R
Rainer Lehtonen
Researcher at University of Helsinki
Publications - 90
Citations - 5994
Rainer Lehtonen is an academic researcher from University of Helsinki. The author has contributed to research in topics: Germline mutation & Population. The author has an hindex of 31, co-authored 87 publications receiving 5420 citations.
Papers
More filters
Journal ArticleDOI
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Ian Tomlinson,Alam Na,Andrew Rowan,Ella Barclay,Emma Jaeger,David P. Kelsell,Irene M. Leigh,Gorman P,H. Lamlum,Shamima Rahman,Roylance Rr,Simon E. Olpin,Steve Bevan,Karen Barker,N Hearle,Richard S. Houlston,Maija Ht Kiuru,Rainer Lehtonen,Auli Karhu,Susa Vilkki,Päivi Laiho,Eklund C,Outi Vierimaa,Kristiina Aittomäki,Marja Hietala,Pertti Sistonen,Anders Paetau,Reijo Salovaara,Riitta Herva,Launonen,Lauri A. Aaltonen +30 more
TL;DR: It is shown that a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma is mapped to chromosome 1q42, and that this gene encodes fumarate hydratase, an enzyme of the tricarboxylic acid cycle.
Journal ArticleDOI
Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene
Outi Vierimaa,Marianthi Georgitsi,Rainer Lehtonen,Pia Vahteristo,Antti Kokko,Anniina Raitila,Karoliina Tuppurainen,Tapani Ebeling,Pasi I. Salmela,Ralf Paschke,Sadi Gundogdu,Ernesto De Menis,Markus J. Mäkinen,Virpi Launonen,Auli Karhu,Lauri A. Aaltonen +15 more
TL;DR: Combining chip-based technologies with genealogy data, germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP) are identified.
Journal ArticleDOI
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
Sari Tuupanen,Mikko P. Turunen,Rainer Lehtonen,Outi Hallikas,Sakari Vanharanta,Sakari Vanharanta,Teemu Kivioja,Mikael Björklund,Gong-Hong Wei,Jian Yan,Iina Niittymäki,Jukka-Pekka Mecklin,Heikki Järvinen,Ari Ristimäki,Ari Ristimäki,Mariachiara Di-Bernardo,Phil East,Luis G. Carvajal-Carmona,Richard S. Houlston,Ian Tomlinson,Kimmo Palin,Kimmo Palin,Esko Ukkonen,Auli Karhu,Jussi Taipale,Lauri A. Aaltonen +25 more
TL;DR: It is reported here that the risk allele G shows copy number increase during CRC development and provides evidence that the common CRC predisposition associated with 8q24 arises from enhanced responsiveness to Wnt signaling.
Journal ArticleDOI
Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma
Sakari Vanharanta,Mary Buchta,Sarah R. McWhinney,Sanna K. Virta,Mariola Pęczkowska,Carl Morrison,Rainer Lehtonen,Andrzej Januszewicz,Heikki Järvinen,Matti Juhola,Jukka-Pekka Mecklin,Eero Pukkala,Riitta Herva,Maija Ht Kiuru,Nina N. Nupponen,Lauri A. Aaltonen,Hartmut P. H. Neumann,Charis Eng +17 more
TL;DR: It is suggested that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance.
Journal ArticleDOI
Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes
Xiao-Ping Zhou,Kelly Woodford-Richens,Rainer Lehtonen,Keisuke Kurose,Micheala A. Aldred,Heather Hampel,Virpi Launonen,Sanno Virta,Robert Pilarski,Reijo Salovaara,Walter F. Bodmer,Beth A. Conrad,Malcolm G. Dunlop,Shirley Hodgson,Takeo Iwama,Heikki Järvinen,Ilmo Kellokumpu,Jin Cheon Kim,Barbara A. Leggett,David Markie,Jukka-Pekka Mecklin,K Neale,Robin K. S. Phillips,J. Piris,Paul Rozen,Richard S. Houlston,Lauri A. Aaltonen,Ian Tomlinson,Charis Eng,Charis Eng +29 more
TL;DR: Germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of casesof CS/BRRS with specific colonic phenotype, which is a clinical diagnosis by exclusion.