Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

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

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

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

Gene Panel Testing for Inherited Cancer Risk

(2017) Michael J. Hall et al.   Journal of the National Comprehensive Cancer Network

Germline RECQL mutations in high risk Chinese breast cancer patients

(2016) Ava Kwong et al.   BREAST CANCER RESEARCH AND TREATMENT

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors

(2016) Elina Uusitalo et al.   BRITISH JOURNAL OF CANCER

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

(2016) Monkol Lek et al.   NATURE

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

(2016) Christine Stanislaw et al.   Cancer Biology & Medicine

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility

(2015) Mark E. Robson et al.   JOURNAL OF CLINICAL ONCOLOGY

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

(2015) Jun Li et al.   JOURNAL OF MEDICAL GENETICS

Germline RECQL mutations are associated with breast cancer susceptibility

(2015) Cezary Cybulski et al.   NATURE GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

(2014) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study

(2013) Nicoletta Resta et al.   DIGESTIVE AND LIVER DISEASE

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Breast cancer and other neoplasms in women with neurofibromatosis type 1: A retrospective review of cases in the Detroit metropolitan area

(2012) X. Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased risk of breast cancer in women with NF1

(2012) Sara Aileen Madanikia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Risk of benign tumours of nervous system and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

(2012) O O Seminog et al.   BRITISH JOURNAL OF CANCER

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

(2009) Tracy Tucker et al.   AMERICAN JOURNAL OF HUMAN GENETICS