List of works - Päivi Peltomäki

3'-UTR poly(T/U) tract deletions and altered expression of EWSR1 are a hallmark of mismatch repair-deficient cancers.

scientific article published on 24 October 2013

APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers.

scientific article

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

scientific article published on 01 August 2005

Altered Expression of MLH1, MSH2, and MSH6 in Predisposition to Hereditary Nonpolyposis Colorectal Cancer

scientific article published in October 2003

Altered methylation at microRNA-associated CpG islands in hereditary and sporadic carcinomas: a methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)-based approach

scientific article

BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

scientific article

BRAF mutation in sporadic colorectal cancer and Lynch syndrome.

scientific article published on 21 August 2013

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

scientific article published on 21 December 2018

Body Weight, Physical Activity, and Risk of Cancer in Lynch Syndrome

scientific article

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

scientific article

Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- mice

scientific article

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.

scientific article

Converging endometrial and ovarian tumorigenesis in Lynch syndrome: Shared origin of synchronous carcinomas

scientific article published on 30 April 2018

Cutaneous T-cell lymphoma-associated lung cancers show chromosomal aberrations differing from primary lung cancer

scientific article published on 01 February 2008

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas

scientific article published on 22 July 2015

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

scientific article published on 18 December 2018

Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis

scientific article published on 10 December 2015

Development of Colorectal Tumors in Colonoscopic Surveillance in Lynch Syndrome

article

Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors

article

Differential roles of EPS8 in carcinogenesis: loss of protein expression in a subset of colorectal carcinoma and adenoma

scientific article

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 genetic and epigenetic signatures of colorectal cancers according to ethnic origin

scientific article

Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas

scientific article published on 21 June 2013

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

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas

scientific article published on 07 April 2020

Epidemiological, clinical and molecular characterization of Lynch-like syndrome: A population-based study

scientific article published on 07 January 2019

Epigenetic Mechanisms in Lynch Syndrome

Epigenetic analysis of sporadic and Lynch-associated ovarian cancers reveals histology-specific patterns of DNA methylation

scientific article

Epigenetic mechanisms in the pathogenesis of Lynch syndrome.

scientific article published on 17 February 2014

Ethnic variation in the prevalence of AZF deletions in testicular cancer.

scientific article published on October 2004

Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer

scientific article published on 01 July 2005

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

scientific article published in August 2005

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

scientific article

Genome profiles of familial/bilateral and sporadic testicular germ cell tumors

scientific article published on 01 June 2002

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

scientific article

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

scientific article

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in Argentina: Report from a Referral Hospital Register

article

Identification of subgroup-specific miRNA patterns by epigenetic profiling of sporadic and Lynch syndrome-associated colorectal and endometrial carcinoma

scientific article

Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study.

scientific article published on 31 January 2007

LINE-1 hypomethylation in familial and sporadic cancer ⬇️

scientific article published on January 8, 2012

Large genomic rearrangements and germline epimutations in Lynch syndrome

scientific article published on 01 May 2009

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1.

scientific article published in February 2006

Little evidence for involvement of MLH3 in colorectal cancer predisposition

scientific article

Lynch syndrome genes

scientific article

Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer

article

MicroRNA Methylation in Colorectal Cancer

scientific article

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

scientific article published in May 2018

Molecular Analysis of Endometrial Tumorigenesis: Importance of Complex Hyperplasia Regardless of Atypia

article

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

article

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

scientific article published on 09 July 2020

Molecular basis and diagnostics of hereditary colorectal cancers

scientific article published in January 2004

Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance

scientific article published on 27 March 2018

Molecular determinants of colon cancer susceptibility in the East and West.

scientific article

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

scientific article published in April 2000

Mutations and epimutations in the origin of cancer ⬇️

scientific article published on December 13, 2011

Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

scientific article

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

scientific article published on August 2002

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

scientific article published on 22 August 2006

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein

scientific article published on 01 August 2003

Patterns ofPIK3CA alterations in familial colorectal and endometrial carcinoma

scientific article published on 01 August 2007

Potential role of a navigator gene NAV3 in colorectal cancer.

scientific article published on 15 December 2011

Promoter-specific alterations ofAPCare a rare cause for mutation-negative familial adenomatous polyposis

scientific article published on 20 June 2014

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis

scientific article

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

scientific article published in December 2013

Reply

scientific article published on 22 November 2014

Research Highlights

scientific article published on 01 December 2011

Response to Yang et al

scientific article published on 02 May 2019

Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome number

scientific article

Role of DNA mismatch repair defects in the pathogenesis of human cancer

scientific article

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations

scientific article published on 14 November 2017

Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous beta-catenin

scientific article published on March 2008

Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study.

scientific article published in March 2002

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 InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

scientific article published in June 2013

The Role of Chromosomal Instability and Epigenetics in Colorectal Cancers Lacking β-Catenin/TCF Regulated Transcription

scientific article published on 7 March 2016

The genetics of HNPCC: application to diagnosis and screening

scientific article

Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay

scientific article published on April 2003

Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cells.

scientific article published on 26 December 2007

Tumour markers in colorectal cancer: European Group on Tumour Markers (EGTM) guidelines for clinical use.

scientific article published on 18 May 2007

Update on Lynch syndrome genomics

scientific article published on 12 February 2016

Uroepithelial and kidney carcinoma in Lynch syndrome

scientific article published on 01 September 2012

Y chromosome instability in lymphoproliferative disorders

scientific article (publication date: 9 April 2003)

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

scientific article published on 01 October 2005

List of works by Päivi Peltomäki

3'-UTR poly(T/U) tract deletions and altered expression of EWSR1 are a hallmark of mismatch repair-deficient cancers.

APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers.

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

Altered Expression of MLH1, MSH2, and MSH6 in Predisposition to Hereditary Nonpolyposis Colorectal Cancer

Altered methylation at microRNA-associated CpG islands in hereditary and sporadic carcinomas: a methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)-based approach

BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

BRAF mutation in sporadic colorectal cancer and Lynch syndrome.

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

Body Weight, Physical Activity, and Risk of Cancer in Lynch Syndrome

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- mice

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.

Converging endometrial and ovarian tumorigenesis in Lynch syndrome: Shared origin of synchronous carcinomas

Cutaneous T-cell lymphoma-associated lung cancers show chromosomal aberrations differing from primary lung cancer

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis

Development of Colorectal Tumors in Colonoscopic Surveillance in Lynch Syndrome

Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors

Differential roles of EPS8 in carcinogenesis: loss of protein expression in a subset of colorectal carcinoma and adenoma

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

Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin

Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas

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

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas

Epidemiological, clinical and molecular characterization of Lynch-like syndrome: A population-based study

Epigenetic Mechanisms in Lynch Syndrome

Epigenetic analysis of sporadic and Lynch-associated ovarian cancers reveals histology-specific patterns of DNA methylation

Epigenetic mechanisms in the pathogenesis of Lynch syndrome.

Ethnic variation in the prevalence of AZF deletions in testicular cancer.

Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

Genome profiles of familial/bilateral and sporadic testicular germ cell tumors

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in Argentina: Report from a Referral Hospital Register

Identification of subgroup-specific miRNA patterns by epigenetic profiling of sporadic and Lynch syndrome-associated colorectal and endometrial carcinoma

Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study.

LINE-1 hypomethylation in familial and sporadic cancer ⬇️

Large genomic rearrangements and germline epimutations in Lynch syndrome

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1.

Little evidence for involvement of MLH3 in colorectal cancer predisposition

Lynch syndrome genes

Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer

MicroRNA Methylation in Colorectal Cancer

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

Molecular Analysis of Endometrial Tumorigenesis: Importance of Complex Hyperplasia Regardless of Atypia

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

Molecular basis and diagnostics of hereditary colorectal cancers

Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance

Molecular determinants of colon cancer susceptibility in the East and West.

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

Mutations and epimutations in the origin of cancer ⬇️

Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

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

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein

Patterns ofPIK3CA alterations in familial colorectal and endometrial carcinoma

Potential role of a navigator gene NAV3 in colorectal cancer.

Promoter-specific alterations ofAPCare a rare cause for mutation-negative familial adenomatous polyposis

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study

Reply

Research Highlights

Response to Yang et al

Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome number

Role of DNA mismatch repair defects in the pathogenesis of human cancer

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations

Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous beta-catenin

Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study.

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

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

The Role of Chromosomal Instability and Epigenetics in Colorectal Cancers Lacking β-Catenin/TCF Regulated Transcription

The genetics of HNPCC: application to diagnosis and screening

Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay

Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cells.

Tumour markers in colorectal cancer: European Group on Tumour Markers (EGTM) guidelines for clinical use.