10 rare tumors that warrant a genetics referral

Genetic/Familial High-Risk Assessment: Breast and Ovarian

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

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

(2014)   OBSTETRICS AND GYNECOLOGY

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

(2012) N. Burnichon et al.   CLINICAL CANCER RESEARCH

Germline Mutations of theTMEM127Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites

(2011) Hartmut P. H. Neumann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Impact of Germline BHD Mutation on Histological Concordance and Clinical Treatment of Patients With Bilateral Renal Masses and Known Unilateral Oncocytoma

(2011) Ronald S. Boris et al.   JOURNAL OF UROLOGY

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

(2011) Anita Villani et al.   LANCET ONCOLOGY

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations

(2010) M G F van Lier et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Clinical features in the Wiedemann-Beckwith syndrome

(2010) Roberto Martinezy Martinez   CLINICAL GENETICS

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

(2010) DL Smit et al.   CLINICAL GENETICS

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas

(2010) Li Yao et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

(2010) Jean-Pierre Bayley et al.   LANCET ONCOLOGY

Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling

(2010) Seung-Beom Hong et al.   Molecular Cancer

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

Towards Identification of Hereditary DNA Mismatch Repair Deficiency: Sebaceous Neoplasm Warrants Routine Immunohistochemical Screening Regardless of Patientʼs Age or Other Clinical Characteristics

(2009) Lurmag Orta et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Multistep Level Sections to Detect Occult Fallopian Tube Carcinoma in Risk-reducing Salpingo-oophorectomies From Women With BRCA Mutations

(2009) Joseph T. Rabban et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients

(2009) Z. Erlic et al.   CLINICAL CANCER RESEARCH

BeyondBRCA1andBRCA2wild-type breast and/or ovarian cancer families: germline mutations inTP53andPTEN

(2009) A Blanco et al.   CLINICAL GENETICS

Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum

(2009) Mef Nilbert et al.   Familial Cancer

Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression

(2009) Carla Oliveira et al.   GASTROENTEROLOGY

Deletions removing the last exon ofTACSTD1constitute a distinct class of mutations predisposing to Lynch syndrome

(2009) Marietta E. Kovacs et al.   HUMAN MUTATION

The Approach to the Patient with Paraganglioma

(2009) Hartmut P. H. Neumann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families Withp53Germline Mutations

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

Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin

(2009) V. Hudon et al.   JOURNAL OF MEDICAL GENETICS

High frequency of de novo mutations in Li-Fraumeni syndrome

(2009) K D Gonzalez et al.   JOURNAL OF MEDICAL GENETICS

Birt-Hogg-Dubé syndrome: diagnosis and management

(2009) Fred H Menko et al.   LANCET ONCOLOGY

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE

Clinical Features of Paraganglioma Syndromes

(2009) Carsten Boedeker et al.   SKULL BASE-AN INTERDISCIPLINARY APPROACH

Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association

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

Association of Germline Mutations in the Fumarate Hydratase Gene and Uterine Fibroids in Women With Hereditary Leiomyomatosis and Renal Cell Cancer

(2008) Laveta Stewart et al.   ARCHIVES OF DERMATOLOGY

Adrenocortical carcinoma in the United States

(2008) Karl Y. Bilimoria et al.   CANCER

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

(2008) Zoran Erlic et al.   CLINICAL ENDOCRINOLOGY

The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families

(2008) C. D. South et al.   JNCI-Journal of the National Cancer Institute

Germline SDHB Mutations and Familial Renal Cell Carcinoma

(2008) C. Ricketts et al.   JNCI-Journal of the National Cancer Institute

Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients

(2008) Jose M. Rodriguez et al.   WORLD JOURNAL OF SURGERY