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Update on Lynch syndrome genomics

Familial cancer, 2016-07, Vol.15 (3), p.385-393

Peltomaeki, Paeivi

2016

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Role of DNA Mismatch Repair Defects in the Pathogenesis of Human Cancer

Journal of clinical oncology, 2003-03, Vol.21 (6), p.1174-1179

Päivi Peltomäki

2003

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Germline Mutation of RPS20 , Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Gastroenterology (New York, N.Y. 1943), 2014-09, Vol.147 (3), p.595-598.e5

2014

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

Journal of clinical oncology, 2009-10, Vol.27 (28), p.4793-4797

2009

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BRAF mutation in sporadic colorectal cancer and Lynch syndrome

Virchows Archiv : an international journal of pathology, 2013-11, Vol.463 (5), p.613-621

2013

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

Genes chromosomes & cancer, 2015-12, Vol.54 (12), p.776-787

2015

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Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

JNCI : Journal of the National Cancer Institute, 2007-02, Vol.99 (4), p.291-299

2007

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

Clinical cancer research, 2005-10, Vol.11 (19), p.6840-6844

2005

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

Molecular medicine (Cambridge, Mass.), 2011-07, Vol.17 (7-8), p.726-735

2011

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Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort

Familial cancer, 2024-11, Vol.23 (4), p.647-652

2024

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

Gastroenterology (New York, N.Y. 1943), 2000-05, Vol.118 (5), p.829-834

2000

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

International journal of cancer, 2013-12, Vol.133 (11), p.2596-2608

2013

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

EBioMedicine, 2019-01, Vol.39, p.280-291

2019

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

Epigenetics, 2014-12, Vol.9 (12), p.1577-1587

2014

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

PloS one, 2013-10, Vol.8 (10), p.e76865-e76865

2013

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Development of Colorectal Tumors in Colonoscopic Surveillance in Lynch Syndrome

Gastroenterology (New York, N.Y. 1943), 2007-10, Vol.133 (4), p.1093-1098

2007

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

The American journal of pathology, 2000-05, Vol.156 (5), p.1773-1779

2000

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Loss of Imprinting of the Insulin-Like Growth Factor II Gene Occurs by Biallelic Methylation in a Core Region of H19-Associated CTCF-binding Sites in Colorectal Cancer

Proceedings of the National Academy of Sciences - PNAS, 2001-01, Vol.98 (2), p.591-596

2001

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BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

Gastroenterology (New York, N.Y. 1943), 2011-07, Vol.141 (1), p.e23-e26

2011

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The genetics of HNPCC: Application to diagnosis and screening

Critical reviews in oncology/hematology, 2006-06, Vol.58 (3), p.208-220

2006

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

Journal of clinical oncology, 2005-07, Vol.23 (21), p.4609-4616

2005

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CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer

Cancer research (Chicago, Ill.), 2001-08, Vol.61 (16), p.6042-6045

2001

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3'-UTR Poly(T/U) Tract Deletions and Altered Expression of EWSR1 Are a Hallmark of Mismatch Repair―Deficient Cancers

Cancer research (Chicago, Ill.), 2014, Vol.74 (1), p.224-234

2014

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

Breast cancer research : BCR, 2012-06, Vol.14 (3), p.R90-R90, Article R90

2012

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

Oncogene, 2005-02, Vol.24 (9), p.1542-1551

2005

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Update on Lynch syndrome genomics

Role of DNA Mismatch Repair Defects in the Pathogenesis of Human Cancer

Germline Mutation of RPS20 , Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

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

BRAF mutation in sporadic colorectal cancer and Lynch syndrome

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

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

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

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

Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort

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

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

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

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

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

Development of Colorectal Tumors in Colonoscopic Surveillance in Lynch Syndrome

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

Loss of Imprinting of the Insulin-Like Growth Factor II Gene Occurs by Biallelic Methylation in a Core Region of H19-Associated CTCF-binding Sites in Colorectal Cancer

BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

The genetics of HNPCC: Application to diagnosis and screening

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

CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer

3'-UTR Poly(T/U) Tract Deletions and Altered Expression of EWSR1 Are a Hallmark of Mismatch Repair―Deficient Cancers

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

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

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