Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2021) Catherine Rehder et al.   GENETICS IN MEDICINE

Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics

(2020) Monika Morak et al.   Familial Cancer

Designing and Implementing NGS Tests for Inherited Disorders – a Practical Framework with Step-by-Step Guidance for Clinical Laboratories

(2019) Avni Santani et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome

(2019) Jérôme Solassol et al.   HUMAN MUTATION

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2019) Lora J. H. Bean et al.   GENETICS IN MEDICINE

Germline Genetic Features of Young Individuals With Colorectal Cancer

(2018) Elena M. Stoffel et al.   GASTROENTEROLOGY

Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency

(2018) Rachel Pearlman et al.   MODERN PATHOLOGY

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer

(2018) Heather Hampel et al.   JAMA Oncology

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

(2018) Bryce A. Seifert et al.   GENETICS IN MEDICINE

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

(2017) Matthew B. Yurgelun et al.   JOURNAL OF CLINICAL ONCOLOGY

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

(2017) Rachel Pearlman et al.   JAMA Oncology

A cryptic paracentric inversion ofMSH2exons 2–6 causes Lynch syndrome

(2015) Qing Liu et al.   CARCINOGENESIS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations

(2014) Sigurdis Haraldsdottir et al.   GASTROENTEROLOGY

Cancer risk in Lynch Syndrome

(2013) Emma Barrow et al.   Familial Cancer

Inversion of exons 1–7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population

(2013) Jennifer Rhees et al.   Familial Cancer

Identification of Cancer Patients with Lynch Syndrome: Clinically Significant Discordances and Problems in Tissue-Based Mismatch Repair Testing

(2011) A. N. Bartley et al.   Cancer Prevention Research

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

(2011) Lucía Pérez-Carbonell et al.   GUT

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

(2011) Valérie Bonadona   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Lynch Syndrome and MYH-Associated Polyposis

(2011) McKinsey Goodenberger et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Determining the frequency of de novo germline mutations in DNA mismatch repair genes

(2011) A. K. Win et al.   JOURNAL OF MEDICAL GENETICS

Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases

(2011) Kandelaria Rumilla et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer

(2010) M. D. Giraldez et al.   CLINICAL CANCER RESEARCH

Genetic Testing for Hereditary Colorectal Cancer: Challenges in Identifying, Counseling, and Managing High-Risk Patients

(2010) Elena M. Stoffel et al.   GASTROENTEROLOGY

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

EPCAM deletions, Lynch syndrome, and cancer risk

(2010) Henry T Lynch et al.   LANCET ONCOLOGY

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome

(2009) George Poulogiannis et al.   HISTOPATHOLOGY

Molecular Basis of Colorectal Cancer

(2009) Sanford D. Markowitz et al.   NEW ENGLAND JOURNAL OF MEDICINE

The hMSH2 and hMLH1 Genes in Hereditary Nonpolyposis Colorectal Cancer

(2009) Patrick M. Lynch   Surgical Oncology Clinics of North America

MUTYH Associated Polyposis (MAP)

(2008) M. Poulsen et al.   CURRENT GENOMICS

Distinct CpG island methylation profiles andBRAFmutation status in serrated and adenomatous colorectal polyps

(2008) Yong Ho Kim et al.   INTERNATIONAL JOURNAL OF CANCER