, In : Journal of Clinical Endocrinology and Metabolism. 95, 11, p. E373-E383 11 p.

Research output: Contribution to journalArticleScientificpeer-review