Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance

Cancer statistics, 2020

(2020) Rebecca L. Siegel et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Real-time Targeted Genome Profile Analysis of Pancreatic Ductal Adenocarcinomas Identifies Genetic Alterations that Might be Targeted with Existing Drugs or Used as Biomarkers

(2019) Aatur D. Singhi et al.   GASTROENTEROLOGY

Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome

(2019) Delphine Bouvet et al.   GASTROENTEROLOGY

Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium

(2019) Michael Goggins et al.   GUT

Systematic Functional Annotation of Somatic Mutations in Cancer

(2018) Patrick Kwok-Shing Ng et al.   CANCER CELL

Risk of Neoplastic Progression in Individuals at High Risk for Pancreatic Cancer Undergoing Long-term Surveillance

(2018) Marcia Irene Canto et al.   GASTROENTEROLOGY

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

(2018) Chunling Hu et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms

(2018) Maeve A Lowery et al.   JNCI-Journal of the National Cancer Institute

Mutations in the pancreatic secretory enzymesCPA1andCPB1are associated with pancreatic cancer

(2018) Koji Tamura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms

(2018) Maeve A Lowery et al.   JNCI-Journal of the National Cancer Institute

Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinoma

(2018) Randall Brand et al.   CANCER

CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations

(2018) Robert R. McWilliams et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion

(2018) Elena M. Stoffel et al.   JOURNAL OF CLINICAL ONCOLOGY

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma

(2017) Koji Shindo et al.   JOURNAL OF CLINICAL ONCOLOGY

An Argonaute phosphorylation cycle promotes microRNA-mediated silencing

(2017) Ryan J. Golden et al.   NATURE

Effects of two different high-fidelity DNA polymerases on genetic analysis of the cyanobacterial community structure in a subtropical deep freshwater reservoir

(2016) Zhuo Zhen et al.   ARCHIVES OF MICROBIOLOGY

Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers

(2016) Hans Vasen et al.   JOURNAL OF CLINICAL ONCOLOGY

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

Olaparib Monotherapy in Patients With Advanced Cancer and a GermlineBRCA1/2Mutation

(2015) Bella Kaufman et al.   JOURNAL OF CLINICAL ONCOLOGY

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity

(2015) Matthew T Chang et al.   NATURE BIOTECHNOLOGY

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

(2015) Dung T. Le et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

(2015) N. J. Roberts et al.   Cancer Discovery

BRCA1, BRCA2, PALB2 and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

(2014) David B. Zhen et al.   GENETICS IN MEDICINE

International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer

(2012) Marcia Irene Canto et al.   GUT

Familial Melanoma–Associated Mutations in p16 Uncouple its Tumor-Suppressor Functions

(2012) Noah C. Jenkins et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Classifying variants of CDKN2A using computational and laboratory studies

(2011) Peter J. Miller et al.   HUMAN MUTATION

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling

(2010) Robert R McWilliams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional, structural, and genetic evaluation of 20CDKN2Agerm line mutations identified in melanoma-prone families or patients

(2009) Caroline Kannengiesser et al.   HUMAN MUTATION