Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing

Reevaluation of RINT1 as a breast cancer predisposition gene

(2016) Na Li et al.   BREAST CANCER RESEARCH AND TREATMENT

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline

(2016) N.J.H. van Os et al.   CLINICAL GENETICS

Occult and subsequent cancer incidence following risk-reducing surgery in BRCA mutation carriers

(2016) Mae Zakhour et al.   GYNECOLOGIC ONCOLOGY

Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

(2016) Marjanka K. Schmidt et al.   JOURNAL OF CLINICAL ONCOLOGY

Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study

(2016) Charlotte Näslund-Koch et al.   JOURNAL OF CLINICAL ONCOLOGY

No evidence that protein truncating variants inBRIP1are associated with breast cancer risk: implications for gene panel testing

(2016) Douglas F Easton et al.   JOURNAL OF MEDICAL GENETICS

Multigene testing of moderate-risk genes: be mindful of the missense

(2016) E L Young et al.   JOURNAL OF MEDICAL GENETICS

PALB2,CHEK2andATMrare variants and cancer risk: data from COGS

(2016) Melissa C Southey et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Kari L Ring et al.   MODERN PATHOLOGY

Five endometrial cancer risk loci identified through genome-wide association analysis

(2016) Timothy H T Cheng et al.   NATURE GENETICS

Counselling framework for moderate-penetrance cancer-susceptibility mutations

(2016) Nadine Tung et al.   Nature Reviews Clinical Oncology

Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations

(2016) Catherine A. Shu et al.   JAMA Oncology

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

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

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

(2015) Sapna Syngal et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

(2015) Lamis Yehia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic Performance of Whole-Body MRI as a Tool for Cancer Screening in Children With Genetic Cancer-Predisposing Conditions

(2015) Sudha A. Anupindi et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome

(2015) Angel Chao et al.   BMC CANCER

Comprehensive genetic assessment of theESR1locus identifies a risk region for endometrial cancer

(2015) Tracy A O'Mara et al.   ENDOCRINE-RELATED CANCER

Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study

(2015) Yakir Segev et al.   Familial Cancer

Environmental (nongenetic) factors in gynecological cancers: update and future perspectives

(2015) Penelope M Webb   Future Oncology

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

(2015) Nuria Seguí et al.   GASTROENTEROLOGY

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

(2015) Matthew B. Yurgelun et al.   GASTROENTEROLOGY

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

(2015) Fernando Bellido et al.   GENETICS IN MEDICINE

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

Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

(2015) Isabel Spier et al.   INTERNATIONAL JOURNAL OF CANCER

Endometrial Cancers in Mutation Carriers From Hereditary Breast Ovarian Cancer Syndrome Kindreds

(2015) Murray Joseph Casey et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

(2015) Sanne W. ten Broeke et al.   JOURNAL OF CLINICAL ONCOLOGY

Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

(2015) Elena M. Stoffel et al.   JOURNAL OF CLINICAL ONCOLOGY

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

(2015) Susan J. Ramus et al.   JNCI-Journal of the National Cancer Institute

Breast cancer risk in women with PALB2 mutations in different populations

(2015) Antonis C Antoniou et al.   LANCET ONCOLOGY

Tamoxifen for prevention of breast cancer: extended long-term follow-up of the IBIS-I breast cancer prevention trial

(2015) Jack Cuzick et al.   LANCET ONCOLOGY

PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol

(2015) Joanne Ngeow et al.   METHODS

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

(2015) Robbert D A Weren et al.   NATURE GENETICS

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

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

Family History and Risk of Endometrial Cancer

(2015) Aung Ko Win et al.   OBSTETRICS AND GYNECOLOGY

Patterns and functional implications of rare germline variants across 12 cancer types

(2015) Charles Lu et al.   Nature Communications

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

(2015) Timothy HT Cheng et al.   Scientific Reports

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

(2015) Susan J. Ramus et al.   JNCI-Journal of the National Cancer Institute

GermlinePTEN,SDHB-D, andKLLNalterations in endometrial cancer patients with Cowden and Cowden-like syndromes: An international, multicenter, prospective study

(2014) Haider Mahdi et al.   CANCER

Polymerase ɛ (POLE) mutations in endometrial cancer: Clinical outcomes and implications for Lynch syndrome testing

(2014) Caroline C. Billingsley et al.   CANCER

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

(2014) Fadwa A Elsayed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

(2014) B. P. C. van de Warrenburg et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2014) Sigurdis Haraldsdottir et al.   GASTROENTEROLOGY

Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer

(2014) Aung Ko Win et al.   GASTROENTEROLOGY

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

(2014) Holly LaDuca et al.   GENETICS IN MEDICINE

Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

(2014) Luis G. Carvajal-Carmona et al.   HUMAN GENETICS

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

(2014) Jodie N. Painter et al.   HUMAN MOLECULAR GENETICS

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

GermlineTP53Mutations and the Changing Landscape of Li-Fraumeni Syndrome

(2014) Junne Kamihara et al.   HUMAN MUTATION

Multigene Panel Testing: Planning the Next Generation of Research Studies in Clinical Cancer Genetics

(2014) Mark Robson   JOURNAL OF CLINICAL ONCOLOGY

Reply to J. Moline et al

(2014) Daniel D. Buchanan et al.   JOURNAL OF CLINICAL ONCOLOGY

Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer

(2014) David N. Church et al.   JNCI-Journal of the National Cancer Institute

Li-Fraumeni syndrome: cancer risk assessment and clinical management

(2014) Kate A. McBride et al.   Nature Reviews Clinical Oncology

Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome-Spectrum Cancers

(2014) D. J. Park et al.   Cancer Discovery

Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1in a patient with bilateral breast and endometrial adenocarcinoma

(2013) Ellen Heitzer et al.   BMC Medical Genetics

The Landscape of Microsatellite Instability in Colorectal and Endometrial Cancer Genomes

(2013) Tae-Min Kim et al.   CELL

The Effect of CHEK2 Variant I157T on Cancer Susceptibility: Evidence from a Meta-Analysis

(2013) Fei-fei Han et al.   DNA AND CELL BIOLOGY

Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

(2013) Marry H. Nieuwenhuis et al.   Familial Cancer

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

(2013) Arjen R. Mensenkamp et al.   GASTROENTEROLOGY

The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: An international prospective cohort study

(2013) Yakir Segev et al.   GYNECOLOGIC ONCOLOGY

Multiplex Genetic Testing for Cancer Susceptibility: Out on the High Wire Without a Net?

(2013) Susan M. Domchek et al.   JOURNAL OF CLINICAL ONCOLOGY

Impact of Neonatal Screening and Surveillance for the TP53 R337H Mutation on Early Detection of Childhood Adrenocortical Tumors

(2013) Gislaine Custódio et al.   JOURNAL OF CLINICAL ONCOLOGY

Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for Population-Level Germline Mismatch Repair Gene Mutation Testing

(2013) Daniel D. Buchanan et al.   JOURNAL OF CLINICAL ONCOLOGY

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

(2012) Mohammed S. Orloff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BRCA1,TP53, andCHEK2germline mutations in uterine serous carcinoma

(2012) Kathryn P. Pennington et al.   CANCER

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

(2012) M.-H. Tan et al.   CLINICAL CANCER RESEARCH

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors

(2012) Isabelle Sourrouille et al.   Familial Cancer

Cancer Risks forMLH1andMSH2Mutation Carriers

(2012) James G. Dowty et al.   HUMAN MUTATION

Endometrial cancer in a 14-year-old girl with Cowden syndrome: A case report

(2012) William David Baker et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Endometrium is not the primary site of origin of pelvic high-grade serous carcinoma in BRCA1 or BRCA2 mutation carriers

(2012) Welmoed Reitsma et al.   MODERN PATHOLOGY

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

(2012) Claire Palles et al.   NATURE GENETICS

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

(2012) Weibin Zhou et al.   NATURE GENETICS

Sarcomas in TP53 germline mutation carriers

(2011) Simona Ognjanovic et al.   CANCER

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53

(2011) Ying Ni et al.   HUMAN MOLECULAR GENETICS

Incidence and Clinical Characteristics of Thyroid Cancer in Prospective Series of Individuals with Cowden and Cowden-Like Syndrome Characterized by GermlinePTEN,SDH, orKLLNAlterations

(2011) Joanne Ngeow et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2011) Anita Villani et al.   LANCET ONCOLOGY

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

(2011) Amanda B Spurdle et al.   NATURE GENETICS

Report of Endometrial Cancer in Australian BRCA1 and BRCA2 Mutation-Positive Families

(2011) David L. Duffy et al.   Twin Research and Human Genetics

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients

(2010) Frida Barak et al.   GYNECOLOGIC ONCOLOGY

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

(2010) Aung Ko Win et al.   INTERNATIONAL JOURNAL OF CANCER

BRCA1/2 Germline Mutations in Jewish Patients With Uterine Serous Carcinoma

(2010) Ilan Bruchim et al.   INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER

Germline Epigenetic Regulation of KILLIN in Cowden and Cowden-like Syndrome

(2010) Kristi L. Bennett   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

(2010) Marlies JE Kempers et al.   LANCET ONCOLOGY

The North American Neuroendocrine Tumor Society Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors

(2010) Herbert Chen et al.   PANCREAS

Two Estrogen-Related Variants in CYP19A1 and Endometrial Cancer Risk: A Pooled Analysis in the Epidemiology of Endometrial Cancer Consortium

(2009) V. W. Setiawan et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis

(2009) Stefanie Vogt et al.   GASTROENTEROLOGY

Lynch Syndrome—Related Endometrial Carcinomas Show a High Frequency of Nonendometrioid Types and of High FIGO Grade Endometrioid Types

(2009) Maria Luisa Carcangiu et al.   INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

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

Endometrial Cancer in an Adolescent

(2009) Kathleen M. Schmeler et al.   OBSTETRICS AND GYNECOLOGY

Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes

(2008) Ying Ni et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations

(2008) Rossella Tricarico et al.   CANCER LETTERS

CHEK2 I157T and Endometrial Cancer

(2008) Darina V. Konstantinova et al.   DNA AND CELL BIOLOGY

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS