A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing

(2014) Christine E. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pheochromocytoma and paraganglioma syndromes: genetics and management update

(2014) M. Lefebvre et al.   Current Oncology

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

(2014) Pilar Ramos et al.   NATURE GENETICS

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

(2014) Leora Witkowski et al.   NATURE GENETICS

ACOG Practice Bulletin No. 103: Hereditary Breast and Ovarian Cancer Syndrome

(2014)   OBSTETRICS AND GYNECOLOGY

Prevalence of BRCA Mutations Among Women with Triple-Negative Breast Cancer (TNBC) in a Genetic Counseling Cohort

(2013) Rachel Greenup et al.   ANNALS OF SURGICAL ONCOLOGY

Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update

(2013) Samuel A. Wells et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GermlineBRCAMutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer

(2013) Elena Castro et al.   JOURNAL OF CLINICAL ONCOLOGY

What’s the Harm? Genetic Counselor Perceptions of Adverse Effects of Genetics Service Provision by Non-Genetics Professionals

(2013) Tracy A. Bensend et al.   Journal of Genetic Counseling

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

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome

(2013) Mark Clendenning et al.   PLoS One

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study

(2012) Florentia Fostira et al.   BREAST CANCER RESEARCH AND TREATMENT

Adverse Events in Cancer Genetic Testing

(2012) Karina L. Brierley et al.   CANCER JOURNAL

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

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

Cancer-associated genodermatoses: Skin neoplasms as clues to hereditary tumor syndromes

(2012) Giovanni Ponti et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Juvenile Polyposis Syndrome

(2012) Andrew R. Latchford et al.   DISEASES OF THE COLON & RECTUM

A Population-based Assessment of Germline HOXB13 G84E Mutation and Prostate Cancer Risk

(2012) Robert Karlsson et al.   EUROPEAN UROLOGY

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)

(2012) Jianfeng Xu et al.   HUMAN GENETICS

Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas

(2012) Shilpa Grover et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

(2012) Rajesh V. Thakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors

(2012) Lindsey Oudijk et al.   MODERN PATHOLOGY

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

(2012) Emma Jaeger et al.   NATURE GENETICS

Germline Mutations inHOXB13and Prostate-Cancer Risk

(2012) Charles M. Ewing et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sarcomas in TP53 germline mutation carriers

(2011) Simona Ognjanovic et al.   CANCER

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

(2011) F. Bourdeaut et al.   CLINICAL CANCER RESEARCH

Incidence and Outcome of BRCA Mutations in Unselected Patients with Triple Receptor-Negative Breast Cancer

(2011) A. M. Gonzalez-Angulo et al.   CLINICAL CANCER RESEARCH

A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer

(2011) Rajini Seevaratnam et al.   Gastric Cancer

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

(2011) Valérie Bonadona   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Lynch Syndrome and MYH-Associated Polyposis

(2011) McKinsey Goodenberger et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

(2011) B. Gardie et al.   JOURNAL OF MEDICAL GENETICS

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

(2011) R. Pilarski et al.   JOURNAL OF MEDICAL 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

ATM Mutations in Patients with Hereditary Pancreatic Cancer

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

PALB2 mutations in European familial pancreatic cancer families

(2010) EP Slater et al.   CLINICAL GENETICS

Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families

(2010) Emily P. Slater et al.   Familial Cancer

Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers

(2010) Brandie Heald et al.   GASTROENTEROLOGY

Constitutional mismatch repair-deficiency syndrome

(2010) K. Wimmer et al.   HAEMATOLOGICA

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

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

(2010) R. C. Fitzgerald et al.   JOURNAL OF MEDICAL GENETICS

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

(2010) Katherine W. Eaton et al.   PEDIATRIC BLOOD & CANCER

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

(2010) K. A. Janeway et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Should Routine Analysis of the MEN1 Gene be Performed in all Patients with Primary Hyperparathyroidism Under 40 Years of Age?

(2010) Anita Skandarajah et al.   WORLD JOURNAL OF SURGERY

Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome

(2009) Peh Yean Cheah et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Biochemistry, genetics and therapy of malignant pheochromocytomas

(2009) M. Mannelli   ANNALES D ENDOCRINOLOGIE

The prevalence of BRCA1 mutations among young women with triple-negative breast cancer

(2009) SR Young et al.   BMC CANCER

Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

(2009) H. P.H. Neumann et al.   CANCER RESEARCH

Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families

(2009) DK Bartsch et al.   CLINICAL GENETICS

Hereditary mixed polyposis syndrome due to a BMPR1A mutation

(2009) J. M. O’Riordan et al.   Colorectal Disease

MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism: 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan

(2009) Minoru KIHARA et al.   ENDOCRINE JOURNAL

Analysis of the Gene Coding for the BRCA2-Interacting Protein PALB2 in Familial and Sporadic Pancreatic Cancer

(2009) Marc D. Tischkowitz et al.   GASTROENTEROLOGY

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

(2009)   GENETICS IN MEDICINE

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

(2009) Glenn E Palomaki et al.   GENETICS IN MEDICINE

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation

(2009) T. Ripperger et al.   HAEMATOLOGICA

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

(2009) Jérôme Bertherat et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation

(2009) Steven J. Lubbe 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

Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

(2009) S. Jones et al.   SCIENCE

Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association

(2009) Richard T. Kloos (Chair) et al.   THYROID

Papillary thyroid carcinoma and familial adenomatous polyposis of the colon

(2008) Kimberly A. Donnellan et al.   AMERICAN JOURNAL OF OTOLARYNGOLOGY

Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype

(2008) A Mitra et al.   BRITISH JOURNAL OF CANCER

When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma?

(2008) Zoran Erlic et al.   CLINICAL ENDOCRINOLOGY

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

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY

BRCAGermline Mutations in Jewish Patients With Pancreatic Adenocarcinoma

(2008) Cristina R. Ferrone et al.   JOURNAL OF CLINICAL ONCOLOGY

Thyroid Cancer Genetics: Multiple Endocrine Neoplasia Type 2, Non-Medullary Familial Thyroid Cancer, and Familial Syndromes Associated with Thyroid Cancer

(2008) Melanie L. Richards   Surgical Oncology Clinics of North America

American Founder Mutation for Attenuated Familial Adenomatous Polyposis

(2007) Deborah W. Neklason et al.   Clinical Gastroenterology and Hepatology