Aaltonen, Lauri A.

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,496

Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,064

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

Järvinen, H. J., Aarnio, M., Mustonen, H., Aktan–Collan, K., Aaltonen, L. A., Peltomäki, P., Chapelle, A. D. L., & Mecklin, J. (2000) · Gastroenterology

Genetic factors in colorectal cancerColorectal Cancer Screening and Detection

Cited by 1,337

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

Inherited susceptibility to uterine leiomyomas and renal cell cancer

Launonen, V., Vierimaa, O., Kiuru, M., Isola, J., Roth, S., Pukkala, E., Sistonen, P., Herva, R., & Aaltonen, L. A. (2001) · Proceedings of the National Academy of Sciences

Uterine Myomas and TreatmentsRenal cell carcinoma treatment

Cited by 669

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

CTCF/cohesin-binding sites are frequently mutated in cancer

Katainen, R., Dave, K., Pitkänen, E., Palin, K., Kivioja, T., Välimäki, N., Gylfe, A. E., Ristolainen, H., Hänninen, U. A., Cajuso, T., et al. (2015) · Nature Genetics

Genetic factors in colorectal cancerCancer Genomics and Diagnostics

Cited by 447

A role for mitochondrial enzymes in inherited neoplasia and beyond

Eng, C., Kiuru, M., Fernandez, M. J., & Aaltonen, L. A. (2003) · Nature Reviews Cancer

Mitochondrial Function and PathologyCancer, Hypoxia, and Metabolism

Cited by 392

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Vanharanta, S., Buchta, M., McWhinney, S. R., Virta, S. K., Peçzkowska, M., Morrison, C. D., Lehtonen, R., Januszewicz, A., Järvinen, H., Juhola, M., et al. (2004) · The American Journal of Human Genetics

Adrenal and Paraganglionic TumorsRenal cell carcinoma treatment

Cited by 389

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

The COGENT Consortium, Houlston, R. S., The CORGI Consortium, The COIN Collaborative Group, The COINB Collaborative Group, Cheadle, J., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic factors in colorectal cancer

Cited by 360

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

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., et al. (2011) · The Journal of Pathology

Cancer, Hypoxia, and MetabolismRenal cell carcinoma treatment

Cited by 281

Genetic and epigenetic characteristics of inflammatory bowel disease-associated colorectal cancer

Rajamäki, K., Taira, A., Katainen, R., Välimäki, N., Kuosmanen, A., Plaketti, R.-M., Seppälä, T. T., Ahtiainen, M., Wirta, E.-V., Vartiainen, E., et al. (2021) · Gastroenterology

Genetic factors in colorectal cancerInflammatory Bowel Disease

Cited by 230

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., et al. (2019) · Nature Communications

Acute Myeloid Leukemia ResearchEpigenetics and DNA Methylation

Cited by 92

Geographical variation in the incidence of colorectal cancer and urinary tract cancer is associated with population exposure to colibactin-producing Escherichia coli

Mäklin, T., Taira, A., Arredondo-Alonso, S., Shao, Y., Stratton, M. R., Lawley, T. D., Aaltonen, L. A., & Corander, J. (2025) · The Lancet Microbe

Escherichia coli research studiesBacterial Cancer Therapy

Cited by 22