Novel Implications in Molecular Diagnosis of Lynch Syndrome

Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families

(2016) Taru A. Muranen et al.   BREAST CANCER RESEARCH AND TREATMENT

Prognostic value of BRAF V600E mutation and microsatellite instability in Japanese patients with sporadic colorectal cancer

(2016) Yu Nakaji et al.   JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY

Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors

(2016) Francesca Duraturo et al.   JOURNAL OF NEURO-ONCOLOGY

Risk prediction for early-onset gastric carcinoma: a case-control study of polygenic gastric cancer in Han Chinese with hereditary background

(2016) Jiajia Yuan et al.   Oncotarget

Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families

(2016) Bente A. Talseth-Palmer et al.   Cancer Medicine

Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability

(2015) FRANCESCA DURATURO et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Genetics, diagnosis and management of colorectal cancer (Review)

(2015) MARINA DE ROSA et al.   ONCOLOGY REPORTS

Colorectal cancer: A review of the genome-wide association studies in the kingdom of Saudi Arabia

(2015) YazeedA Al-Sheikh et al.   Saudi Journal of Gastroenterology

Genetics, Biomarkers, Hereditary Cancer Syndrome Diagnosis, Heterogeneity and Treatment: A Review

(2014) Henry T. Lynch et al.   CURRENT TREATMENT OPTIONS IN ONCOLOGY

Hereditary and Common Familial Colorectal Cancer: Evidence for Colorectal Screening

(2014) N. Jewel Samadder et al.   DIGESTIVE DISEASES AND SCIENCES

Differentiating Lynch-Like From Lynch Syndrome

(2014) John M. Carethers   GASTROENTEROLOGY

Lynch-like syndrome: Characterization and comparison with EPCAM deletion carriers

(2014) So Young Kang et al.   INTERNATIONAL JOURNAL OF CANCER

Genetic predisposition to colorectal cancer: Where we stand and future perspectives

(2014) Laura Valle   WORLD JOURNAL OF GASTROENTEROLOGY

Molecular and prognostic heterogeneity of microsatellite-unstable colorectal cancer

(2014) Jung Ho Kim   WORLD JOURNAL OF GASTROENTEROLOGY

Role of microsatellite instability-low as a diagnostic biomarker of Lynch syndrome in colorectal cancer

(2014) Eduardo Vilar et al.   Cancer Genetics

MicroRNA dysregulation as a prognostic biomarker in colorectal cancer

(2014) Simon Ng et al.   Cancer Management and Research

Overexpression of microRNAs-155 and 21 targeting mismatch repair proteins in inflammatory bowel diseases

(2013) M. Svrcek et al.   CARCINOGENESIS

The Histone Mark H3K36me3 Regulates Human DNA Mismatch Repair through Its Interaction with MutSα

(2013) Feng Li et al.   CELL

Lynch syndrome-associated neoplasms: a discussion on histopathology and immunohistochemistry

(2013) Jinru Shia et al.   Familial Cancer

The Mystery of Mismatch Repair Deficiency: Lynch or Lynch-like?

(2013) C. Richard Boland   GASTROENTEROLOGY

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

(2013) Arjen R. Mensenkamp et al.   GASTROENTEROLOGY

Microsatellite Instability and BRAF Mutation Testing in Colorectal Cancer Prognostication

(2013) Paul Lochhead et al.   JNCI-Journal of the National Cancer Institute

Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis

(2013) Martina Galatola   WORLD JOURNAL OF GASTROENTEROLOGY

Activation-induced deaminase contributes to the antibody-independent role of B cells in the development of autoimmunity

(2012) Chuancang Jiang et al.   AUTOIMMUNITY

Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"

(2012) Martina Galatola et al.   BMC Medical Genetics

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

(2012) Guixiang Ji et al.   BMC Medicine

MicroRNAs and DNA damage response

(2012) Yemin Wang et al.   CELL CYCLE

Modulation of microRNA processing by mismatch repair protein MutLα

(2012) Guogen Mao et al.   CELL RESEARCH

Molecular Pathways: Microsatellite Instability in Colorectal Cancer: Prognostic, Predictive, and Therapeutic Implications

(2012) F. A. Sinicrope et al.   CLINICAL CANCER RESEARCH

Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion

(2012) Francesca Duraturo et al.   Biomed Research International

Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer

(2011) T. R. Smith et al.   CARCINOGENESIS

Implication of Adenomatous Polyposis Coli and MUTYH Mutations in Familial Colorectal Polyposis

(2011) Marina De Rosa et al.   DISEASES OF THE COLON & RECTUM

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

(2011) Johanna C. Herkert et al.   EUROPEAN JOURNAL OF CANCER

Current status of genome-wide association studies in cancer

(2011) Charles C. Chung et al.   HUMAN GENETICS

Candidate driver genes in microsatellite-unstable colorectal cancer

(2011) Pia Alhopuro et al.   INTERNATIONAL JOURNAL OF CANCER

MicroRNAs in Mutagenesis, Genomic Instability, and DNA Repair

(2011) Dan-Avi Landau et al.   SEMINARS IN ONCOLOGY

Microsatellite instability in colorectal cancer: from molecular oncogenic mechanisms to clinical implications

(2011) Aziz Zaanan et al.   CELLULAR ONCOLOGY

Familial gastric cancer: update for practice management

(2010) Giovanni Corso et al.   Familial Cancer

Microsatellite Alterations at Selected Tetranucleotide Repeats Are Associated With Morphologies of Colorectal Neoplasias

(2010) Sun–Young Lee et al.   GASTROENTEROLOGY

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation

(2010) Anna Seriola et al.   HUMAN MOLECULAR GENETICS

Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects

(2010) Francesca Duraturo et al.   INTERNATIONAL JOURNAL OF CANCER

Defective Mismatch Repair As a Predictive Marker for Lack of Efficacy of Fluorouracil-Based Adjuvant Therapy in Colon Cancer

(2010) Daniel J. Sargent et al.   JOURNAL OF CLINICAL ONCOLOGY

MSH2/MSH6 Complex Promotes Error-Free Repair of AID-Induced dU:G Mispairs as well as Error-Prone Hypermutation of A:T Sites

(2010) Sergio Roa et al.   PLoS One

MicroRNA-21 induces resistance to 5-fluorouracil by down-regulating human DNA MutS homolog 2 (hMSH2)

(2010) N. Valeri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS

A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory

(2009) Margot G.F. Van Lier et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Compound Heterozygosity for MSH6 Mutations in a Pediatric Lymphoma Patient

(2009) Antoinette Peters et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Management of extracolonic tumours in patients with Lynch syndrome

(2009) Jan J Koornstra et al.   LANCET ONCOLOGY

Genome-Wide Association Studies and Colorectal Cancer

(2009) Loïc Le Marchand   Surgical Oncology Clinics of North America

MSH2 ATPase Domain Mutation Affects CTG•CAG Repeat Instability in Transgenic Mice

(2009) Stéphanie Tomé et al.   PLoS Genetics

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

DNA mismatch repair: Molecular mechanism, cancer, and ageing

(2008) Peggy Hsieh et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

(2008) Ella Dragileva et al.   NEUROBIOLOGY OF DISEASE