A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Inherited DNA-Repair Defects in Colorectal Cancer

(2018) Saud H. AlDubayan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark

(2018) Shan Yang et al.   ANNALS OF SURGICAL ONCOLOGY

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

(2018) Maegan E Roberts et al.   GENETICS IN MEDICINE

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

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

(2018) Huma Q Rana et al.   JNCI-Journal of the National Cancer Institute

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

(2018) Huma Q Rana et al.   JNCI-Journal of the National Cancer Institute

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

(2018) Peter D. Beitsch et al.   JOURNAL OF CLINICAL ONCOLOGY

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

(2017) Jenna Lilyquist et al.   GYNECOLOGIC ONCOLOGY

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

(2017) Carin R. Espenschied et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories

(2017) Eric T. Rosenthal et al.   Cancer Genetics

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

(2017) Fergus J. Couch et al.   JAMA Oncology

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Inherited Mutations in Women With Ovarian Carcinoma

(2016) Barbara M. Norquist et al.   JAMA Oncology

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

(2015) Lisa R. Susswein et al.   GENETICS IN MEDICINE

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

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

(2014) Leora Witkowski et al.   NATURE GENETICS

Breast-Cancer Risk in Families with Mutations in PALB2

(2014) Antonis C. Antoniou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

(2013) C M Phelan et al.   BRITISH JOURNAL OF CANCER

Clinical significance of large rearrangements inBRCA1andBRCA2

(2012) Thaddeus Judkins et al.   CANCER

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

ATM Mutations in Patients with Hereditary Pancreatic Cancer

(2011) Nicholas J. Roberts et al.   Cancer Discovery

Confidence intervals that match Fisher's exact or Blaker's exact tests

(2009) Michael P. Fay   BIOSTATISTICS

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

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

Large genomic rearrangements and germline epimutations in Lynch syndrome

(2008) Annette Gylling et al.   INTERNATIONAL JOURNAL OF CANCER