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

Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel

(2017) Bradford Coffee et al.   Cancer Genetics

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging

(2017) Mandy L. Ballinger et al.   JAMA Oncology

Genetic/Familial High-Risk Assessment: Breast and Ovarian

(2017) Mary B. Daly et al.   Journal of the National Comprehensive Cancer Network

Risks of first and subsequent cancers amongTP53mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort

(2016) Phuong L. Mai et al.   CANCER

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care

(2016) Ella R. Thompson et al.   JOURNAL OF CLINICAL ONCOLOGY

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

(2016) Anita Villani et al.   LANCET ONCOLOGY

Monogenic and polygenic determinants of sarcoma risk: an international genetic study

(2016) Mandy L Ballinger et al.   LANCET ONCOLOGY

Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer

(2015) Nimmi S. Kapoor et al.   ANNALS OF SURGICAL ONCOLOGY

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

(2015) Matthew B. Yurgelun et al.   GASTROENTEROLOGY

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

Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2

(2015) Lindsey E. Minion et al.   GYNECOLOGIC ONCOLOGY

Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome

(2015) Kim E. Nichols et al.   JOURNAL OF CLINICAL ONCOLOGY

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

(2015) Gaëlle Bougeard et al.   JOURNAL OF CLINICAL ONCOLOGY

ClinGen — The Clinical Genome Resource

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

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

(2015) Andrea Desmond et al.   JAMA Oncology

GermlineTP53Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry

(2015) Matthew B. Yurgelun et al.   JAMA 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

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

(2014) Holly LaDuca et al.   GENETICS IN MEDICINE

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

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

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Anaplastic rhabdomyosarcoma inTP53germline mutation carriers

(2013) Simone Hettmer et al.   CANCER

Subgroup-Specific Prognostic Implications ofTP53Mutation in Medulloblastoma

(2013) Nataliya Zhukova et al.   JOURNAL OF CLINICAL ONCOLOGY

The genomic landscape of hypodiploid acute lymphoblastic leukemia

(2013) Linda Holmfeldt et al.   NATURE GENETICS

High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort

(2013) Gillian Mitchell et al.   PLoS One

Routine TP53 testing for breast cancer under age 30: ready for prime time?

(2012) Jeanna M. McCuaig et al.   Familial Cancer

The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis

(2012) Bernard Leroy et al.   NUCLEIC ACIDS RESEARCH

Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer

(2011) Ze Ming Xie et al.   CANCER

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study

(2011) Anita Villani et al.   LANCET ONCOLOGY

Population-Based Estimate of the Contribution ofTP53Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study: Table 1.

(2010) Judy Mouchawar et al.   CANCER RESEARCH

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

(2010) M. W. G. Ruijs et al.   JOURNAL OF MEDICAL GENETICS

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

(2009) Julie Tinat et al.   JOURNAL OF CLINICAL ONCOLOGY

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families Withp53Germline Mutations

(2009) Kelly D. Gonzalez et al.   JOURNAL OF CLINICAL ONCOLOGY

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

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