James P Evans | Department of Genetics

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James P Evans, MD, PhD
Associate Professor

Research Interests
Key words: Medical Genetics, Clinical Cancer Genetics, Pharmacogenomics

My major interests lie within the field of clinical cancer genetics. Toward this end I direct the Clinical Cancer Genetics Services at the University of North Carolina. In the Cancer Genetic Clinic we evaluate and counsel patients who are perceived to be at high risk for cancer by virtue of their family history. This comprehensive clinic provides evaluation, counseling and risk assessment through pedigree analysis and genetic testing when appropriate. The clinic has grown substantially since its inception. We now see, on average, approximately 10 patients per week in consultation. We counsel individuals with respect to their risk of cancer and while breast/ovarian cancer comprises the bulk of our activity, we see numerous patients with elevated risk for a great variety of different malignancies. Genetic testing is performed in-house for BRCA1/2. My research interests focus on attitudes towards the use of genetic information and on pharmacogenomics, the study of genetically determined individual response to medications. By defining the genetic underpinnings of drug response one should eventually be able to minimize adverse reactions to medications and improve efficacy. Toward this end we investigate the genetic influences that underlie response to the commonly used anticoagulant, warfarin. Finally, I am heavily involved in the scientific education of high-court judges both internationally and throughout the US.

Publications
1. Plapp FV, Kowalski MM, Tilzer LL, Brown PJ, Evans J, and Chiga M. Partial purification and Rh (D) antigens from Rh positive and negative erythrocytes. Pro. Natl. Acad. Sci. USA. 76:2964-2968, 1979.

2. Plapp FV, Kowalski MM, Evans J, Tilzer LL, and Chiga M. The role of membrane phospholipid in expression of erythrocyte Rh (D) antigen activity. Proc. Soc. Exp. Biol. Med. 164:561-568, 1980.

3. Plapp FV, Evans JP, Tilzer LL. Detection of Rh (D) antigen on the inner surface of Rh negative erythrocyte membranes. Fed Proc. 40:208, 1981.

4. Tilzer LL, Plapp FV, Evans JP, and Chiga M. Different ionic forms of estrogen receptor in rat uterus and human breast carcinoma. Cancer Research. 41:1058-1063, 1981. 5. Tilzer LL, Plapp FV, Evans JP. Steroid receptor proteins in human meningiomas. Cancer. 49:633-636, 1982. 6. Evans JP, Brown PJ, Sinor LT, Tilzer LL, and Plapp FV. Identification of Rh (D) antigen in polyacrylamide gels by an enzyme linked immunoassay. Molecular Immunology. 19(5): 671-675, 1982.

7. Brown PJ, Evans JP, Sinor LT, Tilzer LL, and Plapp FV. The rhesus D antigen is a dicyclohexylacarbodiimide binding proteolipid. Am. J. Pathol. 110(2): 127-134, 1983. 8. Evans JP, Brown PJ, Sinor LT, Beek MLO, and Plapp FV. Detection of a protein on the inner surface of Rh negative erythorocytes which binds anti-D IgG. Molecular Immunology. 20(5):529-536, 1983.

9. Sinor LP, Brown PJ, Evans JP, and Plapp LV. The Rh antigen specificity of erythrocyte proteolipid. Transfusion. 24(2): 179-180, 1984.

10. Evans JP, Watzke HW, Ware JL, Stafford DW, High KA. Molecular cloning of a cDNA encoding canine factor IX. Blood. 74:207-212, 1989.

11. Evans JP, Brinkhous KM, Reisner H, Brayer GD, and High KA. A point mutation in canine hemophilia B with unusual consequences. Proc. Natl. Acd. Sci. USA. 86:10095-10099, 1989.

12. Evans JP, and Palmiter RD. Retrotransposition of a mouse L1 element. Proc. Natl. Acad. Sci. USA. 88:8792, 1991.

13. Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stevens K, Pagon RA, Patton MA, Berg MA, Donlon T, Rivera H, Pfeiffer RA, Naritomi K, Hughes H, Genuardi M, Gurrieri F, Neri G, Lovrein E, Magenis E, Tsui L-C, and Evans JP. Fine mapping of the Autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-a22. American Journal of Human Genetics. 55:12-20, 1994.

14. Palmer SE, Scherer S, Kukolich M, Wijsman EM, Tsui L-C, Stephens K, and Evans JP. Evidence for locus heterogeneity in autosomal dominant split hand/split foot malformation. American Journal of Human Genetics. 55:21-26, 1994.

15. Scherer S, Poorkaj P, Geshuri D, Nunes M, Geneuardi M, Tsui L-C, and Evans JP. Physical mapping of the human split hand/ split foot (SHSF) locus on chromosomes 7 reveals a relationship between SPSF and the syndromic ectrodactylies. Human Molecular Genetics. 3:1345-1354, 1994.

16. Nunes M, Pagon R, Disteche CJ, and Evans JP. A contiguous gene deletion syndrome at human 7q21- q22 and implications for the relationship between isolated ectrodactyly and syndromic ectrodactyly. Clinical Dysmorphology. 3:277-286, 1994.

17. Jarvik GP, Patton MA, Homfray T, and Evans JP. Segregation distortion in a human developmental disorder: split hand/ split foot malformation. Am. J. Hum. Genet. 55:710-713, 1994.

18. Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Shewartz CE. Split foot and developmental retardation associated with a deletion of three microsatellite makers in 7q21-q22.1. Clinical Genetics. 47:90-95, 1995.

19. Steiner RD, Evans JP, Uemichi T, Paunio T, and Benson MD. Familial amyloidosis, Finish type, in three generations of a Swedish-American family is caused by asparaginase substitution for aspartic acid at gelson residue 187. Human Genetics. 95:327-330, 1995.

20. Evans JP, Burke W, Chen R, Bennett R, Schmidt R, Dellinger EP, Kimmey M, Crispin D, Brentnall TA, and Byrd DA. Familial pancreatic adenocarcinoma: association with diabetics and exocrine insufficiency and early molecular diagnosis. Journal of Medical Genetics. 32:330-335, 1995.

21. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Human Molecular Genetics. 5(5): 571-9, 1996 May.

22. Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Human Molecular Genetics. 4(11): 2165-70, 1995 Nov.

23. Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC. Assignment of the human homolog of mouse D1x3 to chromosome 17q21.3-q22 by analysis of somatic cells hybrids and fluorescence in situ hybridization. Mammalian Genome. 6(4):310-1, 1995 Apr.

24. Brentnall TA, Rubin CE, Crispin DA, Stevens A, Batchelor RH, Haggitt RC, Bronner MP, Evans JP, McCahill LE, Bilir N, et al. A germline substitution in the human MSH2 gene is associated with high- grade dysplasia and cancer in ulcerative colitis. Gastroenterology. 109(1):151-5, 1995 Jul.

25. Evans JP. Genomics: Delayed Reaction. Hospitals and Health Networks, 74 (12):42-44. 2000.

26. Hadler N & Evans JP. Medicalization of the Genome. Commentary in Current Anthropology. In press.

27. Evans JP, Skrzynia C, Burke W. The spectrum of utility in genetic testing. British Medical Journal. 322: 1052-1056. 2001

28. Finkler K, Skrzynia C, Evans JP. The new genetics and its consequences for family, kinship, medicine, and medical genetics. Social Science and Medicine; 57(3): 403-412. 2003

29. Li T, Lange LA, Li X, Susswein L, Bryant B, Malone R, Lange E, Huang T-Y, Stafford D and Evans JP. Polymorphisms in the VKOR gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation. In press, Journal of Medical Genetics, April 2006.

Contact Information
4200A MBRB, CB# 7264
Chapel Hill, NC 27599-7264
Office: 919.966.2007

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