Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort

Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

(2015) Thaddeus Judkins et al.   BMC CANCER

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

(2015) Matthew B. Yurgelun et al.   GASTROENTEROLOGY

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population

(2015) Honglin Song et al.   JOURNAL OF CLINICAL ONCOLOGY

Frequency of mutations in individuals with breast cancer referred forBRCA1andBRCA2testing using next-generation sequencing with a 25-gene panel

(2014) Nadine Tung et al.   CANCER

Evaluation of Clinical Criteria for the Identification of Lynch Syndrome among Unselected Patients with Endometrial Cancer

(2014) A. S. Bruegl et al.   Cancer Prevention Research

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

(2014) Sigurdis Haraldsdottir et al.   GASTROENTEROLOGY

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

(2014) Willemina RR Geurts-Giele et al.   JOURNAL OF PATHOLOGY

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

(2013) J.M. Eggington et al.   CLINICAL GENETICS

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

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

(2013) Hans F A Vasen et al.   GUT

High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

(2013) Virginie Bubien et al.   JOURNAL OF MEDICAL GENETICS

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

(2013) R. Pilarski et al.   JNCI-Journal of the National Cancer Institute

BRCA1,TP53, andCHEK2germline mutations in uterine serous carcinoma

(2012) Kathryn P. Pennington et al.   CANCER

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤70years

(2012) Celine H.M. Leenen et al.   GYNECOLOGIC ONCOLOGY

Germline RAD51C mutations confer susceptibility to ovarian cancer

(2012) Chey Loveday et al.   NATURE GENETICS

Lynch Syndrome

(2011) FLOOR J. BACKES et al.   CLINICAL OBSTETRICS AND GYNECOLOGY

Evidence for breast cancer as an integral part of lynch syndrome

(2011) Nicole Buerki et al.   GENES CHROMOSOMES & CANCER

Germline mutations in RAD51D confer susceptibility to ovarian cancer

(2011) Chey Loveday et al.   NATURE GENETICS

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

(2011) T. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome

(2009) Elena Stoffel et al.   GASTROENTEROLOGY

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

(2009) Laura Baglietto et al.   JNCI-Journal of the National Cancer Institute

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Carcinoma of the Lower Uterine Segment: A Newly Described Association With Lynch Syndrome

(2008) Shannon N. Westin et al.   JOURNAL OF CLINICAL ONCOLOGY