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List of works by Lauri Aaltonen

A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma

scientific article

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

scientific article

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

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

scientific article

A missense mutation in the BRCA2 gene in three siblings with ovarian cancer

scientific article

A recurrent mutation in PALB2 in Finnish cancer families.

scientific article

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer

scientific article

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

scientific article

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene

scientific article

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution

scientific article published on 01 January 2008

Allelic analysis of serous ovarian carcinoma reveals two putative tumor suppressor loci at 18q22-q23 distal to SMAD4, SMAD2, and DCC.

scientific article published on July 2001

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

scientific article

Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma

scientific article published on 22 April 2011

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

article

Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients

scientific article published in July 2006

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

scientific article published on 01 July 2009

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

article

Aryl hydrocarbon receptor-interacting protein and acromegaly

scientific article published on 10 December 2007

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

scientific article published on 14 May 2019

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

scientific article

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes

article

Background Mutation Frequency in Microsatellite-Unstable Colorectal Cancer

scientific article published on 01 June 2007

Better survival rates in patients with MLH1-associated hereditary colorectal cancer

scientific article published on 01 March 1996

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors

scientific article

Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease

scientific article

Brush border myosin Ia has tumor suppressor activity in the intestine.

scientific article published on 18 January 2012

CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers

scientific article published in May 2001

CHEK2 1100delC and colorectal cancer

scientific article published on October 2003

CHEK2 I157T associates with familial and sporadic colorectal cancer

scientific article published in July 2006

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

scientific article

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.

scientific article published in August 2005

Cancer risk in mutation carriers of DNA-mismatch-repair genes

scientific article

Candidate driver genes in microsatellite-unstable colorectal cancer

scientific article published on 3 August 2011

Characterization of the 17p amplicon in human sarcomas: Microsatellite marker analysis

article

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

scientific article published on January 2012

Characterization of uterine leiomyomas by whole-genome sequencing.

scientific article published on 5 June 2013

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study

scientific article published on 4 August 2010

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

scientific article published on 29 July 2014

Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families

scientific article published on June 1994

Clues to the pathogenesis of familial colorectal cancer

scientific article published on May 1993

Clusterin expression in normal mucosa and colorectal cancer

scientific article

Colorectal adenoma and cancer divergence. Evidence of multilineage progression

scientific article (publication date: June 1999)

Colorectal pretumor progression before and after loss of DNA mismatch repair

scientific article

Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot

scientific article published on 27 March 2002

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

scientific article

Complexity of 12q13-22 amplicon in liposarcoma: microsatellite repeat analysis

scientific article published on 01 January 1997

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers

scientific article published on October 2001

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

scientific article published on 14 August 2018

Computational identification of candidate loci for recessively inherited mutation using high-throughput SNP arrays

scientific article published on 17 May 2007

Contribution of allelic imbalance to colorectal cancer

scientific article published in Nature Communications

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

scientific article published on 01 May 2000

Conventional renal cancer in a patient with fumarate hydratase mutation

scientific article published on 31 January 2007

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

scientific article published on 05 April 2012

DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers

scientific article published on December 2008

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

scientific article published in December 2001

Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer

scientific article published on 31 December 2020

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

article

Development of Colorectal Tumors in Colonoscopic Surveillance in Lynch Syndrome

article

Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants ⬇️

scientific article published on March 29, 2013

Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid

scientific article published on March 2005

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.

scientific article published on 14 July 2007

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids

scientific article published on 30 November 2005

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

scientific article published on 4 August 2004

Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas

scientific article published on 19 January 2009

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

scientific article

Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer

scientific article published on 20 January 2009

E-cadherin is not frequently mutated in hereditary gastric cancer

scientific article published in January 2001

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis

scientific article published in June 2006

EPHB4 and survival of colorectal cancer patients.

scientific article published on September 2006

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

scientific article

Eleven candidate susceptibility genes for common familial colorectal cancer

scientific article

Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome

Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers

scientific article published on October 1999

Erratum: Corrigendum: A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function

scholarly article published in Nature Genetics

Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers

scientific article published on 21 March 2019

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

scientific article published on 2 April 2013

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

scientific article published on 11 May 2011

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

scientific article published on 9 March 2018

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas

scientific article published on 29 August 2013

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

scientific article published on January 31, 2013

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

scientific article published on September 2001

Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome

scientific article published on 01 October 1997

Founding mutations and Alu-mediated recombination in hereditary colon cancer

scientific article

Frequent loss of SMAD4/DPC4 protein in colorectal cancers

scientific article published on July 2002

Gene expression signatures for colorectal cancer microsatellite status and HNPCC.

scientific article published in June 2005

Gene-expression profiling predicts recurrence in Dukes' C colorectal cancer

scientific article published in September 2005

Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

article

Genetic reconstruction of individual colorectal tumor histories

scientific article

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

scientific article published in April 2003

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

scientific article published on 22 May 2007

Germline and somatic mutation analysis of MLH3 in MSI-positive colorectal cancer

scientific article published on August 2000

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability

scientific article (publication date: December 2003)

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

scientific article

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

scientific article

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

scientific article

HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk

scientific article published on 4 January 2013

High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma

scientific article published on 2 January 2013

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

scientific article published on December 2014

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

scientific article

Human cell transformation by combined lineage conversion and oncogene expression

scientific article published on 23 July 2021

Identification of 33 candidate oncogenes by screening for base-specific mutations.

scientific article

Identification of Lynch syndrome among patients with colorectal cancer

scientific article published on October 2012

Identification of candidate oncogenes in human colorectal cancers with microsatellite instability

scientific article

Increased risk of cancer in patients with fumarate hydratase germline mutation

scientific article published on 09 September 2005

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

scientific article

Inherited susceptibility to uterine leiomyomas and renal cell cancer

scholarly article

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

article

LKB1 somatic mutations in sporadic tumors

scientific article published on March 1999

Large genomic deletions in AIP in pituitary adenoma predisposition.

scientific article published on 15 July 2008

Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome.

scientific article

Little evidence for involvement of MLH3 in colorectal cancer predisposition

scientific article

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

scientific article

Loss of SUFU function in familial multiple meningioma.

scientific article

Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer

scientific article published on 01 June 1999

Low-penetrance susceptibility variants in familial colorectal cancer

scientific article

MED12 exon 2 mutations in histopathological uterine leiomyoma variants

scientific article published on 27 February 2013

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

scientific article published on 6 August 2014

MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas

scientific article

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

article

Mechanisms of inactivation of the receptor tyrosine kinase EPHB2 in colorectal tumors.

scientific article

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

scientific article published on 23 June 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

scientific article

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

scientific article

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

scientific article

Metastasis-Associated Gene Expression Changes Predict Poor Outcomes in Patients with Dukes Stage B and C Colorectal Cancer

scientific article

Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors

scientific article published in November 2012

Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression

scientific article

Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer

scientific article published on December 1999

Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy

scientific article published on 01 October 2000

Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability

scientific article

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

scientific article

Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

scientific article published in March 2006

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

scientific article published in The Journal of the American Medical Association

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

scholarly article

Molecular staging for survival prediction of colorectal cancer patients

scientific article

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

scientific article (publication date: 27 February 2003)

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition

scientific article

Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal.

scientific article published in April 2000

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers

scientific article published in January 2007

Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas

scientific article

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

scientific article

Mutation analysis ofMYH11in acute myeloid leukemia

scientific article published on 01 September 2008

Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation

scientific article published on May 2003

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

scientific article

Mutations in BRIP1 confer high risk of ovarian cancer

scientific article

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

scientific article published in May 1998

Mutations in the circadian gene CLOCK in colorectal cancer

scientific article

Mutations in two short noncoding mononucleotide repeats in most microsatellite-unstable colorectal cancers

scientific article published on June 2005

NOD23020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

scientific article published on 01 October 2004

Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma

scientific article

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

scientific article published on December 2014

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer

scientific article

No SMAD4 hypermethylation in colorectal cancer

scientific article published on October 2000

No Support for Endoscopic Surveillance for Gastric Cancer in Hereditary Non-Polyposis Colorectal Cancer

scientific article published on 01 May 2002

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

scientific article published in June 2010

No evidence for association of NOD2 R702W and G908R with colorectal cancer

scientific article published on July 2007

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

article

No evidence of RET germline mutations in familial pituitary adenoma

scientific article

No evidence of microsatellite instability in bone tumours

scientific article

No fumarate hydratase (FH) mutations in hereditary prostate cancer

scientific article published in March 2003

No germline FH mutations in familial breast cancer patients

Numbers of mutations to different types of colorectal cancer

scientific article

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers

scientific article published on August 2002

Parity associates with chromosomal damage in uterine leiomyomas

scientific article published on 14 September 2021

Phosphoprotein Keratin 23 accumulates in MSS but not MSI colon cancers in vivo and impacts viability and proliferation in vitro.

scientific article

Pituitary adenoma predisposition caused by germline mutations in the AIP gene

scientific article published in May 2006

PolyA deletions in hereditary nonpolyposis colorectal cancer: mutations before a gatekeeper

scientific article published on April 2002

Preferential amplification ofAURKA 91A (Ile31) in familial colorectal cancers

article

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps

scientific article published on 08 February 2013

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

scientific article

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

scientific article

Prognostic Value of Immune Environment Analysis in Small Bowel Adenocarcinomas with Verified Mutational Landscape and Predisposing Conditions

scientific article published on 23 July 2020

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients

scientific article published on September 2003

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)

article published in 2010

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

scientific article published on 10 November 2011

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

scientific article published on 06 September 2019

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

scientific article published on 19 March 2012

SMAD genes in juvenile polyposis

article

SMAD4 as a Prognostic Marker in Colorectal Cancer

scientific article published on 01 April 2005

SMAD4 levels and response to 5-fluorouracil in colorectal cancer

scientific article

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred

article

Screening for microsatellite instability target genes in colorectal cancers.

scientific article

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

scientific article

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy

Serrated carcinomas form a subclass of colorectal cancer with distinct molecular basis

scientific article published on 03 July 2006

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.

scientific article

Somatic microsatellite mutations as molecular tumor clocks

scientific article published in June 1996

Somatic mutation analysis of MYH11 in breast and prostate cancer

scientific article

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

scientific article

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening

scientific article

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

scientific article

Systematic search for rare variants in Finnish early-onset colorectal cancer patients

scientific article published on 31 December 2014

Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members

scientific article published on 31 August 2009

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population

scientific article published on May 2005

The I1307K polymorphism of the APC gene in colorectal cancer

article

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

scientific article published on 28 June 2009

The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas

scientific article published on 22 October 2009

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

scientific article

The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers

scientific article

Tracing cell fates in human colorectal tumors from somatic microsatellite mutations: evidence of adenomas with stem cell architecture

scientific article published on October 1998

Transcription factor PROX1 induces colon cancer progression by promoting the transition from benign to highly dysplastic phenotype

scientific article

Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.

scientific article published on 5 March 2013

Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells

scientific article published on 6 July 2006

Unregulated smooth-muscle myosin in human intestinal neoplasia

scientific article

Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.

scientific article

Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer

scientific article published on 3 September 2011

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

scientific article published on 22 March 2016

Villin expression is frequently lost in poorly differentiated colon cancer.

scientific article

p53 Codon 72 and MDM2 SNP309 Polymorphisms and Age of Colorectal Cancer Onset in Lynch Syndrome

scientific article published on 01 October 2005

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