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2001 Polaris Pkwy
Columbus, OH 43240

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. 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.

Academic Advising

2012 - present Karan Rai, The Ohio State University. Graduated 2015. Comprehensive Review of BAP1 Tumor Predisposition Syndrome
2014 - present Christopher Heinlen, The Ohio State University. Graduated 2015.
 

Certifications

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 DeVita, Hellman, and Rosenberg’s CANCER: Principles and Practice of Oncology. -. Philadelphia: Wolters Kluwer/Lippincott Williams and Wilkins, December 2014.

 

Degrees

1980 B.S., Michigan State University

1984 M.S., University of Wisconsin

2010 M.S.W., The Ohio State University

 

Editorial Activities

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
 

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; 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; 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; 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.

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.

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.): -.

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.

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.

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.

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.

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.

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.

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.

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.

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. Vol. 48, no. 12. (December 2011.): 856-859.

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-.

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; 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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. -.

 

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, GA. (October 1993)

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

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

"Establishing a Disease-Specific Clinic." Presented at National Society of Genetic Counselors Annual Education Conference, Minneapolis, MN. (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, MA. (October 1996)

"Newborn Screening for Cystic Fibrosis in CT: Three Years Experience." Presented at New England Regional Genetics Group Meeting, Durham, NH. (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, CA. (October 1998)

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

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

"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)

"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)

"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 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)

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

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

"Breast and Ovarian Cancer Genetic Risk." Presented at Women on Wellness Conference, Chillicothe, OH. (May 2011)

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

"Germline BAP1 mutation – Additional case report and expanding clinical phenotype (Abstract #1197)." Presented at American Society of Human Genetics Annual Meeting, San Francisco, CA. (November 2012)

"PTEN Immunohistochemical Staining and Clinical Criteria for Cowden Syndrome in Patients with Trichilemmoma." Presented at American Society of Clinical Pathology Annual Meeting, Boston, MA. (October 2012)

"Candidate Gene Testing in Uveal Melanoma patients with Relative High Risk for Hereditary Cancer." Presented at Association for Research in Vision and Ophthalmology Annual Meeting, Ft. Lauderdale, FL. (May 2012)

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

"Update on Genetic Testing for Breast Cancer." Presented at OSUMC Hematology/Ocology Medical Staff Meeting, Columbus, OH. (August 2012)

"OSU JamesCare for Life Breast Cancer." Presented at OSU JamesCare for Life Breast Cancer Conference, Columbus, OH. (October 2012)

"PTEN harmartoma tumor syndrome: endoscopic findings and gastrointestinal pathology." Presented at Digestive Disease Week, Orlando, FL. (May 2013)

"BAP1 Hereditary Cancer Syndrome Update." Presented at 46th Annual Retinal Society Meeting, Beverly Hills, CA. (September 2013)

"Hereditary predisposition to uveal melanoma, not just BAP1." Presented at International Society of Ocular Oncology, Cleveland, OH. (September 2013)

"Germline BAP1 mutations in uveal melanoma patients with a personal or family history of renal cell carcinoma." Presented at American Society of Human Genetics Annual Meeting, Boston, MA. (October 2013)

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

"Conflict and Controversy in Genetic Research." Presented at Undergraduate Research Office Faculty Panel, Columbus, OH. (January 2013)

"Genetic Counselor Meet-n-Greet." Presented at Genetic Counselor Meet-n-Greet, Columbus, OH. (February 2013)

"OSU JamesCare for Life Breast Cancer." Presented at OSU JamesCare for Life Breast Cancer Conference, Columbus, OH. (October 2013)

"Genetics." Presented at OSU Cancer Survivor’s Day, Columbus, OH. (October 2013)

"HBOC Issues for Men." Presented at OSU Beyond Risk Conference, Columbus, OH. (April 2013)

"Ethical Issues in Genetics." Presented at OSU “Tools of the Trade” Conference, Columbus, OH. (April 2013)

"Two novel germline BAP1 mutations in two unrelated families with features of the BAP1 Tumor Predisposition Syndrome." Presented at American Society of Human Genetics Annual Meeting, San Diego, CA. (October 2014)

"Whole exome sequencing to identify novel candidates for hereditary predisposition to UM." Presented at American Society of Human Genetics Annual Meeting, San Diego, CA. (October 2014)

"Collaborative Group of the Americas on Inherited Colorectal Cancer Annual Meeting." Presented at Collaborative Group of the Americas on Inherited Colorectal Cancer Annual Meeting, New Orleans, LA. (September 2014)

"Risk factors for anthracycline-associated cardiotoxicity." Presented at American Society of Clinical Oncology Annual Meeting, Chicago, IL. (June 2014)

"Clinical and genetic risk factors for AI-induced arthralgia." Presented at American Society of Clinical Oncology Annual Meeting, Chicago, IL. (June 2014)

"Germline epigenetic inactivation of BAP1 in a subset of patients with uveal melanoma." Presented at American Society of Human Genetics Annual Meeting, San Diego, CA. (October 2014)

"Lack of BAP1 germline gene mutation in patients with early onset uveal melanoma." Presented at Association for Research in Vision and Ophthalmology Annual Meeting, Orlando, FL. (May 2014)

"FORCE." Presented at FORCE Meeting, Columbus, OH. (September 2014)

"Genomic Medicine." Presented at Genomic Medicine, Columbus, OH. (February 2014)

"Prevalence of Cowden syndrome and gastrointestinal pathology suspicious for Cowden syndrome: Analysis of a national pathology database." Presented at 19th Annual Meeting Collaborative Group of the Americas on Inherited Colorectal Cancer, Baltimore, MD. (October 2015)

"Comprehensive Review of the BAP1 Tumor Predisposition Syndrome with Report of Two New Cases." Presented at International Society of Ocular Oncology Biennual Meeting, Paris, FR|FRA. (June 2015)

"Impact of breast cancer treatment on body mass index (BMI) over time." Presented at Breast Cancer Symposium, San Francisco, CA. (September 2015)

"Update on Hereditary Breast and Ovarian Cancer." Presented at Beyond Risk Conference, Columbus, OH. (April 2015)

"Update on PTEN and Cowden Syndrome." Presented at Cowden syndrome Patient Conference, Columbus, OH. (May 2015)

"Hereditary Breast Cancer." Presented at Breast Cancer Support Group, Columbus, OH. (June 2015)

 

Professional Activities

2005 - present Ohio Department of Health Human Cancer Genetics Network.
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.
 

Technical Reports

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