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2012 Kenny Rd
Columbus, OH 43221

Phone: (614) 293-7774

Email: pilarski.2@osu.edu

 

Current OSU Appointment

Associate Professor-Clinical, Human Genetics

 

Biographical

Mr. Pilarski obtained a Bachelor of Sciences degree in Zoology, Magna Cum Laude, from Michigan State University in 1980. After taking time off to serve in the Peace Corps doing leprosy care in South Korea, he obtained a Master of Sciences Degree in Medical Genetics/Genetic Counseling from the University of Wisconsin, Madison in 1984. He served as a Genetic Counselor in the Medical Genetics Department of the University of British Columbia, Vancouver, BC, Canada from 1984-1986. Obtained Board Certification from the American Board of Medical Genetics in 1987, which was later transferred to the American Board of Genetic Counseling, and remains current. From 1986 -2000 he was a genetic counselor and Instructor of Pediatrics in the Division of Human Genetics at the University of Connecticut Health Center, Farmington, CT. He assumed his current position as a genetic counselor at The Ohio State University's Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, in July, 2000. He was appointed as a Clinical Instructor of Medicine in January 2001, and was promoted to Clinical Assistant Professor in October, 2007 and Associate Professor of Clinical Internal Medicine in January 2011. Mr. Pilarski obtained Master of Social Work degree in 2010 while retaining his full time employment in the Division of Human Genetics. He uses his training as a therapist to advance his work with patients with hereditary diseases, and to inform his teaching of counseling skills and techniques with the students in the Division's genetic counseling training program.



Mr. Pilarski's clinical responsibilities include providing genetic risk assessment and counseling for patients and families at risk for a wide range of hereditary cancer syndromes, regarding cancer risk, genetic testing, and medical management recommendations. Mr. Pilarski's current research responsibilities lie in three areas. He is co-investigator and coordinator of the Columbus Breast Cancer Tissue Bank (Maryam Lustburg, MD, PI), a tissue archive service collecting DNA, RNA, cell lines, tissue samples, tissue microarrays and clinical data on women diagnosed with breast cancer in the Columbus area. Samples and corresponding clinical information are made available to researchers at OSUMC and outside institutions. Through this he has been a co-investigator in a number of investigator-initiated research protocols. He also has an ongoing research interest in Cowden syndrome, through involvement in past funded research (coordinating a large national study on genetic testing for this disease) and his role as clinical liaison to the OSU Molecular Pathology Laboratory (Thomas Prior, Ph.D., Director), which provides clinical PTEN gene testing for this disease. Because of this work he was appointed to lead the National Comprehensive Cancer Network (NCCN) working group on Cowden syndrome testing criteria. He also initiated and led a working group which systematically assessed the evidence supporting the various clinical features of this disorder and subsequently revised the national/international diagnostic criteria for PTEN-related diseases. And finally, he is a co-investigator on several Uveal Melanoma genetic research studies in collaboration with Drs. Frederick Davidorf and Mohamed Abdel-Rahman in the Department of Ophthalmology. The group co-discovered the BAP1 Tumor Predisposition syndrome and was the first in the world to propose comprehensive testing and management guidelines for the disorder.



Mr. Pilarski also has a long history of professional involvement with the National Society of Genetic Counselors, including roles on the Board or Directors and numerous standing and ad hoc committees. He is also a founding co-director and ongoing active member of the NSGC's Cancer Genetics Special Interest Group, and has coordinated their online directory of genetic research studies since 1998. He is a long term member of the NCCN Panel on High Risk Breast/Ovarian Cancer guidelines, and was appointed the first ever vice-chair of the panel in 2013.

Advising Narrative

I have served as a research mentor for Karan Rai for 4 years beginning in 2012. Karan has received funding for his research through the Undergraduate Research Scholarship from the Arts and Sciences Honors Committee. He has also carried out an independent project which culminated in a first-author publication as well as a senior thesis for which I served as an advisor and committee member. He has also presented his research at campus research forums including the Natural and Mathematical Sciences Research Forum and the Denman Undergraduate Research Forum in 2015 at which he received 4th place. In all, Karan has been involved with 4 research publications as a first- or co-author as well as 10 abstracts presented at national and international conferences. I continue to serve as his research advisor while in graduate school.

Published Works

I have published consistently since my last promotion, with a total of 31 new publications. Of particularly impact were 1) Pilarski et al., 2011, "Predicting PTEN Mutations" (citation count 22) in which I used the largest cohort to date of patients with PTEN mutations to assess the significance of the individual clinical features of the syndrome; 2) Abdel-Rahman et al., 2011, "Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma and other cancers" (citation count 84) in which we were one of three groups concurrently reporting on the discovery of the BAP1 tumor predisposition syndrome; 3) Garcia-Closas et al., 2013, "Genome-wide association studies identify four ER negative-specific breast cancer risk loci" (citation count 97) reporting on GWAS loci identified from a large cohort including patients from our Breast Bank at OSU; and 4) Pilarski et al., 2013, "Cowden Syndrome and the PTEN Hamartoma Tumor syndrome" (citation count 35) in which I led a group which for the first time took an evidence-based approach to revising the national/international diagnostic criteria for PTEN-related disorders.

Academic Advising

2012 Karan Rai, The Ohio State University. Graduated 2015. Comprehensive Review of BAP1 Tumor Predisposition Syndrome
2014 Kyle Dillahunt, The Ohio State University. Graduated 0.
2015 Margaret Stein, The Ohio State University. Graduated 0.
2015 Suttman, Alexandra, The Ohio State University. Graduated 0. Motivations for Males Affected by Hereditary Breast and Ovarian Cancer to Disclose Genetic Health Information
 

Licenses

1987 - present Certified Genetic Counselor: American Board of Medical Genetics
1993 - present Certified Genetic Counselor: American Board of Genetic Counseling
2013 - present Licensed Genetic Counselor: State Medical Board of Ohio
 

Chapters in Books

Pilarski R, Hampel H, Eng C. "PTEN Hamartoma Tumor Syndrome." In NORD Guide to Rare Disorders. Edited by National Organization of Rare Disorders. -. Philadelphia, PA, US|USA: Lippincott Williams and Wilkins, January 2002.

Pilarski, R, Nagy, R. "Genetic Testing by Cancer Site: Endocrine System." In Cancer: Principles and Practice of Oncology: Handbook of Clinical Cancer Genetics. -. Philadelphia: Wolters Kluwer/Lippincott Williams and Wilkins, May 2013.

Pilarski, R, Nagy, R. "Genetic Testing by Cancer Site: Endocrine System." In CANCER: Principles and Practice of Oncology. -. Philadelphia: Wolters Kluwer/Lippincott Williams and Wilkins, December 2014.

Pilarski, R, Nagy R. "Genetic Testing in the Endocrine System." In CANCER: Principles and Practice of Oncology, Primer of the Molecular Biology of Cancer. -. Philadelphia: Wolters Kluwer/Lippincott Williams and Wilkins, January 2015.

 

Conferences

Abdel-Rahman, MH; Pilarski, RT; Cebulla, CM; et al.. "Candidate Gene Testing in Uveal Melanoma patients with Relative High Risk for Hereditary Cancer." In Investigative Ophthalmology and Visual Science. (April 2012). 3335-.

Binkley, EM; Cebulla, CM; Pilarski, RT; et al.. "Lack of BAP1 germline gene mutation in patients with early onset uveal melanoma." In Investigative Ophthalmology and Visual Science. (April 2014). 5077-.

 

Degrees

1980 A.A.S., Michigan State University

1984 B.S.C.E., University of Wisconsin

2010 B.A.Jour., The Ohio State University

 

Editorial Activities

2001 - present Journal of Medical Genetics
2008 - present Journal of Genetic Counseling
2009 - present Cancer Treatment Reviews
2011 - present Journal of Clinical Oncology
2011 - present Breast Disease
2011 - present Annals of Vascular Surgery
2012 - present Saudi Medical Journal
2012 - present Clinical Genetics
2012 - present Gynecologic Oncology
2012 - present Journal of Medical Case Reports
2013 - present PLOS ONE
2013 - present Clinical Neuroradiology
2013 - present BMC Cancer
2013 - present Journal of Pediatric Radiology
2013 - present Genetics in Medicine
2014 - present Annals of Internal Medicine
2014 - present BMC Research Notes
2014 - present Application of Clinical Genetics
2015 - present Journal of the National Comprehensive Cancer Network
2016 BMC Case Reports
2016 Advanced Practice in Oncology
 

Journal Articles

Courtright, P; Green, R; Pilarski, R; Smucny, J. "A survey of the eye complications of leprosy in South Korea.." Leprosy review. Vol. 55, no. 3. (January 1984.): 229-237.

Pilarski, R, T; Pauli, R, M; Engber, W D. "Hand-reduction malformations: genetic and syndromic analysis.." Journal of pediatric orthopedics. Vol. 5, no. 3. (January 1985.): 274-280.

Pilarski, R, T; Pauli, R, M; Bresnick, G, H; Lebovitz, R M. "Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus.." Clinical genetics. Vol. 27, no. 1. (January 1985.): 97-101.

Pilarski, R, T; Greenstein, R, M; Benn, P. "Developing a role for genetics within a cancer program.." Annals of the New York Academy of Sciences. Vol. 768, (January 1995.): -.

Shattuck-Eidens, D; Oliphant, A; McClure, M; McBride, C; Gupte, J; Rubano, T; Pruss, D; Tavtigian, S, V; Teng, D, H; Adey, N; Staebell, M; Gumpper, K; Lundstrom, R; Hulick, M; Kelly, M; Holmen, J; Lingenfelter, B; Manley, S; Fujimura, F; Luce, M; et al.. "BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.." JAMA : the journal of the American Medical Association. Vol. 278, no. 15. (January 1997.): 1242-1250.

Pilarski, R; Greenstein, R M. "Cancer gene testing?." Connecticut medicine. Vol. 62, no. 4. (January 1998.): 248-?.

Pilarski, R, T; Brothman, A, R; Benn, P; Shulman Rosengren, S. "Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q.." American journal of medical genetics. Vol. 86, no. 4. (January 1999.): 321-324.

Zhou, X, P; Woodford-Richens, K; Lehtonen, R; Kurose, K; Aldred, M; Hampel, H; Launonen, V; Virta, S; Pilarski, R; Salovaara, R; Bodmer, W, F; Conrad, B, A; Dunlop, M; Hodgson, S, V; Iwama, T; Jarvinen, H; Kellokumpu, I; Kim, J, C; Leggett, B; Markie, D; et al.. "Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.." American journal of human genetics. Vol. 69, no. 4. (January 2001.): 704-711.

Zhou, Xiao-Ping; Waite, Kristin, A; Pilarski, Robert; Hampel, Heather; Fernandez, Magali, J; Bos, Cindy; Dasouki, Majed; Feldman, Gerald, L; Greenberg, Lois, A; Ivanovich, Jennifer; Matloff, Ellen; Patterson, Annette; Pierpont, Mary Ella; Russo, Donna; Nassif, Najah, T; Eng, Charis. "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.." American journal of human genetics. Vol. 73, no. 2. (January 2003.): 404-411.

Pilarski, R; Eng, C. "Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.." Journal of Medical Genetics. Vol. 41, no. 5. (January 2004.): -.

McWhinney, Sarah, R; Pilarski, Robert, T; Forrester, Shawnia, R; Schneider, Michael, C; Sarquis, M Marta; Dias, Eduardo, P; Eng, Charis. "Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.." The Journal of clinical endocrinology and metabolism. Vol. 89, no. 11. (January 2004.): 5694-5699.

Oktenli, Cagatay; Gul, Davut; Deveci, M Salih; Saglam, Mutlu; Upadhyaya, Meena; Thompson, Peter; Consoli, Claudia; Kocar, Ismail, H; Pilarski, Robert; Zhou, Xiao-Ping; Eng, Charis. "Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.." American journal of medical genetics. Part A. Vol. 127, no. 3. (January 2004.): 298-301.

Agrawal, Shipra; Pilarski, Robert; Eng, Charis. "Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.." Human molecular genetics. Vol. 14, no. 16. (January 2005.): 2459-2468.

Butler, M, G; Dasouki, M, J; Zhou, X-P; Talebizadeh, Z; Brown, M; Takahashi, T, N; Miles, J, H; Wang, C, H; Stratton, R; Pilarski, R; Eng, C. "Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.." Journal of medical genetics. Vol. 42, no. 4. (January 2005.): 318-321.

Sweet, Kevin; Willis, Joseph; Zhou, Xiao-Ping; Gallione, Carol; Sawada, Takeshi; Alhopuro, Pia; Khoo, Sok Kean; Patocs, Attila; Martin, Cossette; Bridgeman, Scott; Heinz, John; Pilarski, Robert; Lehtonen, Rainer; Prior, Thomas, W; Frebourg, Thierry; Teh, Bin Tean; Marchuk, Douglas, A; Aaltonen, Lauri, A; Eng, Charis. "Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.." JAMA : the journal of the American Medical Association. Vol. 294, no. 19. (January 2005.): 2465-2473.

Pyatt, Robert, E; Pilarski, Robert; Prior, Thomas W. "Mutation screening in juvenile polyposis syndrome.." The Journal of molecular diagnostics : JMD. Vol. 8, no. 1. (January 2006.): 84-88.

Tekin,Mustafa; Hismi,Burcu,Oztürk; Fitoz,Suat; Yalçinkaya,Fatos; Ekim,Mesiha; Kansu,Aydan; Ertem,Mehmet; Deda,Gülhis; Tutar,Ercan; Arsan,Saadet; Zhou,Xiao-Ping; Pilarski,Robert; Eng,Charis; Akar,Nejat. "A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.." American journal of medical genetics. Part A. Vol. 140, no. 13. (July 2006.): 1472-1475.

Tekin, Mustafa; Hismi, Burcu Ozturk; Fitoz, Suat; Yalcinkaya, Fatos; Ekim, Mesiha; Kansu, Aydan; Ertem, Mehmet; Deda, Gulhis; Tutar, Ercan; Arsan, Saadet; Zhou, Xiao-Ping; Pilarski, Robert; Eng, Charis; Akar, Nejat. "A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.." American journal of medical genetics. Part A. Vol. 140, no. 13. (January 2006.): 1472-1475.

Sarquis, Marta, S; Agrawal, Shipra; Shen, Lei; Pilarski, Robert; Zhou, Xiao-Ping; Eng, Charis. "Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.." American journal of human genetics. Vol. 79, no. 1. (January 2006.): 23-30.

Pezzolesi, Marcus, G; Li, Yan; Zhou, Xiao-Ping; Pilarski, Robert; Shen, Lei; Eng, Charis. "Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.." American journal of human genetics. Vol. 79, no. 5. (January 2006.): 923-934.

Pilarski, Robert. "Risk perception among women at risk for hereditary breast and ovarian cancer.." Journal of Genetic Counseling. Vol. 18, no. 4. (January 2009.): 303-312.

Pilarski, Robert. "Cowden syndrome: a critical review of the clinical literature.." Journal of Genetic Counseling. Vol. 18, no. 1. (January 2009.): 13-27.

Ginsburg OM, Akbari MR, Aziz Z, Young R, Lynch H, Ghadirian P, Robidoux A, Londono J, Vasquez G, Gomes M, Costa MM, Dimitrakakis C, Gutierrez G, Pilarski R, Royer R, Narod SA.. "The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30.." Familial Cancer. Vol. 8, (January 2009.): 563-567.

Young, SR, Pilarski RT, Donenberg, T, Shapiro, C, Hammond, LS, Miller, J, Brooks, KA, Cohen, S, Tenenholz, B, DeSai, D, Zandvakili, I, Royer, R, Li, S and Narod, SA.. "The prevalence of BRCA mutations among young women with triple negative breast cancer.." BMC Cancer. Vol. 9, (January 2009.): 86-90.

Guler, G, Huebner, K, Himmetoglu, C, Jimenez, R.E., Costinean, S, Volinia, S, Pilarski, RT, Hayran, M, Shapiro?, CL.. "Fragile histidine triad protein, WW domain-containing oxidoreductase protein Wwox, and activator protein 2γ expression levels correlate with basal phenotype in breast cancer.." Cancer. Vol. 115, no. 4. (January 2009.): 899-908.

Sweet K, Senter L, Pilarski R, Wei L, Toland AW. "Characterization of BRCA1 ring finger variants of uncertain significance.." Breast Cancer Res Treat. Vol. 119, no. 3. (January 2010.): 737-743.

Abdel-Rahman, MH, Pilarski, R, Ezzat, S, Sexton, J, and Davidorf, FH. "Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma.." Familial Cancer. Vol. 9, (August 2010.): 431-438.

Abdel-Rahman, MH, Pilarski, R.. "Hereditary predisposition rather than environmental factors are likely to explain the familial link between uveal melanoma and other cancers.." Familial Cancer. Vol. 9, (January 2010.): 661-662.

Westman, JA, Ferketich, AK, Kauffman, RM, MacEachern, SN, Wilkins III, JR, Wilcox, PP, Pilarski, RT, Nagy, R, Lemeshow, S, de la Chapelle, A, Bloomfield, CD.. "Low cancer incidence rates in Ohio Amish.." Cancer Causes and Control. Vol. 21, no. 1. (January 2010.): 69-75.

Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN.. "Genetic/familial high-risk assessment: breast and ovarian.." J Natl Compr Canc Netw. Vol. 8, no. 5. (January 2010.): 562-594.

Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill J, Christopher B, Hovland P, Davidorf FH.. "Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma and other cancers.." Journal of Medical Genetics. Vol. 48, no. 12. (December 2011.): 856-859.

Kais,Zeina; Barsky,Sanford,H; Mathsyaraja,Haritha; Zha,Alicia; Ransburgh,Derek,JR; He,Gang; Pilarski,Robert,T; Shapiro,Charles,L; Huang,Kun; Parvin,Jeffrey,D. "KIAA0101 Interacts with BRCA1 and Regulates Centrosome Number." Molecular Cancer Research. Vol. 9, no. 8. (August 2011.): 1091-1099.

Guler,Gulnur; Himmetoglu,Cigdem; Jimenez,Rafael,E; Geyer,Susan,M; Wang,Wenle,P; Costinean,Stefan; Pilarski,Robert,T; Morrison,Carl; Suren,Dinc; Liu,Jianhua; Chen,Jingchun; Kamal,Jyoti; Shapiro,Charles,L; Huebner,Kay. "Aberrant expression of DNA damage response proteins is associated with breast cancer subtype and clinical features." BREAST CANCER RESEARCH AND TREATMENT. Vol. 129, no. 2. (September 2011.): 421-432.

Abdel-Rahman,Mohamed,H; Pilarski,Robert; Massengill,James,B; Christopher,Benjamin,B; Davidorf,Frederick,H. "Lack of GNAQ germline mutations in uveal melanoma patients with high risk for hereditary cancer predisposition." Familial Cancer. Vol. 10, no. 2. (June 2011.): 319-321.

Abdel-Rahman,Mohamed,H; Pilarski,Robert; Massengill,James,B; Christopher,Benjamin,N; Noss,Ryan; Davidorf,Frederick,H. "Melanoma candidate genes CDKN2A/p16/INK4A, p14ARF, and CDK4 sequencing in patients with uveal melanoma with relative high-risk for hereditary cancer predisposition." Melanoma Research. Vol. 21, no. 3. (June 2011.): 175-179.

Pilarski,Robert; Stephens,Julie,A; Noss,Ryan; Fisher,James,L; Prior,Thomas,W. "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features." Journal of Medical Genetics. Vol. 48, no. 8. (August 2011.): 505-512.

Pilarski,Robert; Nagy,Rebecca. "Genetic Testing by Cancer Site: Endocrine System." CANCER JOURNAL. Vol. 18, no. 4. (July 2012.): 364-371.

Daniels,Molly,S; Rich,Thereasa; Weissman,Scott; Pilarski,Robert. "Lifetime Cancer Risks of PTEN Mutation Carriers-Letter." CLINICAL CANCER RESEARCH. Vol. 18, no. 15. (August 2012.): 4213-4213.

Pilarski,Robert; Patel,Divya,A; Weitzel,Jeffrey; McVeigh,Terri; Dorairaj,Jemima,J; Heneghan,Helen,M; Miller,Nicola; Weidhaas,Joanne,B; Kerin,Michael,J; McKenna,Megan; Wu,Xifeng; Hildebrandt,Michelle; Zelterman,Daniel; Sand,Sharon; Shulman,Lee,P. "The KRAS-Variant Is Associated with Risk of Developing Double Primary Breast and Ovarian Cancer." PLOS ONE. Vol. 7, no. 5. (May 2012.): e37891-.

Gammon,A; Jasperson,K; Pilarski,R; Prior,T,W; Kuwada,S. "PTEN mosaicism with features of Cowden syndrome." CLINICAL GENETICS. Vol. 84, no. 6. (December 2013.): 593-595.

Pilarski,Robert; Burt,Randall; Kohlman,Wendy; Pho,Lana; Shannon,Kristen,M; Swisher,Elizabeth. "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria." JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. Vol. 105, no. 21. (November 2013.): 1607-1616.

Meyer,Kerstin,B; O'Reilly,Martin; Michailidou,Kyriaki; Carlebur,Saskia; Edwards,Stacey,L; French,Juliet,D; Prathalingham,Radhika; Dennis,Joe; Bolla,Manjeet,K; Wang,Qin; de Santiago,Ines; Hopper,John,L; Tsimiklis,Helen; Apicella,Carmel; Southey,Melissa,C; Schmidt,Marjanka,K; Broeks,Annegien; van't Veer,Laura,J; Hogervorst,Frans,B; Muir,Kenneth; Lophatananon,Artitaya; Stewart-Brown,Sarah; Siriwanarangsan,Pornthep; Fasching,Peter,A; Lux,Michael,P; Ekici,Arif,B; Beckmann,Matthias,W; Peto,Julian; Silva,Isabel,dos Santos; Fletcher,Olivia; Johnson,Nichola; Sawyer,Elinor,J; Tomlinson,Ian; Kerin,Michael,J; Miller,Nicola; Marme,Federick; Schneeweiss,Andreas; Sohn,Christof; Burwinkel,Barbara; Guenel,Pascal; Truong,Therese; Laurent-Puig,Pierre; Menegaux,Florence; Bojesen,Stig,E; Nordestgaard,Borge,G; Nielsen,Sune,F; Flyger,Henrik; Milne,Roger,L; Pilar Zamora,M; Arias,Jose,I; Benitez,Javier; Neuhausen,Susan; Anton-Culver,Hoda; Ziogas,Argyrios; Dur,Christina,C; Brenner,Hermann; Mueller,Heiko; Arndt,Volker; Stegmaier,Christa; Meindl,Alfons; Schmutzler,Rita,K; Engel,Christoph; Ditsch,Nina; Brauch,Hiltrud; Bruening,Thomas; Ko,Yon-Dschun; Nevanlinna,Heli; Muranen,Taru,A; Aittomaeki,Kristiina; Blomqvist,Carl; Matsuo,Keitaro; Ito,Hidemi; Iwata,Hiroji; Yatabe,Yasushi; Doerk,Thilo; Helbig,Sonja; Bogdanova,Natalia,V; Lindblom,Annika; Margolin,Sara; Mannermaa,Arto; Kataja,Vesa; Kosma,Veli-Matti; Hartikainen,Jaana,M; Chenevix-Trench,Georgia; Wu,Anna,H; Tseng,Chiu-Chen; Van Den Berg,David; Stram,Daniel,O; Lambrechts,Diether; Thienpont,Bernard; Christiaens,Marie-Rose; Smeets,Ann; Chang-Claude,Jenny; Rudolph,Anja; Seibold,Petra; Flesch-Janys,Dieter; Radice,Paolo; Peterlongo,Paolo; Bonanni,Bernardo; Bernard,Loris; Couch,Fergus,J; Olson,Janet,E; Wang,Xianshu; Purrington,Kristen; Giles,Graham,G; Severi,Gianluca; Baglietto,Laura; McLean,Catriona; Haiman,Christopher,A; Henderson,Brian,E; Schumacher,Fredrick; Le Marchand,Loic; Simard,Jacques; Goldberg,Mark,S; Labreche,France; Dumont,Martine; Teo,So. "Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1." AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 93, no. 6. (December 2013.): 1046-1060.

Garcia-Closas,Montserrat; Couch,Fergus,J; Lindstrom,Sara et al.. "Genome-wide association studies identify four ER negative-specific breast cancer risk loci." NATURE GENETICS. Vol. 45, no. 4. (April 2013.): 392-398.

Jin,Ming; Hampel,Heather; Pilarski,Robert; Zhou,Xiaoping; Peters,Sara; Frankel,Wendy,L. "Phosphatase and Tensin Homolog Immunohistochemical Staining and Clinical Criteria for Cowden Syndrome in Patients With Trichilemmoma or Associated Lesions." AMERICAN JOURNAL OF DERMATOPATHOLOGY. Vol. 35, no. 6. (August 2013.): 637-640.

Stanich,Peter,P; Meyer,Marty,M; Pilarski,Robert. "Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol." AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 164, no. 7. (July 2014.): 1870-1870.

Purrington,Kristen,S; Slager,Susan; Eccles,Diana; Yannoukakos,Drakoulis; Fasching,Peter,A; Miron,Penelope; Carpenter,Jane; Chang-Claude,Jenny; Martin,Nicholas,G; Montgomery,Grant,W; Kristensen,Vessela; Anton-Culver,Hoda; Goodfellow,Paul; Tapper,William,J; Rafiq,Sajjad; Gerty,Susan,M; Durcan,Lorraine; Konstantopoulou,Irene; Fostira,Florentia; Vratimos,Athanassios; Apostolou,Paraskevi; Konstanta,Irene; Kotoula,Vassiliki; Lakis,Sotiris; Dimopoulos,Meletios,A; Skarlos,Dimosthenis; Pectasides,Dimitrios; Fountzilas,George; Beckmann,Matthias,W; Hein,Alexander; Ruebner,Matthias; Ekici,Arif,B; Hartmann,Arndt; Schulz-Wendtland,Ruediger; Renner,Stefan,P; Janni,Wolfgang; Rack,Brigitte; Scholz,Christoph; Neugebauer,Julia; Andergassen,Ulrich; Lux,Michael,P; Haeberle,Lothar; Clarke,Christine; Pathmanathan,Nirmala; Rudolph,Anja; Flesch-Janys,Dieter; Nickels,Stefan; Olson,Janet,E; Ingle,James,N; Olswold,Curtis; Slettedahl,Seth; Eckel-Passow,Jeanette,E; Anderson,S,Keith; Visscher,Daniel,W; Cafourek,Victoria,L; Sicotte,Hugues; Prodduturi,Naresh; Weiderpass,Elisabete; Bernstein,Leslie; Ziogas,Argyrios; Ivanovich,Jennifer; Giles,Graham,G; Baglietto,Laura; Southey,Melissa; Kosma,Veli-Matti; Fischer,Hans-Peter; Reed,Malcom,WR; Cross,Simon,S; Deming-Halverson,Sandra; Shrubsole,Martha; Cai,Qiuyin; Shu,Xiao-Ou; Daly,Mary; Weaver,JoEllen; Ross,Eric; Klemp,Jennifer; Sharma,Priyanka; Torres,Diana; Rudiger,Thomas; Wolfing,Heidrun; Ulmer,Hans-Ulrich; Forsti,Asta; Khoury,Thaer; Kumar,Shicha; Pilarski,Robert; Shapiro,Charles,L; Greco,Dario; Heikkila,Paivi; Aittomaki,Kristiina; Blomqvist,Carl; Irwanto,Astrid; Liu,Jianjun; Pankratz,Vernon,Shane; Wang,Xianshu; Severi,Gianluca; Mannermaa,Arto; Easton,Douglas; Hall,Per; Brauch,Hiltrud; Cox,Angela; Zheng,Wei; Godwin,Andrew,K; Hamann,Ute; Ambrosone,Christine; Toland,Amanda,Ewart; Nevanlinna,Heli; Vachon,Celine,M; Couch,Fergus,J. "Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer." CARCINOGENESIS. Vol. 35, no. 5. (May 2014.): 1012-1019.

Pilarski,Robert; Burt,Randall; Kohlman,Wendy; Pho,Lana; Shannon,Kristen,M; Swisher,Elizabeth. "RE: Cowden Syndrome and PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria Response." JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. Vol. 106, no. 6. (June 2014.): dju131-.

Stanich,Peter,P; Pilarski,Robert; Rock,Jonathan; Frankel,Wendy,L; El-Dika,Samer; Meyer,Marty,M. "Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review." WORLD JOURNAL OF GASTROENTEROLOGY. Vol. 20, no. 7. (February 2014.): 1833-1838.

Stanich,Peter,P; Meyer,Marty,M; Pilarski,Robert. "Correspondence regarding: PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.." American journal of medical genetics. Part A. Vol. 164A, no. 7. (July 2014.): 1870-?.

Hall,Michael,J; Forman,Andrea,D; Pilarski,Robert; Wiesner,Georgia; Giri,Veda,N. "Gene Panel Testing for Inherited Cancer Risk." JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK. Vol. 12, no. 9. (September 2014.): 1339-1346.

Daly,Mary,B; Pilarski,Robert; Axilbund,Jennifer,E; Buys,Saundra,S; Crawford,Beth; Friedman,Susan; Garber,Judy,E; Horton,Carolyn; Kaklamani,Virginia; Klein,Catherine; Kohlmann,Wendy; Kurian,Allison; Litton,Jennifer; Madlensky,Lisa; Marcom,P,Kelly; Merajver,Sofia,D; Offit,Kenneth; Pal,Tuya; Pasche,Boris; Reiser,Gwen; Shannon,Kristen,Mahoney; Swisher,Elizabeth; Voian,Nicoleta,C; Weitzel,Jeffrey,N; Whelan,Alison; Wiesner,Georgia,L; Dwyer,Mary,A; Kumar,Rashmi. "Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014." JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK. Vol. 12, no. 9. (September 2014.): 1326-1338.

Pilarski, RT. "Genetics of PTEN Hamartoma Tumour Syndrome." eLS. Vol. 1, (July 2014.): -.

King-Spohn, K; Pilarski, RT. "Beyond BRCA1 and BRCA2." Current Problems in Cancer. Vol. 38, no. 6. (November 2014.): 235-248.

Pilarski,Robert; Cebulla,Colleen,M; Massengill,James,B; Rai,Karan; Rich,Thereasa; Strong,Louise; McGillivray,Barbara; Asrat,Mary-Jill; Davidorf,Frederick,H; Abdel-Rahman,Mohamed,H. "Expanding the Clinical Phenotype of Hereditary BAP1 Cancer Predisposition Syndrome, Reporting Three New Cases." GENES CHROMOSOMES & CANCER. Vol. 53, no. 2. (February 2014.): 177-182.

Reinbolt, R; Patel, R; Pan, X; et al.. "Risk factors for anthracycline-associated cardiotoxicity." Supportive Care in Cancer. Vol. ePub, (November 2015.): 1-7.

McVeigh,Terri,P; Jung,Song-Yi; Kerin,Michael,J; Salzman,David,W; Nallur,Sunitha; Nemec,Antonio,A; Dookwah,Michelle; Sadofsky,Jackie; Paranjape,Trupti; Kelly,Olivia; Chan,Elcie; Miller,Nicola; Sweeney,Karl,J; Zelterman,Daniel; Sweasy,Joann; Pilarski,Robert; Telesca,Donatello; Slack,Frank,J; Weidhaas,Joanne,B. "Estrogen withdrawal, increased breast cancer risk and the KRAS-variant." CELL CYCLE. Vol. 14, no. 13. (July 2015.): 2091-2099.

Cebulla,Colleen,M; Binkley,Elaine,M; Pilarski,Robert; Massengill,James,B; Rai,Karan; Liebner,David,A; Marino,Meghan,J; Singh,Arun,D; Abdel-Rahman,Mohamed,H. "Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients." OPHTHALMIC GENETICS. Vol. 36, no. 2. (June 2015.): 126-131.

Briercheck,Edward,L; Trotta,Rossana; Chen,Li; Hartlage,Alex,S; Cole,Jordan,P; Cole,Tyler,D; Mao,Charlene; Banerjee,Pinaki,P; Hsu,Hsiang-Ting; Mace,Emily,M; Ciarlariello,David; Mundy-Bosse,Bethany,L; Garcia-Cao,Isabel; Scoville,Steven,D; Yu,Lianbo; Pilarski,Robert; Carson,William,E; Leone,Gustavo; Pandolfi,Pier,Paolo; Yu,Jianhua; Orange,Jordan,S; Caligiuri,Michael,A. "PTEN Is a Negative Regulator of NK Cell Cytolytic Function." JOURNAL OF IMMUNOLOGY. Vol. 194, no. 4. (February 2015.): 1832-1840.

Rai, K; Pilarski, RT; Cebulla, CM; Abdel-Rahman, MH. "Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases." Clinical Genetics. Vol. [Epub ahead of print], (June 2015.): -.

Caserta, E; Egriboz, O; Wang, H; et al.. "Non-catalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo." Genes and Development. Vol. 29, (August 2015.): 1707-1720.

Couch,Fergus,J; Hart,Steven,N; Sharma,Priyanka; Toland,Amanda,Ewart; Wang,Xianshu; Miron,Penelope; Olson,Janet,E; Godwin,Andrew,K; Pankratz,V,Shane; Olswold,Curtis; Slettedahl,Seth; Hallberg,Emily; Guidugli,Lucia; Davila,Jaime,I; Beckmann,Matthias,W; Janni,Wolfgang; Rack,Brigitte; Ekici,Arif,B; Slamon,Dennis,J; Konstantopoulou,Irene; Fostira,Florentia; Vratimos,Athanassios; Fountzilas,George; Pelttari,Liisa,M; Tapper,William,J; Durcan,Lorraine; Cross,Simon,S; Pilarski,Robert; Shapiro,Charles,L; Klemp,Jennifer; Yao,Song; Garber,Judy; Cox,Angela; Brauch,Hiltrud; Ambrosone,Christine; Nevanlinna,Heli; Yannoukakos,Drakoulis; Slager,Susan,L; Vachon,Celine,M; Eccles,Diana,M; Fasching,Peter,A. "Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer." JOURNAL OF CLINICAL ONCOLOGY. Vol. 33, no. 4. (February 2015.): 304-U154.

Abdel-Rahman, M; Rai, K; Pilarski, R; et al.. "Germline BAP1 mutations misreported as somatic based on tumor-only testing." Familial Cancer. Vol. ePub, (January 2016.): 1-4.

Daly, MB; Pilarski, R; Axilbund, J; et al.. "Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015. Featured Updates to the NCCN Guidelines." Journal of the National Comprehensive Cancer Network. Vol. 14, no. 2. (February 2016.): 153-162.

 

Reference Works

October 2006 Pilarski R, Stephens J, Hampel H, Zhou XP, Eng C.."Gender-related clinical features in a large cohort of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) patients with PTEN mutations" New Orleans.
October 2006 Pezzolesi M, Li Y, Zhou XP, Pilarski R, Shen L, Eng C.."Mutation positive and mutation negative Cowden and Bannayan-Riley-Ruvalcaba syndrome patients and normal controls defined by distinct 10q haplotypes" New Orleans.
November 2008 Abdel-Rahman, M., Pilarski, R., Ezzat, S., LaJeunesse, J., Davidorf, F.."Hereditary cancer predisposition in a subset of uveal melanoma patients and their family members" Philadelphia.
October 2012 Jin, M; Hampel, H; Pilarski, RT; et al.."Jin, M; Hampel, H; Pilarski, RT; et al., Poster Presenter. "PTEN Immunohistochemical Staining and Clinical Criteria for Cowden Syndrome in Patients with Trichilemmoma" Boston.
November 2012 Pilarski, RT; Cebulla, CM; Rich, T; et al.."Germline BAP1 mutation – Additional case report and expanding clinical phenotype" San Francisco.
September 2013 Abdel-Rahman, MH; Pilarski, RT; Davidorf, FH; et al.."Hereditary predisposition to uveal melanoma, not just BAP1" Cleveland.
May 2013 Stanich, PP; Rock, J; Frankel, WL; et al.."PTEN harmartoma tumor syndrome: endoscopic findings and gastrointestinal pathology" Orland.
September 2013 Cebulla, CM; Pilarski, RT; Davidorf, FH; et al.."BAP1 Hereditary Cancer Syndrome Update" Beverly Hills.
October 2013 Pilarski, RT; Cebulla, CM; Saqr, OH; et al.."Germline BAP1 mutations in uveal melanoma patients with a personal or family history of renal cell carcinoma" Boston.
June 2014 Reinbolt, RE; Patel, R; Pan, XJ; et al.."Risk factors for anthracycline-associated cardiotoxicity" Chicago.
June 2014 Miller, KP; Pan, XJ; Timmers, CD; et al.."Clinical and genetic risk factors for AI-induced arthralgia" Chicago.
October 2014 Pilarski, RT; Boru, G; Saqr, OH; et al.."Germline epigenetic inactivation of BAP1 in a subset of patients with uveal melanoma" San Diego.
October 2014 Cebulla, CM; Pilarski, RT; Rai, K; et al.."Two novel germline BAP1 mutations in two unrelated families with features of the BAP1 Tumor Predisposition Syndrome" San Diego.
October 2014 Abdel-Rahman, MH; Hedges, D; Pilarski, RT; et al.."Whole exome sequencing to identify novel candidates for hereditary predisposition to UM" San Diego.
September 2014 Stanich, PP; Pilarski, RT; Wenzke, J; et al.."Coleorectal Cancer and Hamartoma Syndromes: Surgical Procedures and Outcomes" New Orleans.
September 2015 Reinbolt, R; Pan, XJ; Wandell, KK; et al.."Impact of breast cancer treatment on body mass index (BMI) over time" San Francisco.
October 2015 Stanich, PP; Noffsinger, A; Pilarski, RT; et al.."Prevalence of Cowden syndrome and gastrointestinal pathology suspicious for Cowden syndrome: Analysis of a national pathology database" Baltimore.
June 2015 Cebulla, CM; Rai, K; Pilarski, RT; et al.."Comprehensive Review of the BAP1 Tumor Predisposition Syndrome with Report of Two New Cases" Paris.

Presentations

"Carrier Screening for Cystic Fibrosis in Primary Care Settings." Presented at National Society of Genetic Counselors Education Conference, San Francisco. (October 1992)

"Developing a Role for Genetic Counseling Within a Cancer Clinic Program." Presented at National Society of Genetic Counselors Education Conference, Atlants. (October 1993)

"Hemolytic anemia in Gaucher disease." Presented at American Society of Hemotology Annual Meeting, Nashville. (December 1994)

"Developing a Role for Genetics Within a Cancer Program." Presented at First International Conference on Cancer Prevention, New York. (September 1994)

"Establishing a Disease-Specific Clinic." Presented at National Society of Genetic Counselors Annual Education Conference, Minneapolis. (October 1995)

"Triad Approach for Detection of Cystic Fibrosis in a Neonatal Screening Program: Identification of an Infant Homozygous for the 2789+5G-A Mutation.." Presented at 12th National Newborn Screening Symposium, Boston. (October 1996)

"Newborn Screening for Cystic Fibrosis in CT: Three Years Experience." Presented at New England Regional Genetics Group Meeting, Durham. (December 1996)

"Attenuated Familial Adenomatous Polyposis in an Adult with an Interstitial Deletion of Chromosome 5q." Presented at National Society of Genetic Counselors Education Conference and American Society of Human Genetics Annual Meeting, San Francisco. (October 1998)

"Current Approaches to Hereditary Cancer Risk Assessment and Management." Presented at American Society of Human Genetics Annual Meeting, San Francisco. (October 1999)

"Tools of the Trade: The Process of Gereditary Cancer Risk Assessment." Presented at National Society of Genetic Counselors Education Conference, Oakland. (October 1999)

"Segregation of Two von Hippel-Lindau (VHL) Gene Mutations in the Same Family.." Presented at Annual Education Conference, Washington, DC. (November 2001)

"Germline PTEN deletions cause a subset of classic Cowden syndrome and Bannayan-Riley-Ruvalcaba syndromes.." Presented at Annual Scientific Meeting, Baltimore, MD. (October 2002)

"Diagnostic testing for mutations in the PTEN gene using direct sequencing.." Presented at Annual Scientific Meeting, Baltimore, MD. (October 2002)

"Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the PI-3-Kinase/Akt Pathway.." Presented at Annual Scientific Meeting, Los Angeles, CA. (November 2003)

"No PTEN protein and altered downstream signaling due to heterozygous germline PTEN mutations in Cowden syndrome.." Presented at Annual Scientific Meeting, Los Angeles, CA. (November 2003)

"Lower cancer incidence rates in Ohio Amish.." Presented at American Society of Human Genetics Annual Meeting, Los Angeles. (November 2003)

"Germline mutations in NEP and RASA1 are associated with a subset of patients with Cowden/Bannayan-Riley-Ruvalcaba syndrome.." Presented at Annual Scientific Meeting, Toronto, ON. (October 2004)

"Molecular classification of gastrointestinal hamartomatous polyposis as a diagnostic adjunct to genetic counseling.." Presented at Annual Scientific Meeting, Toronto, ON. (October 2004)

"Genetic testing for large germline deletions should be a clinical routine: SDHD and SDHB deletions as novel etiologies for heritable pehochromocytoma/paraganglioma syndrome.." Presented at Annual Scientific Meeting, Toronto, ON. (October 2004)

"Subset of individuals with autism and macrocephaly associated with germline PTEN tumor suppressor gene mutations.." Presented at American Society of Human Genetics Annual Meeting, Toronto. (October 2004)

"The Expanding Clinical Spectrum of the PTEN Hamartoma Tumor Syndrome (PHTS).." Presented at Region IV Conference, Chicago, IL. (April 2005)

"Mutation Screening in Juvenile Polyposis syndrome.." Presented at Annual Scientific Meeting, Salt Lake City, UT. (October 2005)

"Different causes and outcomes of splicing defects in PTEN.." Presented at Annual Scientific Meeting, Salt Lake City, UT. (October 2005)

"Gender-related clinical features in a large cohort of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) patients with PTEN mutations.." Presented at Annual Scientific Meeting, New Orleans, LA. (October 2006)

"Mutation positive and mutation negative Cowden and Bannayan-Riley-Ruvalcaba syndrome patients and normal controls defined by distinct 10q haplotypes.." Presented at Annual Scientific Meeting, New Orleans, LA. (October 2006)

"Big Heads, bumpy skin, and benign thyroid disease – When should you consider PTEN gene testing?." Presented at Annual Education Conference, Los Angeles, CA. (October 2008)

"Hereditary cancer predisposition in a subset of uveal melanoma patients and their family members.." Presented at Annual Scientific Meeting, Philadelphia, PA. (November 2008)

"Mutation screening strategies and testing for non-BRCA1/2 breast cancer genes as a clinical service – What should we be offering?." Presented at Third International Symposium on Hereditary Breast and Ovarian Cancer, Montreal, CA|CAN. (October 2009)

"Cowden syndrome: Diagnostic criteria in transition?." Presented at National Society of Genetic Counselors Annual Education Conference, Dallas. (October 2010)

"Multidisciplinary approach to the ongoing care of BRCA mutation carriers." Presented at Care of Families with Hereditary Risk of Breast and Ovarian Cancer Conference, Indianapolis. (September 2011)

"Genetics of Hematology Cancers." Presented at Leukemia and Lymphoma Society Conference, Columbus. (April 2011)

"Familial Adenomatous Polyposis." Presented at Nationwide Children’s Hospital, Columbus. (June 2011)

"Helping your Patients Share Test Results with Relatives." Presented at National Society of Genetic Counselors Webinar, . (July 2012)

"BAP1 Hereditary Cancer Predisposition Syndrome." Presented at BC Cancer Agency Rounds, Vancouver. (May 2013)

"Diversity Issues in Genetic Counseling." Presented at NHGRI GC Training Program, Washington D.C., DC, US|USA. (November 2015)

"BAP1 Tumor Predisposition Syndrome." Presented at ICARE Webinar, OH, US|USA. (November 2015)

"BAP1 Tumor Predisposition Syndrome." Presented at NCI Invited Presentation, Washington D.C., DC, US|USA. (November 2015)

 

Professional Activities

2005 - present Ohio Department of Health Human Cancer Genetics Network.
2009 - present Genetic/Familial High Risk Assessment: Breast and Ovarian Guidelines review panel. National Comprehensive Cancer Network.
2013 - present Genetic/Familial High Risk Assessment Practice Guidelines, Cowden syndrome review subcommittee. National Comprehensive Cancer Network.
2014 - present Community Profile Advisory Board. Komen Columbus.
2016 - present BAP1 Expert Panel Working Group. ClinVar.
1998 - 2004 Ad Hoc Grant Reviewer. Ethical, Legal and Social Implications Research Program.
 

Technical Reports

Pilarski, R; Hampel, H; Eng, C. PTEN Hamartoma Tumor Syndrome (PHTS)in: GeneReviews at GeneTests: Medical Genetics Information Resource. : (January 1998).