Reijo Salovaara

Colorectal Adenoma and Cancer Divergence Evidence of Multilineage Progression (2008)

Jen-lan Tsao, Simon Tavaré, Reijo Salovaara, Jeremy R. Jass, Lauri A. Aaltonen, Darryl Shibata

Colorectal cancer progression involves changes in phenotype and genotype. Although usually illustrated as a linear process, more complex underlying pathways have not been excluded. The object of this...

Genetic reconstruction of individual colorectal tumor histories

Tsao, Jen-Lan, Yatabe, Yasushi, Salovaara, Reijo, Järvinen, Heikki J., Mecklin, Jukka-Pekka, Aaltonen, Lauri A., ...

It is difficult to observe human tumor progression as precursor lesions are systematically removed. Alternatives to direct observations, commonly used to reveal the hidden past of species and...

Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers

Kuismanen, Shannon A., Holmberg, Mari T., Salovaara, Reijo, Schweizer, Pascal, Aaltonen, Lauri A., De La Chapelle, Albert, ...

Aberrant DNA methylation is a common phenomenon in human cancer, but its patterns, causes, and consequences are poorly defined. Promoter methylation of the DNA mismatch repair gene MutL homologue...

Induction of cyclooxygenase-2 in a mouse model of Peutz–Jeghers polyposis

Rossi, Derrick J., Ylikorkala, Antti, Korsisaari, Nina, Salovaara, Reijo, Luukko, Keijo, Launonen, Virpi, ...

Inactivating germ-line mutations of LKB1 lead to Peutz–Jeghers syndrome (PJS). We have generated mice heterozygous for a targeted inactivating allele of Lkb1 and found that they develop severe...

Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, ...

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were...

Genetic reconstruction of individual colorectal tumor histories

Tsao, Jen-Lan, Yatabe, Yasushi, Salovaara, Reijo, Järvinen, Heikki J., Mecklin, Jukka-Pekka, Aaltonen, Lauri A., ...

It is difficult to observe human tumor progression as precursor lesions are systematically removed. Alternatives to direct observations, commonly used to reveal the hidden past of species and...

Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers

Kuismanen, Shannon A., Holmberg, Mari T., Salovaara, Reijo, Schweizer, Pascal, Aaltonen, Lauri A., De La Chapelle, Albert, ...

Aberrant DNA methylation is a common phenomenon in human cancer, but its patterns, causes, and consequences are poorly defined. Promoter methylation of the DNA mismatch repair gene MutL homologue...

Induction of cyclooxygenase-2 in a mouse model of Peutz–Jeghers polyposis

Rossi, Derrick J., Ylikorkala, Antti, Korsisaari, Nina, Salovaara, Reijo, Luukko, Keijo, Launonen, Virpi, ...

Inactivating germ-line mutations of LKB1 lead to Peutz–Jeghers syndrome (PJS). We have generated mice heterozygous for a targeted inactivating allele of Lkb1 and found that they develop severe...

Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, ...

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were...

Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors

Lehtonen, Rainer, Kiuru, Maija, Vanharanta, Sakari, Sjöberg, Jari, Aaltonen, Leena-Maija, Aittomäki, Kristiina, ...

Germline mutations in the fumarate hydratase (FH) gene at 1q43 predispose to dominantly inherited cutaneous and uterine leiomyomas, uterine leiomyosarcoma, and papillary renal cell cancer (HLRCC...

Colorectal Pretumor Progression Before and After Loss of DNA Mismatch Repair

Calabrese, Peter, Tsao, Jen-Lan, Yatabe, Yasushi, Salovaara, Reijo, Mecklin, Jukka-Pekka, Järvinen, Heikki J., ...

A pretumor progression model predicts many oncogenic cancer mutations may first accumulate in normal appearing colon. Although direct observations of early pretumor mutations are impractical, it may...

Genetic and Epigenetic Modification of MLH1 Accounts for a Major Share of Microsatellite-Unstable Colorectal Cancers

Kuismanen, Shannon A., Holmberg, Mari T., Salovaara, Reijo, De La Chapelle, Albert, Peltomäki, Päivi

Microsatellite instability (MSI) is a hallmark of hereditary nonpolyposis colorectal cancer, and in these patients, results from inherited defects in DNA mismatch repair genes, mostly MSH2 and MLH1....

Tracing Cell Fates in Human Colorectal Tumors from Somatic Microsatellite Mutations : Evidence of Adenomas with Stem Cell Architecture

Tsao, Jen-Lan, Zhang, Jingsong, Salovaara, Reijo, Li, Zhi-Hua, Järvinen, Heikki J., Mecklin, Jukka-Pekka, ...

Occult aspects of tumor proliferation are likely recorded genetically as their microsatellite (MS) loci become polymorphic. However, MS mutations generated by division may also be eliminated with...

Microsatellite Instability in Adenomas as a Marker for Hereditary Nonpolyposis Colorectal Cancer

Loukola, Anu, Salovaara, Reijo, Kristo, Paula, Moisio, Anu-Liisa, Kääriäinen, Helena, Ahtola, Heikki, ...

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common of the well-defined colorectal cancer syndromes, accounting for at least 2% of the total colorectal cancer burden and carrying a...

LKB1 Somatic Mutations in Sporadic Tumors

Avizienyte, Egle, Loukola, Anu, Roth, Stina, Hemminki, Akseli, Tarkkanen, Maija, Salovaara, Reijo, ...

Germline mutations of LKB1/Peutz-Jeghers syndrome gene predispose carriers to hamartomatous polyposis of the gastrointestinal tract as well as to cancer of different organ systems. Although...

Allelic Analysis of Serous Ovarian Carcinoma Reveals Two Putative Tumor Suppressor Loci at 18q22-q23 Distal to SMAD4, SMAD2, and DCC

Lassus, Heini, Salovaara, Reijo, Aaltonen, Lauri A., Butzow, Ralf

The distal half of chromosome arm 18q is frequently lost in ovarian carcinoma. To define the putative tumor suppressor locus/loci more precisely we performed allelic analysis with 27 polymorphic...

Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology

Kiuru, Maija, Launonen, Virpi, Hietala, Marja, Aittomäki, Kristiina, Vierimaa, Outi, Salovaara, Reijo, ...

Little has been known about the molecular background of familial multiple cutaneous leiomyomatosis (MCL). We report here a clinical, histopathological, and molecular study of a multiple cutaneous...

Comprehensive Analysis of SMAD4 Mutations and Protein Expression in Juvenile Polyposis : Evidence for a Distinct Genetic Pathway and Polyp Morphology in SMAD4 Mutation Carriers

Woodford-Richens, Kelly L., Rowan, Andrew J., Poulsom, Richard, Bevan, Stephen, Salovaara, Reijo, Aaltonen, Lauri A., ...

Juvenile polyposis syndrome (JPS; OMIM 174900) is a rare disorder which is characterized by the presence of hamartomatous polyps throughout the gastrointestinal tract and an increased risk of...

PTEN Mutational Spectra, Expression Levels, and Subcellular Localization in Microsatellite Stable and Unstable Colorectal Cancers

Zhou, Xiao-Ping, Loukola, Anu, Salovaara, Reijo, Nystrom-Lahti, Minna, Peltomäki, Päivi, De La Chapelle, Albert, ...

PTEN on 10q23.3 encodes a dual-specificity phosphatase that negatively regulates the phosphoinositol-3-kinase/Akt pathway and mediates cell-cycle arrest and apoptosis. Germline PTEN mutations cause...

Endometrial and Colorectal Tumors from Patients with Hereditary Nonpolyposis Colon Cancer Display Different Patterns of Microsatellite Instability

Kuismanen, Shannon A., Moisio, Anu-Liisa, Schweizer, Pascal, Truninger, Kaspar, Salovaara, Reijo, Arola, Johanna, ...

The colorectum and uterine endometrium are the two most commonly affected organs in hereditary nonpolyposis colon cancer (HNPCC), but the genetic basis of organ selection is poorly understood. As...

PolyA Deletions in Hereditary Nonpolyposis Colorectal Cancer : Mutations Before a Gatekeeper

Kim, Kyoung-Mee, Salovaara, Reijo, Mecklin, Jukka-Pekka, Järvinen, Heikki J., Aaltonen, Lauri A., Shibata, Darryl

Microsatellite instability (MSI) secondary to loss of DNA mismatch repair (MMR) is present in adenomas and colorectal carcinomas from individuals with hereditary nonpolyposis colorectal cancer...

Colorectal Adenoma and Cancer Divergence : Evidence of Multilineage Progression

Tsao, Jen-Lan, Tavaré, Simon, Salovaara, Reijo, Jass, Jeremy R., Aaltonen, Lauri A., Shibata, Darryl

Colorectal cancer progression involves changes in phenotype and genotype. Although usually illustrated as a linear process, more complex underlying pathways have not been excluded. The object of this...