Selected Peer Reviewed Publications (from more than 300)

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. Localization of the gene for Cowden disease to 10q22-23. Nature Genet 1996; 13:114-6.

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. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET Mutation Consortium analysis. JAMA 1996; 276:1575-9.

Eng C. Seminars in Medicine of the Beth Israel Hospital, Boston: RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease. N Engl J Med 1996; 335:943-51.

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

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

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

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

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

Zhou XP, Hampel H, Thiele H, Gorlin RJ, Hennekam RCM, Parisi M, Winter RM, Eng C. Association of germline mutation in the PTEN tumour suppressor gene and a subset of Proteus sand Proteus-like syndromes. Lancet 2001; 358:210-1.

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

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

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

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

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. 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 2003; 73:404-11.

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

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. Distinct clinical features characterize paraganglioma syndromes associated with SDHB and SDHD mutations. JAMA 2004; 292:943-51.

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

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

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

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. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005; 294:2465-73.

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

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

Pezzolesi MG, Li Y, Zhou XP, Pilarski R, Shen L, Eng C. Mutation positive and mutation negative Cowden and Bannayan-Riley-Ruvalcaba syndrome patients associated with distinct haplotypes. Am J Hum Genet 2006; 79; 923-34.

Minaguchi T, Waite KA, Eng C. Nuclear import of PTEN is regulated by calcium through a tyrosil phosphorylation-independent conformational change. Cancer Res 2006; 66:11677-82.

Weber F, Xu Y, Zhang L, Patocs A, Shen L, Platzer P, Eng C. Microenvironmental genomic alterations and clinico-pathologic behavior in head and neck squamous cell carcinomas. JAMA 2007; 297:187-95.

Shen WH, Balajee AS, Wang J, Wu H, Eng C, Pandolfi PP, Yin Y. Essential role of PTEN in the maintenance of chromosome integrity. Cell 2007; 128:157-70.

Fukino K, Shen L, Patocs A, Mutter GL, Eng C. Genomic instability within tumor stroma and clinicopathologic characteristics of sporadic primary invasive breast carcinomas. JAMA 2007; 297:2103-11.

Zbuk KM, Patocs A, Shealy A, Sylvester H, Miesfeldt S, Eng C. Germline
mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and
carotid paranganglioma. Nature Clin Pract Oncol 2007; 4:608-12.

Teresi RE, Zbuk KM, Pezzolesi MG, Waite KA, Eng C. Cowden syndrome patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet 2007; 81:756-67. [PMID 17847000]

Neumann HPH, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, Bausch B,
Januzewicz A, Eng C. Evidence for MEN 2 in the original description of
pheochromocytoma. N Engl J Med 2007; 357:1311-5. (Link to Cleveland Plain Dealer article, September 28, 2007)

Patocs A, Zhang L, Xu Y, Weber F, Caldes T, Mutter GL, Platzer P, Eng C.
Stromal TP53 mutation or 5-locus allelic imbalance and nodal metastases in
breast cancer. N Engl J Med 357:2543-51.

Assié G, LaFramboise T, Platzer P, Eng C. High frequency of germline genomic homozygosity associated with cancer cases. JAMA 2008; 299:1437-45.

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

Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet 2008; 83:261-8

Eng C. News and Views. Cancer: A ringleader identified. Nature 2008;
455:883-4.

Eng C. Editorial: Microenvironmental protection in diffuse large B-cell
lymphoma. N Engl J Med 2008; 359:2379-81.

Neumann HPH, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Ridder G, Hoffman MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Mattias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stover T, Fottner C, Gorgulla H, Schipper J, Brase C, Glien A, Kuehnemund M, Koscielny S, Schwerdtfeger P, Valimaki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder G, Januszewicz A, Suarez C, Eng C. Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res 2009; 69:3650-6.

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

Edelman EE, Eng C. Invited Clinical Review: A practical guide to interpretation and clinical application of personal genomic screening. Br Med J 2009; 339:1136-40 (cite as 339:b4253).

Heald B, Mester M, Rybicki LA, Orloff MS, Burke CA, Eng C. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 2010; 139:1927-33. More: US News and World Report

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

He X, Ni Y, Wang Y, Romigh T, Eng C. Naturally-occuring 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 2010; 20:89-9.

Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndromes. JAMA 2010; 304:2724-31. Article in Cleveland Plain Dealer

Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. A proposed clinical scoring system for selection of patients for PTEN mutation testing based on prospective cohort analysis of 3,042 probands. Am J Hum Genet 2011; 88: 42-56

Orloff MS, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C. Germline Mutations in MSR1, ASCC1 and CTHRC1 in Individuals with Barrett Esophagus and/or Esophageal Adenocarcinoma. JAMA 2011; 306:410-9.