Licensed Genetic Counselor


PilarskiRobertLicensed Social Worker
Associate Professor-Clinical, Human Genetics

Comprehensive Cancer Center
2012 Kenny Road
Columbus, OH 43221

614-293-6694
Robert.Pilarski@osumc.edu

Licenses:

  • Licensed genetic counselor: State Medical Board of Ohio, (2013 - present)
  • Certified genetic counselor: American Board of Genetic Counseling, (1993 - present)
  • Certified genetic counselor: American Board of Medical Genetics, (1987 - present)
Specialty interests:
  • Clinical cancer genetics
  • Breast cancer tissue bank
  • Psychosocial aspects of hereditary disease
  • Cowden syndrome
  • Uveal melanoma
Clinical interests: 

Rob’s clinical duties include providing comprehensive cancer genetic consultations to individuals and families with a history of cancer. Cancer genetic consultation requires documentation of cancers in the family, risk assessment, screening recommendations and incorporation of genetic testing as necessary. To schedule an appointment, call 614-293-6694 or toll free at 1-888-329-1654.

Research interests:

Rob is trained as a genetic counselor with specialization in clinical cancer genetics. His research interests lie in clinical and translational aspects of cancer genetics.

Rob is the coordinator of a population-based study aiming to accrue women diagnosed with breast cancer to the Columbus Breast Cancer Tissue Bank. Samples and clinical information on patients are stored and made available to researchers investigating the genetic bases of breast cancer. Rob also coordinates a study looking at genetic factors related to the development and progression of uveal melanoma.

Rob has been involved in longterm work looking at the clinical and molecular aspects of conditions due to mutations in the PTEN gene, particularly Cowden syndrome.

In addition, Rob serves as the contact genetic counselor for Ohio State’s Molecular Pathology Laboratory, which offers testing for a number of hereditary cancer syndromes. His role is to handle questions from referring physicians and genetic counselors regarding test requirements, eligibility criteria, results interpretation and similar issues.

Education:

MSW: The Ohio State University, 2010
MS: Medical genetics and genetic counseling, University of Wisconsin, 1984
BS: Zoology, Michigan State University, 1980

Professional activities: 

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



MSW: The Ohio State University, Columbus, Ohio, 2010

Biography

Mr. Pilarski obtained a Bachelor of Science 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 Science in medical genetics and 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. He 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 to 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 a Master of Social Work 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 teach counseling skills and techniques to 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 OSUWMC 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 Ohio State University 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 and 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 and Ovarian Cancer guidelines, and was appointed the first ever vice-chair of the panel in 2013.

Published Works

I have published consistently since my last promotion, with a total of 31 new publications. Of particular 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 

  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 and international diagnostic criteria for PTEN-related disorders.

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

Editorial Activities

Present activities:

  • Journal of Medical Genetics
  • Journal of Genetic Counseling
  • Cancer Treatment Reviews
  • Journal of Clinical Oncology
  • Breast Disease
  • Annals of Vascular Surgery
  • Saudi Medical Journal
  • Clinical Genetics
  • Gynecologic Oncology
  • Journal of Medical Case Reports
  • PLOS ONE
  • Clinical Neuroradiology
  • BMC Cancer
  • Journal of Pediatric Radiology
  • Genetics in Medicine
  • Annals of Internal Medicine
  • BMC Research Notes
  • Application of Clinical Genetics
  • Journal of the National Comprehensive Cancer Network
2016:
  • BMC Case Reports,
  • 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 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

September 2015:

  • Reinbolt, R; Pan, XJ; Wandell, KK; et al.."Impact of breast cancer treatment on body mass index (BMI) over time" San Francisco

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

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
  • 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
  • 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

June 2014:

  • Reinbolt, RE; Patel, R; Pan, XJ; et al.."Risk factors for anthracycline-associated cardiotoxicity" Chicago
  • Miller, KP; Pan, XJ; Timmers, CD; et al.."Clinical and genetic risk factors for AI-induced arthralgia" Chicago
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
September 2013: 
  • Cebulla, CM; Pilarski, RT; Davidorf, FH; et al.."BAP1 Hereditary Cancer Syndrome Update" Beverly Hills
  • 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

November 2012: 

  • Pilarski, RT; Cebulla, CM; Rich, T; et al.."Germline BAP1 mutation – Additional case report and expanding clinical phenotype" San Francisco

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 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 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
  • 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

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)

Technical Reports

Pilarski, R; Hampel, H; Eng, C, "PTEN Hamartoma Tumor Syndrome (PHTS)in: GeneReviews at GeneTests: Medical Genetics Information Resource". (1998) [Unknown] (Published)
Advising

Advising

Undergraduate Advising Narrative

I have served as a research mentor for Karan Rai for four 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 fourth place. In all, Karan has been involved with four 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.

Academic Advisees

2015:
  • Alexandra Suttman, The Ohio State University, Motivations for Males Affected by Hereditary Breast and Ovarian Cancer to Disclose Genetic Health Information,
  • Margaret Stein, The Ohio State University
2014:
  • Kyle Dillahunt, The Ohio State University

2012:

  • Karan Rai, The Ohio State University – graduated 2015, Comprehensive Review of BAP1 Tumor Predisposition Syndrome

Contact

Division of Human Genetics

Amy Ehrlich
Division Administrator
Amy.Ehrlich@osumc.edu
Phone: 614-293-7775
Fax: 614-293-2314

Division’s office:
2012 Kenny Rd. Rm. 250
Columbus, OH 43221

Schedule an appointment: 614-293-6694