2001 Polaris Pkwy
Columbus, OH 43240
Phone: (614) 293-7774
Associate Professor-Clinical, Human Genetics
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. 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 coordinator of the Columbus Breast Cancer Tissue Bank (Charles Shapiro, 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 participated 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. And finally, he coordinates Uveal Melanoma genetic research studies in collaboration with Drs. Frederick Davidorf and Mohamed Abdel-Rahman in the Department of Ophthalmology. 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. Mr. Pilarski obtained Master of Social Work degree in 2010 while retaining his full time employment in the Division of Human Genetics. He intends to use his training as a therapist to work longer term with patients with hereditary diseases, within the Division of Human Genetics and the Comprehensive Cancer Center.
|1987 - present||Certified Genetic Counselor: American Board of Medical Genetics|
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.
|1980||B.S., Michigan State University|
|1984||M.S., University of Wisconsin|
|2010||M.S.W., The Ohio State University|
|2001 - 2009||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|
|2012 - present||Saudi Medical Journal|
|2012 - present||Journal of Medical Case Reports|
|2012 - present||Clinical Genetics|
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.): -.
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.): -.
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.): -.
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.): -.
Pilarski, R; Greenstein, R M. "Cancer gene testing?." Connecticut medicine. Vol. 62, no. 4. (January 1998.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.): -.
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.
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.
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.
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.
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,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.
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.
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.
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. (January 2011.): -.
"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 Annual Scientific Meeting, Los Angeles, CA. (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)
"Subset of individuals with autism and macrocephaly associated with germline PTEN tumor suppressor gene mutations.." 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)
"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 â€“ 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 â€“ 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 Annual Education Conference, Dallas, TX. (October 2010)
"Phenotypic features and predictors of mutations among 162 patients with PTEN mutations.." Presented at Annual Meeting, Washington, DC. (November 2010)
|2009 - present||Genetic/Familial High Risk Assessment Practice Guidelines, Cowden syndrome review subcommittee. National Comprehensive Cancer Network.|
|2010 - present||Genetic/Familial High Risk Assessment: Breast and Ovarian Guidelines review panel. National Comprehensive Cancer Network.|
|1998 - 2004||Ad Hoc Grant Reviewer. Ethical, Legal and Social Implications Research Program. Washington, DC.|