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Genetics Faculty

Charis Eng
Professor/Vice Chair
Ph.D. Training Faculty
Genomic Medicine Institute
Lerner Research Institute
Cleveland Clinic NE50
9500 Euclid Avenue
Cleveland, Ohio 44195
Tel: (216) 444-3440
Fax: (216) 636-0655

About Charis Eng

Charis Eng, MD, PhD is the Chair and founding Director of the Genomic Medicine Institute of the Cleveland Clinic, founding Director and attending clinical cancer geneticist of the institute's clinical component, the Center for Personalized Genetic Healthcare, and Professor and Vice Chairman of the Department of Genetics at Case Western Reserve University School of Medicine. She holds a joint appointment as Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine and is a member of Cleveland Clinic's Taussig Cancer Center and of the CASE Comprehensive Cancer Center. Dr. Eng was honored with the Sondra J. and Stephen R. Hardis Endowed Chair in Cancer Genomic Medicine in 2008 and the American Cancer Society Clinical Research Professorship in 2009. More recently, she was elected to the Institute of Medicine (IOM) of the US National Academies. She continues to hold an honorary appointment at the University of Cambridge. Dr. Eng's research interests may be broadly characterized as clinical cancer genetics translational research. Her work on RET testing in multiple endocrine neoplasia type 2 and characterization of the widening clinical spectra of PTEN mutations have been acknowledged as the paradigm for the practice of clinical cancer genetics. At the clinical interface, Dr. Eng is acknowledged as one of the rare "go to" people on what is and how to implement genetic- and -omics-informed personalized healthcare.

Dr. Eng grew up in Singapore and Bristol, UK and entered the University of Chicago at the age of 16. After completing an MD and PhD at its Pritzker School of Medicine, she specialized in internal medicine at Beth Israel Hospital, Boston and trained in medical oncology at Harvard's Dana-Farber Cancer Institute. She was formally trained in clinical cancer genetics at the University of Cambridge and the Royal Marsden NHS Trust, UK, and in laboratory-based human cancer genetics by Prof Sir Bruce Ponder. At the end of 1995, Dr. Eng returned to the Farber as Assistant Professor of Medicine, and in January, 1999 was recruited by The Ohio State University as Associate Professor of Medicine and Director of the Clinical Cancer Genetics Program. In 2001, she was honored with the conferment of the Davis Professorship and appointed Co-Director of the Division of Human Genetics in the Department of Internal Medicine. In 2002, she was promoted to Professor and Division Director, and was conferred the Klotz Endowed Chair. She was recruited to the Cleveland Clinic in Sept, 2005. Dr. Eng has published over 320 peer reviewed original papers in such journals as the New England Journal of Medicine, JAMA, Lancet, Nature Genetics, Nature, Cell and Molecular Cell. She has received numerous awards and honors including election to the American Society of Clinical Investigation, to the Association of American Physicians and as Fellow of AAAS, the Doris Duke Distinguished Clinical Scientist Award and named a Local Legend from Ohio bestowed by the American Medical Women's Association in conjunction with the US Senate on women physicians who have demonstrated commitment, originality, innovation and/or creativity in their fields of medicine. Dr. Eng is the 2005 recipient of the ATA Van Meter Award at the 13th International Thyroid Conference, the 2006 Ernst Oppenheimer Award of The Endocrine Society and the 2006 American Cancer Society John Peter Minton, MD, PhD Hero of Hope Research Medal of Honor. She was recently selected as the Editor-in-Chief of Endocrine Related Cancer (2011-2015). She was the North American Editor of the Journal of Medical Genetics (1998-2005), Senior Editor of Cancer Research (2004-09), and Associate Editor of the Journal of Clinical Endocrinology and Metabolism (2005-09) and of the American Journal of Human Genetics (2007-09). Dr. Eng completed a 3-year term on the Board of Directors of the American Society of Human Genetics, has completed a 2-year term as Chair of the Clinical Science Committee of the Personalized Medicine Coalition and is serving a 5-year term on the Board of Scientific Directors of the National Human Genome Research Institute. Dr. Eng was appointed by Kathleen Sebelius to the US Department of Health and Human Services' Secretary's Advisory Committee on Genetics, Health and Society (2009-11). She also served as co-chair of their Task Force to examine whole genome sequencing for clinical application.


The optimal manner of achieving seamless translational cancer research is on a single platform of research, clinical care and education. On such a base, the broad thrust of the Eng laboratory can be characterized as clinical cancer genetics translational research, which involves the utilization and integration of multiple -omics-based platforms to identify, characterize and understand genes which cause susceptibility to high penetrance Mendelian and complex heritable cancers, to determine their role in sporadic carcinogenesis and to perform molecular epidemiologic analyses as they might relate to near-future clinical applications. Upon this framework, we are investigating the following broad topics:

Genetic and Functional Characterization of the Harmatoma-Tumor Syndromes: PTEN, KILLIN and Beyond

The translational objective of this group of projects is to obtain evidence to ensure accurate molecular diagnosis to sub-set individuals for genotype-specific risk assessment and medical management such as surveillance and prevention, as well as for family-specific gene predictive testing. Functional interrogation will then point to signaling pathways which will help inform future therapeutic and preventative targets, whether by naturally occurring compounds or by synthetic compounds.

Our prototype hamartoma-tumor syndrome is Cowden syndrome (CS), which is a difficult-to-recognize under-diagnosed autosomal dominant disorder characterized by multiple hamartomas and a high risk of breast and thyroid cancers. We mapped the CS predisposition to 10q23 and subsequently identified germline mutations in the PTEN tumor suppressor gene as associated with the majority of classic CS. Because of the difficulty in recognizing CS, despite the International Cowden Consortium Operational Diagnostic Criteria, many more (perhaps 10-100-fold more) individuals who have incomplete clinical features of CS present to be evaluated. Only 5-10% of such CS-like individuals have germline PTEN mutations. Relatedly, after analyzing 3,042 probands, we have recently created a PTEN risk calculator which is based on demographics and clinical features to come up with the most parsimonious features to predict prior probability of finding a PTEN mutation another strategy of examining mutational spectra and variable clinical expression, PTEN and a series of other relevant genes are being analyzed for individuals and families presenting with different clinical features, one of which includes unexplained hamartomatous polyps.

PTEN is ubiquitously expressed and plays broad cell signaling roles, chief of which includes G1 cell cycle arrest and apoptosis. In 2000, after we noticed PTEN nuclear expression by immunohistochemistry, we demonstrated that PTEN can traffick in and out of the nucleus. PTEN has 4 nuclear localization-like signals and only works in pairs. We subsequently also showed that PTEN has two ATP-binding motifs that are required for nuclear exit. We are particularly interested in the mechanisms of nuclear entry and exit, their partitioned function and how natural compounds such as resveratrol affects intracytoplastic localization in the context of neoplasia.

In 2008, we identified germline variants of SDHB and SDHD associated with 10% of individuals with PTEN mutation negative CS and CS-like. The succinate dehydrogenase genes were first described as the susceptibility genes for pheochromocytoma-paraganglioma syndromes, which we also characterized. We are currently examining the interaction of the SDH and PTEN pathways in modifying neoplasia risks.

A novel tumor suppressor gene KILLIN which shares the same transcription start site as PTEN was recently found to be transcribed in the opposite direction. Presumably PTEN and KILLIN share the same bidirectional promoter. Recently, we found that germline methylation of the bidirectional promoter was associated with downregulation of KILLIN but not PTEN. Germline KILLIN methylation was found in ~37% of individuals with PTEN mutation negative CS and CS-like individuals. Notably, individuals with germline KILLIN methylation have a 2-3-fold increased prevalence of breast and renal carcinomas over those with germline PTEN mutations. This is important for genetic counseling and risk management between the two genes. We are currently validating the role of KILLIN in CS/CS-like and its function.

Integrative Genomic Analysis for Systems Medicine Approach to Common Cancer Risk

We are pursuing several strategies, from single platform to multiple platform integration, to obtain in point-of-care risk calculators to facilitate risk assessment and subsequently personalized medical management. We are particularly interested in homozygosity mapping and its integration with various relevant platforms to come up with low-to-moderate penetrance and eventually interaction with environment. We focus on such solid tumors as carcinomas of the breast, lung, oropharyngeal, and prostate as well as uveal melanoma.

Integrative Genomic Analysis of the Micro and Macro Environment of Solid Tumors

A solid tumor is heterogeneous comprising the carcinomatous component and its microenvironment, in which we have shown genomic and expressional alterations relevant to clinical outcome. We are utilizing single and multiple platform strategies to examine the alterations in solid tumor microenvironment in the context of clinical outcomes. Furthermore, a solid tumor does not exist in isolation and in certain sites, are exposed to its non-human macroenvironment including microbial and other populations. We are utilizing metagenomic profiling to describe microbial populations in oropharyngeal squamous cell carcinomas as they relate to other somatic alterations and clinical outcome.

Selected Publications

He X, Wang Y, Zhu J, Orloff M, Eng C (2011)
Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling.
Cancer Lett;301(2):168-76
See PubMed abstract

Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C (2011)
A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands.
Am J Hum Genet;88(1):42-56
See PubMed abstract

He X, Ni Y, Wang Y, Romigh T, Eng C (2011)
Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.
Hum Mol Genet;20(1):80-9
See PubMed abstract

Bennett KL, Mester J, Eng C (2010)
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
See PubMed abstract

Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C (2010)
Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in a Prospective Series of PTEN Mutation Carriers.
See PubMed abstract

Wang Y, Romigh T, He X, Orloff MS, Silverman RH, Heston WD, Eng C (2010)
Resveratrol regulates the PTEN/AKT pathway through androgen receptor-dependent and -independent mechanisms in prostate cancer cell lines.
Hum Mol Genet;19(22):4319-29
See PubMed abstract

Eng C (2010)
Mendelian genetics of rare-and not so rare-cancers.
Ann N Y Acad Sci;:
See PubMed abstract

Frazier TW, Youngstrom EA, Sinclair L, Kubu CS, Law P, Rezai A, Constantino JN, Eng C (2010)
Autism spectrum disorders as a qualitatively distinct category from typical behavior in a large, clinically ascertained sample.
See PubMed abstract

Eng C (2010)
Common alleles of predisposition in endocrine neoplasia.
Curr Opin Genet Dev;2010; 20:251-256
See PubMed abstract

Hansel DE, Platt E, Orloff M, Harwalker J, Sethu S, Hicks JL, De Marzo A, Steinle RE, Hsi ED, Theodorescu D, Ching CB, Eng C (2010)
Mammalian target of rapamycin (mTOR) regulates cellular proliferation and tumor growth in urothelial carcinoma.
Am J Pathol;176(6):3062-72
See PubMed abstract

Eng C (2010)
PTEN Hamartoma Tumor Syndrome (PHTS).
In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews;http://www.ncbi.nlm.
See PubMed abstract

Eng C, Sharp RR (2010)
Bioethical and clinical dilemmas of direct-to-consumer genomic testing: the problem of misattributed equivalence
Science Transl Med;2: 17cm5

Bennett KL, Romigh T, Eng C (2009)
Disruption of transforming growth factor-beta signaling by five frequently methylated genes leads to head and neck squamous cell carcinoma pathogenesis.
Cancer Res;69(24):9301-5
See PubMed abstract

Edelman E, Eng C (2009)
A practical guide to interpretation and clinical application of personal genomic screening
Br Med J;339:b4253

Lobo GP, Waite KA, Planchon SM, Romigh T, Nassif NT, Eng C (2009)
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.
Hum Mol Genet;18(15):2851-62
See PubMed abstract

Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA (2009)
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
See PubMed abstract

Crouser ED, Culver DA, Knox KS, Julian MW, Shao G, Abraham S, Liyanarachchi S, Macre JE, Wewers MD, Gavrilin MA, Ross P, Abbas A, Eng C (2009)
Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis.
Am J Respir Crit Care Med;179(10):929-38
See PubMed abstract

Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, 39 others, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C (2009)
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out
Cancer Res;69(8):3650-6

Eng C (2008)
Microenvironmental protection in diffuse large-B-cell lymphoma.
N Engl J Med;359(22):2379-81
See PubMed abstract

Eng C (2008)
Cancer: A ringleader identified.
See PubMed abstract

Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C (2008)
Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes.
Am J Hum Genet;83(2):261-268
See PubMed abstract

Plon SE, Pirics ML, Nuchtern J, Hicks J, Russell H, Agrawal S, Zbuk K, Eng C, Hegde M, Chin EL (2008)
Multiple tumors in a child with germ-line mutations in TP53 and PTEN.
N Engl J Med;359(5):537-9
See PubMed abstract

Pezzolesi MG, Platzer P, Waite KA, Eng C (2008)
Differential expression of PTEN-targeting MicroRNAs miR-19a and miR-21 in Cowden syndrome.
Am J Hum Genet;82(5):1141-9
See PubMed abstract

AssiƩ G, LaFramboise T, Platzer P, Bertherat J, Stratakis CA, Eng C (2008)
SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples.
Am J Hum Genet;82(4):903-15
See PubMed abstract

AssiƩ G, LaFramboise T, Platzer P, Eng C (2008)
Frequency of germline genomic homozygosity associated with cancer cases.
See PubMed abstract

Patocs A, Zhang L, Xu Y, Weber F, Caldes T, Mutter GL, Platzer P, Eng C (2007)
Breast-cancer stromal cells with TP53 mutations and nodal metastases.
N Engl J Med;357(25):2543-51
See PubMed abstract

Heald B, Moran R, Milas M, Burke C, Eng C (2007)
Familial adenomatous polyposis in a patient with unexplained mental retardation.
Nat Clin Pract Neurol;3(12):694-700
See PubMed abstract

Teresi RE, Zbuk KM, Pezzolesi MG, Waite KA, Eng C (2007)
Cowden Syndrome-Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation.
Am J Hum Genet;81(4):756-67
See PubMed abstract

Zbuk KM, Patocs A, Shealy A, Sylvester H, Miesfeldt S, Eng C (2007)
Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.
Nat Clin Pract Oncol;4(10):608-12
See PubMed abstract

Neumann HP, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, Bausch B, Januszewicz A, Eng C (2007)
Evidence of MEN-2 in the original description of classic pheochromocytoma.
N Engl J Med;357(13):1311-5
See PubMed abstract

Fukino K, Shen L, Patocs A, Mutter GL, Eng C (2007)
Genomic instability within tumor stroma and clinicopathological characteristics of sporadic primary invasive breast carcinoma.
See PubMed abstract

Shen WH, Balajee AS, Wang J, Wu H, Eng C, Pandolfi PP, Yin Y (2007)
Essential role for nuclear PTEN in maintaining chromosomal integrity.
See PubMed abstract

Weber F, Xu Y, Zhang L, Patocs A, Shen L, Platzer P, Eng C (2007)
Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma.
See PubMed abstract

Zbuk KM, Eng C (2007)
Cancer phenomics: RET and PTEN as illustrative models.
Nat Rev Cancer;7(1):35-45
See PubMed abstract

Minaguchi T, Waite KA, Eng C (2006)
Nuclear localization of PTEN is regulated by Ca(2+) through a tyrosil phosphorylation-independent conformational modification in major vault protein.
Cancer Res;66(24):11677-82
See PubMed abstract

Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C. (2006)
Distinct expression profiles of PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
Am J Hum Genet;79:23-31
See PubMed abstract

Tang Y, Eng C. (2006)
PTEN autoregulates its expression by interacting with p53 in a phosphatase-independent manner.
Cancer Res;66:736-42
See PubMed abstract

Weber F, Shen L, Fukino K, Patocs A, Mutter GL, Caldes T, Eng C. (2006)
Total genome analysis of BRCA1/2-related carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.
Am J Hum Genet;78:961-72
See PubMed abstract

Tang Y, Eng C. (2006)
downregulates phosphatase and tensin homologue deleted on chromosome ten (PTEN) protein stability partially through caspase-mediated degradation in cells with proteosome dysfunction.
Cancer Res;66:6139-48 p53
See PubMed abstract

Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C. (2005)
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
See PubMed abstract

Kurose K, Gilley K, Matsumoto S, Watson PH, Zhou XP, Eng C. (2002)
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas
Nature Genet;32(3):355-7
See PubMed abstract

Chung JH, Eng C. (2005)
Nuclear-cytoplasmic partitioning of PTEN differentially regulates the cell cycle and apoptosis.
Cancer Res;65:8096-8100
See PubMed abstract

Chung JH, Ginn-Pease ME, Eng C. (2005)
Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import m
Cancer Res;65:4108-16
See PubMed abstract

Weber F, Shen L, Aldred MA, Morrison CD, Frilling A, Saji M, Schuppert F, Broelsch C, Ringel MD, Eng C. (2005)
Genetic classification of benign and malignant thyroid follicular neoplasias based on a 3-gene combination.
J Clin Endocrinol Metab;90:2515-21
See PubMed abstract

Fukino K, Shen L, Matsumoto S, Morrison CD, Mutter GL, Eng C. (2004)
Combined total genome loss-of-heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets.
Cancer Res;64:7231-6
See PubMed abstract

Neumann HPH, Pawlu C, Peçzkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley T, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C. (2004)
Distinct clinical features characterize paraganglioma syndromes associated with SDHB and SDHD mutations.
See PubMed abstract

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg L, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. (2003)
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
Am J Hum Genet;73:404-11
See PubMed abstract

Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. (2003)
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Nature Rev Cancer;3:193-202
See PubMed abstract

Ginn-Pease ME, Eng C. (2003)
Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0G1 in MCF-7 cells
Cancer Res;63:282-6
See PubMed abstract

Zhou XP, Marsh DJ, Morrison CD, Maxwell M, Reifenberger G, Eng C. (2003)
Germline and somatic PTEN mutations and decreased expression of PTEN protein and dysfunction of the PI3K/Akt pathway in Lhermitte-Duclos disease.
Am J Hum Genet;73:1191-8
See PubMed abstract

Waite KA, Eng C. (2003)
From developmental disorder to cancer: it's all in the BMP/TGFB family.
Nature Rev Genet;4:763-73
See PubMed abstract

Neumann HPH, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehöfer C, Zerres K, Januszewicz A, Eng C (2002)
Germ-line mutations in nonsyndromic pheochromocytoma.
N Engl J Med;346:1459-66.
See PubMed abstract

Zhou XP, Hampel H, Thiele H, Gorlin RJ, Hennekam RCM, Parisi M, Winter RM, Eng C. (2001)
Association of germline mutation in the PTEN tumour suppressor gene and a subset of Proteus sand Proteus-like syndromes.
See PubMed abstract

Mutter GL, Lin M-C, FitzGerald JT, Kum JB, Baak JPA, Lees JA, Weng LP, Eng C. (2000)
Altered PTEN expression as a molecular diagnostic marker for the earliest endometrial precancers.
J Natl Cancer Inst;92:924-31
See PubMed abstract

Nilsson O, Tisell L-E, Jansson S, Ahlman H, Gimm O, Eng C. (1999)
Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation.
See PubMed abstract

Sarraf P, Mueller E, Smith WM, Wright HM, Kum JB, Aaltonen LA, de la Chapelle A, Speigelman BM, Eng C (1999)
Loss-of-function mutations in PPARgamma associated with human colon cancer.
Mol Cell;3:799-804
See PubMed abstract

Eng C, Peacocke M. (1998)
PTEN mutation analysis as a molecular diagnostic tool in the inherited hamartoma-cancer syndromes.
Nature Genet;19:223
See PubMed abstract

Marsh DJ, Dahia PLM, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C (1997)
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Nature Genet;16:333-4
See PubMed abstract

Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C*, Parsons R*(*Joint Senior Authors) (1997)
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
Nat Genet.;16(1):64-7
See PubMed abstract

Eng C, Vijg J. (1997)
Genetic testing: the problems and the promise.
Nature Biotechnol;15:422-6
See PubMed abstract

Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, Ploos van Amstel HK, Lips CJM, Nishisho I, Takai S-I, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjöld M, Komminoth P, Hendy GN, Gharib H, Thibodeau SN, Lacroix A, Frilling A, Ponder BAJ, Mulligan LM (1996)
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET Mutation Consortium analysis.
See PubMed abstract

Nelen MR, Padberg GW, Peeters EAJ, Lin A, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MMM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman ECM, Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C. (1996)
Localization of the gene for Cowden disease to 10q 22-23.
Nature Genet;13(1):114-6
See PubMed abstract