4.7 Article

New insights on familial colorectal cancer type X syndrome

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer

Paula S. Felicio et al.

Summary: The study utilized whole-exome sequencing to identify potential new breast and/or ovarian cancer predisposition genes in high-risk individuals. Pathogenic variants were found in known cancer genes, DNA repair genes, and other cancer-related genes. This is the largest Brazilian study on this topic and has provided new insights into genetic risk factors for hereditary breast and ovarian cancer.

HUMAN MUTATION (2021)

Article Oncology

Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome

Andre Escremim de Paula et al.

Summary: This study aimed to characterize Lynch syndrome (LS) in Brazil by determining the spectrum of pathogenic variants in Mismatch Repair (MMR) genes. Through molecular analysis of MMR deficient tumors in LS patients, important pathogenic variants were identified, and a potential pitfall in diagnosing MLH1 mutation carriers using MLH1 hypermethylation was highlighted.

CANCER GENETICS (2021)

Article Genetics & Heredity

CHG: A Systematically Integrated Database of Cancer Hallmark Genes

Denan Zhang et al.

FRONTIERS IN GENETICS (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Review Pharmacology & Pharmacy

TREX1 As a Potential Therapeutic Target for Autoimmune and Inflammatory Diseases

Sha-Sha Tao et al.

CURRENT PHARMACEUTICAL DESIGN (2019)

Review Surgery

Lynch Syndrome: Current management In 2019

B. Menahem et al.

JOURNAL OF VISCERAL SURGERY (2019)

Article Biochemical Research Methods

VarSome: the human genomic variant search engine

Christos Kopanos et al.

BIOINFORMATICS (2019)

Article Biochemistry & Molecular Biology

UniProt: a worldwide hub of protein knowledge

Alex Bateman et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

COSMIC: the Catalogue Of Somatic Mutations In Cancer

John G. Tate et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Genetics & Heredity

Inherited DNA-Repair Defects in Colorectal Cancer

Saud H. AlDubayan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Biochemistry & Molecular Biology

SETD6 dominant negative mutation in familial colorectal cancer type X

Lorena Martin-Morales et al.

HUMAN MOLECULAR GENETICS (2017)

Article Genetics & Heredity

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Michel Satya Naslavsky et al.

HUMAN MUTATION (2017)

Review Oncology

Variant Review with the Integrative Genomics Viewer

James T. Robinson et al.

CANCER RESEARCH (2017)

Article Genetics & Heredity

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Genetics & Heredity

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

A spectral approach integrating functional genomic annotations for coding and noncoding variants

Iuliana Ionita-Laza et al.

NATURE GENETICS (2016)

Article Multidisciplinary Sciences

Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability

Christophe Lachaud et al.

SCIENCE (2016)

Article Gastroenterology & Hepatology

Association between polymorphisms of APE1 and OGG1 and risk of colorectal cancer in Taiwan

Ching-Yu Lai et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2016)

Article Genetics & Heredity

Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

Bianca Russell et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Gastroenterology & Hepatology

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

Nuria Segui et al.

GASTROENTEROLOGY (2015)

Article Biochemical Research Methods

DISEASES: Text mining and data integration of disease-gene associations

Sune Pletscher-Frankild et al.

METHODS (2015)

Article Genetics & Heredity

BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X

P. Garre et al.

CLINICAL GENETICS (2015)

Article Gastroenterology & Hepatology

Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X

E. Sanchez-Tome et al.

JOURNAL OF GASTROENTEROLOGY (2015)

Article Pathology

Familial colorectal cancer type X: genetic profiles and phenotypic features

Mev Dominguez-Valentin et al.

MODERN PATHOLOGY (2015)

Article Biochemistry & Molecular Biology

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

Jacqueline A. L. MacArthur et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Multidisciplinary Sciences

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X

Eduard Schulz et al.

NATURE COMMUNICATIONS (2014)

Article Multidisciplinary Sciences

Assessment of SLX4 Mutations in Hereditary Breast Cancers

Sohela Shah et al.

PLOS ONE (2013)

Article Biochemistry & Molecular Biology

Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal

Jianjiong Gao et al.

SCIENCE SIGNALING (2013)

Article Genetics & Heredity

Germ line Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome

Akio Tanaka et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Gastroenterology & Hepatology

The functional Ser326Cys polymorphism in hOGG1 is associated with gastric cancer risk: evidence from 1180 cases and 2444 controls

Min Ni et al.

EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2012)

Letter Gastroenterology & Hepatology

BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency

Taina T. Nieminen et al.

GASTROENTEROLOGY (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Oncology

CHEK2 mutations and HNPCC-related colorectal cancer

Janina Suchy et al.

INTERNATIONAL JOURNAL OF CANCER (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Multidisciplinary Sciences

PARK2 deletions occur frequently in sporadic colorectal cancer and accelerate adenoma development in Apc mutant mice

George Poulogiannis et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Hematology

Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia

Veronique Gelsi-Boyer et al.

BRITISH JOURNAL OF HAEMATOLOGY (2009)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Genetics & Heredity

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

H Meijers-Heijboer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)