University of Utah

Division of Genetic Epidemiology

University of Utah School of Medicine
391 Chipeta Way, Suite D
Salt Lake City, UT 84103

Group Leader

Professor Lisa Cannon Albright, PhD
E-mail:
lisa@genepi.med.utah.edu
Phone: 01 801 587-9300
Fax: 01 801 581-6052

Group Members

Professor Craig Teerlink, PhD – Analysis Group Leader
Jeff Stevens – bioinformaticist
Jim Farnham – biostatistician
Steven Backus – Database Manager
Kim Nguyen – Lab Manager

Research

The Cannon-Albright lab is active in many disease areas, with a major focus on cancer. Using unique and large genealogical databases we explore the genetics of health-related phenotypes.  We study of high-risk pedigrees to identify disease predisposition genes or variants.

We ascertain and recruit high-risk pedigrees identified in the Utah Population Database, or UPDB, which combines computerized genealogies of Utah with statewide medical data (e.g. Utah Cancer Registry from 1966, Utah Death Certificates from 1904, UUHSC diagnosis and procedure coding from 1994). Along with looking for predisposition genes for melanoma, we are active in gene identification efforts for prostate cancer, colon cancer, Ewing sarcoma, pancreas cancer, bladder cancer, diabetes, stroke, alzheimers, longevity, and lung cancer.  We have stored over 35,000 DNAs from informative members of thousands of high-risk pedigrees for many phenotypes. The entire lab is funded almost exclusively by external funding agencies including NIH, DOD, and VHA.

Publications

Cannon-Albright LA, Goldgar DE, Wright EC, Turco A, Jost M, Meyer LJ, Piepkorn M, Zone JJ, Skolnick MH. (1990). Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36. Am J Hum Genet46(5), 912-8.

Ahmed I, Piepkorn M, Goldgar DE, Cannon-Albright LA, Meyer LJ, Skolnick MH, Zone JJ. (1991). HMB-45 staining of dysplastic melanocytic nevi in melanoma risk groups. J Cutan Pathol18(4), 257-60.

Goldgar DE, Cannon-Albright LA, Meyer LJ, Piepkorn MW, Zone JJ, Skolnick MH. (1991). Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds. J Natl Cancer Inst83(23), 1726-33.

Goldgar DE, Cannon-Albright LA, Meyer LJ, Piepkorn MW, Zone JJ, Skolnick MH. (1992). Inheritance of nevus number and size in melanoma/DNS kindreds. Cytogenet Cell Genet59(2-3), 200-2.

Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, et al. (1992). Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science258(5085), 1148-52.

Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gris NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A. MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH, Cannon-Albright LA. (1994). Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet8(1), 23-6.

Skolnick MH, Cannon-Albright LA, Kamb A. (1994). Genetic predisposition to melanoma. Eur J Cancer30A(13), 1991-5.

Cannon-Albright LA, Goldgar DE, Neuhausen S, Gruis NA, Anderson DE, Lewis CM, Jost M, Tran TD, Nguyen K, Kamb A, Weaver-Feldhaus J, Meyer LJ, Zone JJ, Skolnick MH. (1994). Localization of the 9p melanoma susceptibility locus (MLM) to a 2-cM region between D9S736 and D9S171. Genomics23(1), 265-8.

Cannon-Albright LA, Meyer LJ, Goldgar DE, Lewis CM, McWhorter WP, Jost M, Harrison D, Anderson DE, Zone JJ, Skolnick MH. (1994). Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM). Cancer Res54(23), 6041-4.

Cannon-Albright LA, Kamb A, Skolnick M. (1996). A review of inherited predisposition to melanoma. Semin Oncol23(6), 667-72.

Florell SR, Meyer LJ, Boucher KM, Porter-Gill PA, Hart M, Erickson J, Cannon-Albright LA, Pershing LK, Harris RM, Samlowski WE, Zone JJ, Leachman SA. (2004). Longitudinal assessment of the nevus phenotype in a melanoma kindred. J Invest Dermatol123(3), 576-82.

Florell SR, Meyer LJ, Boucher KM, Hart M, Cannon-Albright LA, Harris RM, Grossman D, Samlowski WE, Zone JJ, Brinton JP, Leachman SA. (2005). Nevus distribution in a Utah melanoma kindred with a temperature-sensitive CDKN2A mutation. J Invest Dermatol125(6), 1310-2.

Florell SR, Boucher KM, Garibotti G, Astle J, Kerber R, Mineau G, Wiggins C, Noyes RD, Tsodikov A, Cannon-Albright LA, Zone JJ, Samlowski WE, Leachman SA. (2005). Population-based analysis of prognostic factors and survival in familial melanoma. J Clin Oncol23(28), 7168-77.

Eliason MJ, Larson AA, Florell SR, Zone JJ, Cannon-Albright LA, Samlowski WE, Leachman SA. (2006). Population-based prevalence of CDKN2A mutations in Utah melanoma families. J Invest Dermatol126(3), 660-6.

Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E, Melanoma Genetics Consortium (GenoMEL). (2006). High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res66(20), 9818-28.

Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E, Lund Melanoma Study Group, Melanoma Genetics Consortium (GenoMEL). (2007). Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet44(2), 99-106.

Larson AA, Leachman SA, Eliason MJ, Cannon-Albright LA. (2007). Population-Based Assessment of Non-Melanoma Cancer Risk in Relatives of Cutaneous Melanoma Probands. J Invest Dermatol127(1), 183-8.

Eliason MJ, Hansen CB, Hart M, Porter-Gill P, Chen W, Sturm RA, Bowen G, Florell SR, Harris RM, Cannon-Albright LA, Swinyer L, Leachman SA. (2007). Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. Arch Dermatol143(11), 1409-12.

Florell SR, Meyer LJ, Boucher KM, Grossman D, Cannon-Albright LA, Harris RM, Samlowski WE, Zone JJ, Leachman SA. (2008). Increased Melanocytic Nevi and Nevus Density in a G-34T CDKN2A/p16 Melanoma-Prone Pedigree. J Invest Dermatol128(8), 2122-2125.

Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, Randerson-Moor J, Aitken JF, Avril MF, Azizi E, Bakker B, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Chin-A-Woeng T, Debniak T, Galore-Haskel G, Ghiorzo P, Gut I, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Kanetsky PA, Kefford RF, Landi MT, Lang J, Lubiński J, Mackie R, Malvehy J, Mann GJ, Martin NG, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Puig S, Weiss M, van Workum W, Zelenika D, Brown KM, Goldstein AM, Gillanders EM, Boland A, Galan P, Elder DE, Gruis NA, Hayward NK, Lathrop GM, Barrett JH, Bishop JA. (2009). Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet41(8), 920-5

Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril MF, Azizi E, Bakker B, Bergman W, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Debniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jonsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JA, Bishop DT. (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet43(11), 1108-13.

Teerlink C, Farnham J, Allen-Brady K, Camp NJ, Thomas A, Leachman S, Cannon-Albright L. (2012). A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. Hum Genet131(1), 77-85.

Hawkes JE, Campbell J, Garvin D, Cannon-Albright L, Cassidy P, Leachman SA. (2013). Lack of GNAQ and GNA11 Germ-Line Mutations in Familial Melanoma Pedigrees with Uveal Melanoma or Blue Nevi. Front Oncol3:160.

Hawkes JE, Cassidy PB, Manga P, Boissy RE, Goldgar D, Cannon-Albright L, Florell SR, Leachman SA. (2013). Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. J Dermatol Sci69(1), 30-7.

Taylor NJ, Handorf EA, Mitra N, Avril MF, Azizi E, Bergman W, Bianchi-Scarrà G, Bishop DT, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Friedman E, Gerdes AM, Ghiorzo P, Goldstein AM, Grazziotin TC, Hansson J, Hayward NK, Hocevar M, Höiom V, Holland EA, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer J, Perić B, Pjanova D, Puig S, Schmid H, van der Stoep N, Tucker MA, Wadt KA, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA; GenoMEL Consortium.  Phenotypic and histopathological tumor characteristics according ot CDKN2A mutation status among affected members of melanoma families.  J Invest Dermatol. 2016 Jan 28.

National Cancer Institute, Maryland

Our institution

National Cancer Institute


Our group

American Melanoma Families Group
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd.
Bethesda, MD 20892-7236
USA


The Group leader

Alisa M. Goldstein, Ph.D.
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd.
Bethesda, MD 20892-7236
USA

Tele: 01-301-496-4375
Fax: 01-301-402-4489
Email: goldstea@mail.nih.gov


Our studies of familial melanoma began in the mid 1970’s as a clinical and epidemiologic evaluation of American families with two or more living members with melanoma. The study has evolved over the years to a more formal genetic epidemiologic investigation of families with three or more living members with melanoma. We have examined and followed over 2000 family members, some for over 25 years. We are actively accruing additional families in the U.S. and can be contacted at the above address.

Participants are evaluated either at the NIH Clinical Center or locally by the study team. The research team currently includes genetic epidemiologists, clinicians (physicians and nurses), and laboratory investigators. The major goals of the study are to investigate the genetic and environmental determinants of melanoma in families without known germline mutations; for families with CDKN2A mutations, to study the contribution of other genetic and environmental factors in the expression of disease, to estimate penetrance, and to examine gene-gene and gene-environment interactions.


The names and e-mail addresses of the group members

Principal researchers

Margaret Tucker, MD
tuckerp@mail.nih.gov

Alisa Goldstein, PhD
goldstea@mail.nih.gov

Maria Teresa Landi, MD, PhD
landim@mail.nih.gov

Elizabeth Gillanders, PhD
Elizabeth.Gillanders@nih.gov

Rose Yang
royang@mail.nih.gov

Research Nurse

Mary Fraser
fraserm@mail.nih.gov


Publications

Newton Bishop JA, Harland M, Bennett DC, Bataille V, Goldstein AM, Tucker MA, Ponder BAJ, Cuzick J, Selby P, Bishop DT.
Mutation testing in melanoma families: INK4A, CDK4, and INK4D.
Br J Cancer 1999;80:295-300.

Shennan MG, Badin AC, Walsh S, Summers A, From L, McKenzie M, Goldstein AM, Tucker MA, Hogg D, Lassam N.
Lack of germline CDK6 mutations in familial melanoma.
Oncogene 2000;19:1849-1852.

Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA.
Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.
J Natl Cancer Inst 2000;92:1006-1010.

Harland M, Holland EA, Ghiorzo P, Mantelli M, Bianchi-Scarra G, Goldstein AM, Tucker MA, Ponder BAJ, Mann GJ, Bishop DT, Newton Bishop J.
Mutation screening of the CDKN2A promoter in melanoma families.
Genes Chromosomes Cancer 2000;28:45-57.

Ciotti P, Struewing JP, Mantelli M, Chompret A, Avril MF, Santi PL, Tucker MA, Bianchi-Scarra G*, Bressac-de Paillerets B*, Goldstein AM*.
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.
Am J Hum Genet 2000;67:311-319.

Goldstein AM, Martinez M, Tucker MA, Demenais F.
Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families.
Cancer Epidemiol Biomarkers Prev 2000;9:889-894.

Auroy S, Avril MF, Chompret A, Pham D, Goldstein AM, Bianchi-Scarra G, Frebourg T, Joly P, Spatz SA, Rubino C, Demenais F, French
Hereditary Melanoma Study Group, Bressac-de Paillerets B. Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.
Genes Chromosomes Cancer 2001;32:195-202.

Goldstein AM, Liu L, Shennan MG, Hogg D, Tucker MA, Struewing JP.
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.
Br J Cancer 2001;85:527-530.

Goldstein AM, Tucker MA.
Genetic epidemiology of cutaneous melanoma – A global perspective.
Arch Dermatol 2001;137:1493-1496.

Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, Catricalà C, Torre GD, Folco U, Grammatico P, Padovani L, Pasini B, Rovini D, Queirolo P, Rainero ML, Santi PL, Sertoli RM, Goldstein AM, Società Italiana Dermatologia e Venerologia Gruppo Italiano Studi Epidemiologici in Dermatologia, Bianchi-Scarrà G.
High prevalence of the G101W germline mutation in the CDKN2A (P16ink4a) gene in 62 Italian malignant melanoma families.
Am J Med Genet 2002;107:214-221.

Tucker MA, Fraser MC, Goldstein AM, Struewing JP, King MA, Crawford JT, Chiazze EA, Zametkin DP, Fontaine LS, Clark WH, Jr.
A natural history of melanomas and dysplastic nevi: An atlas of lesions in melanoma-prone families.
Cancer 2002;94:3192-3209.

Bishop DT*, Demenais F*, Goldstein AM*, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA, The Melanoma Genetics Consortium.
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
J Natl Cancer Inst 2002;94:894-903.

Feng Y, Shi J, Goldstein AM, Tucker MA, Nelson MA.
Analysis of mutations and identification of several polymorphisms in the putative promoter region of the p34CDC2-related CDC2L1 gene located at 1p36 in melanoma cell lines and melanoma families.
Int J Cancer 2002;99:834-838.

Kefford R, Newton Bishop J, Tucker M, Bressac-de Paillerets B, Bianchi-Scarra G, Bergman W, Goldstein A, Puig S, Mackie R, Elder D, Hansson J, Hayward N, Hogg D, Olsson H, on behalf of the Melanoma Genetics Consortium.
Genetic testing for melanoma.
Lancet Oncol 2002; 3:653-4.

Tucker MA, Goldstein AM.
Melanoma etiology: where are we?
Oncogene 2003;22:3042-3052.

Tucker MA, Fraser MC, Goldstein AM, Struewing JP, King MA, Crawford JT, Chiazze EA, Zametkin DP, Fontaine LS, Clark WH, Jr.
A natural history of melanomas and dysplastic nevi: An atlas of lesions in melanoma-prone families.
Dermatol Nursing 2003;15:237-253.

Massachusetts General Hospital

bostonpictxt

Our institution

Massachusetts General Hospital
55 Fruit Street
Boston, MA 02114; USA


Our group

Massachusetts General Hospital Melanoma Genetics ProgramTitle and address of our group

Hensin Tsao, MD PhD, Director
Department of Dermatology
Bartlett 622
48 Blossom Street
Boston, MA 02114


The Group leader

Hensin Tsao, MD PhD
Director
Department of Dermatology
Massachusetts General Hospital Melanoma Genetics Program
Bartlett 622
48 Blossom Street
Boston, MA 02114

Phone: 617-726-9569
Fax: 617-724-2745
Email: tsao.hensin@mgh.harvard.edu


The Massachusetts General Hospital Pigmented Lesion Center (MGH PLC).
The MGH PLC is the oldest continuously-operational multidisciplinary melanoma group in the United States. Established in 1966 by Dr. Thomas B. Fitzpatrick (Dermatology), Dr. John Raker (Surgery), Dr. Wallace Clark and Dr. Martin C. Mihm (Pathology), the MGH PLC was created to advance understanding of a relatively rare cancer at that time- cutaneous melanoma. The MGH PLC is co-directed by Drs. Arthur J Sober and Hensin Tsao and remains the major center for melanoma patient care for the New England area and the site of active ongoing melanoma research. The MGH PLC shares a seat with many other international melanoma centers on the World Health Organization Melanoma Programme.

As a care center, the MGH PLC evaluates over 200-300 new melanoma patients per year and attends to over 3000 visits. Additional patients are also treated and managed in the medical and surgical oncology units as well as within surgery. As a teaching site, the MGH PLC trains dermatology residents from Harvard Medical School and other rotating residents and students, postgraduate dermatopathology fellows and fully-trained physicians from around the world interested in melanocytic tumors.

The Massachusetts General Hospital Melanoma Genetics Program

In 2000, the MGH Cancer Center initiated a core group of cancer genetics programs dedicated to the research and management of patients with hereditary malignancies. The Melanoma Genetics Program emerged from this initiative and is fully integrated into the MGH PLC. The Melanoma Genetics Program provides genetic counseling services for melanoma patients and coordinates genetics research utilizing the rich patient population. The Melanoma Genetics Program is comprised of Dr. Hensin Tsao, a molecular geneticist researcher and dermatologist, Ms. Lauren Carpiniello, a genetics counselor and Dr. Arthur J. Sober, a melanoma clinical researcher and dermatologist.


Related Links

MGH Center for Cancer Risk Analysis; Melanoma Genetics Program
www.cancer.mgh.harvard.edu/cancer_riskanalysis_clinicalresearch.htm

MGH Melanoma and Pigmented Lesion Center; Melanoma Center
http://www.mgh.harvard.edu/mghdermatology/services/pigmented_lesion_center.htm


The names and e-mail addresses of group members with a description of their contribution

Director

Hensin Tsao, MD, PhD
Molecular geneticist, dermatologist
Email: tsao.hensin@mgh.harvard.edu

Lauren Marie Carpiniello
Senior Genetic Counselor
Email: lcarpiniello@partners.org

Arthur J. Sober, MD
Dermatologist
Email: asober@partners.org


Publications

Tsao H, Sober AJ.
Ultraviolet radiation and malignant melanoma.
Clin Dermatol. 1998 Jan-Feb; 16(1): 67-73. Review.

Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG.
Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene.
Cancer Res. 1998 Jan 1; 58(1): 109-13.

Tsao H, Rogers GS, Sober AJ.
An estimate of the annual direct cost of treating cutaneous melanoma
J Am Acad Dermatol. 1998 May; 38(5 Pt 1): 669-80.

Tsao H, Zhang X, Benoit E, Haluska FG.
Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines.
Oncogene. 1998 Jul 2; 16(26): 3397-402.

Tsao H, Zhang X, Majewski P, Haluska FG.
Mutational and expression analysis of the p73 gene in melanoma cell lines.
Cancer Res 1999; 59: 172-174.

Tsao H, Zhang X, Fowlkes K, Haluska FG.
Relative reciprocity of NRAS and PTEN/MMAC1 alterations in cutaneous melanoma cell lines.
Cancer Res. 2000 Apr 1; 60(7): 1800-4.

Tsao H, Zhang X, Kwitkiwski K, Finkelstein DM, Sober AJ, Haluska FG.
Low prevalence of germline CDKN2A and CDK4 mutations in patients with early onset melanoma.
Arch Dermatol. 2000 Sep; 136(9): 1118-22.

Tsao H. CME
Article: Update on familial cancer syndromes and the skin.
J Am Acad Dermatol 2000; 42: 939-969.

Tsao H, Nadiminti U, Sober AJ, Bigby M.
A meta-analysis of reverse transcriptase-polymerase chain reaction (RT-PCR) for tyrosinase mRNA as a marker for circulating tumor cells in cutaneous melanoma.
Arch Dermatol, 2001; 137:325-330.

Goggins W, Finkelstein D, Tsao H.
Evidence for an association between cutaneous melanoma and non-Hodgkin’s lymphoma.
Cancer, 2001; 91:874-80.

Niendorf KB, Shannon KM. The role of genetic testing and effect on patient care. Arch Dermatol. 2001 Nov;137(11):1515-9. 11. Sober AJ, Chuang TY, Duvic M, Farmer ER, Grichnik JM, Halpern AC, Ho V, Holloway V, Hood AF, Johnson TM, Lowery BJ;
Guidelines/Outcomes Committee. Guidelines of care for primary cutaneous melanoma.
J Am Acad Dermatol. 2001 Oct;45(4):579-86.

Tsao H.
Genetics of non-melanoma skin cancer.
Arch Dermatol; 2001; 137: 1486-1492

Tsao H, Kwitkiwski K, Sober AJ.
A single-institution case series of patients with cutaneous melanoma and non-Hodgkin’s lymphoma.
J Am Acad Dermatol; 2002; 46:55-61

Tsao H, Millman P, Linette GP, Hodi FS, Sober AJ, Goldberg MA, Haluska FG.
Hypopigmentation associated with an adenovirus-mediated gp100/MART-1-transduced dendritic cell vaccine for metastatic melanoma.
Arch Dermatol. 2002;138:799-802.

Goggins WB, Tsao H.
A population-based analysis of risk factors for a second primary cutaneous melanoma among melanoma survivors.
Cancer 2003;97:639-43

Tsao H, Bevona C, Goggins W, Quinn T.
The transformation rate of moles (melanocytic nevi) into cutaneous melanoma.
Arch Dermatol 2003;139:282-8.

Tsao H, Mihm MC, Sheehan C.
PTEN expression in normal skin, acquired melanocytic nevi and cutaneous melanoma.
J Am Acad Dermatol 2003; 49(5):865-72

Bevona C, Goggins W, Quinn T, Fullerton J, Tsao H.
Cutaneous melanomas associated with nevi.
Arch Dermatol 2003;139:1620-4

[21]. Bevona C, Sober AJ, Tsao H Chapter 15.
Childhood melanoma. In: Balch C, Houghton AN, Sober AJ, Soong SJ, eds. Cutaneous Melanoma 6th Edition.
St Louis: Quality Medical Publishing, Inc, 2003: 309-318

Tsao H, Sober AJ. Chapter 91.
Atypical Melanocytic Nevi. In: Fitzpatrick TB, et al, eds. Fitzpatrick’s Dermatology in General Medicine, 6th Edition.
New York, NY: McGraw Hill, Inc., 2003: 906-916

Tsao H, Feldman M, Fullerton JE, Sober AJ, Rosenthal D, Goggins W.
Early detection of asymptomatic pulmonary melanoma metastases by routine chest radiographs is not associated with improved survival.
Arch Dermatol 2004;140:67-70.

Tsao H, Goel V, Wu H, Yang G, Haluska FG.
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma.
J Invest Dermatol. 2004 Feb; 122(2): 337-41.

Goggins W, Gao W, Tsao H.
Association between female breast cancer and cutaneous melanoma.
Int J Cancer. 2004 Sep 20; 111(5): 792-4.

Yang G, Niendorf KB, Tsao H.
A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred.
J Invest Dermatol. 2004 Sep; 123(3): 574-5.

Tsao H, Atkins MB, Sober AJ.
Management of cutaneous melanoma.
N Engl J Med. 2004 Sep 2; 351(10): 998-1012. Review. Erratum in: N Engl J Med. 2004 Dec 2; 351(23): 2461.

Tsai KY, Tsao H.
The genetics of skin cancer.
Am J Med Genet C Semin Med Genet. 2004 Nov 15; 131C(1): 82-92. Review.

Tsao H, Niendorf K.
Genetic testing in hereditary melanoma.
J Am Acad Dermatol. 2004 Nov; 51(5): 803-8. Review.

Niendorf KB, Goggins W, Yang G, Tsai KY, Shennan M, Bell DW, Sober AJ, Hogg D, Tsao H.
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.
J Med Genet. 2006 Jun; 43(6): 501-6. Epub 2005 Sep 16.

Yang G, Rajadurai A, Tsao H.
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
J Invest Dermatol. 2005 Dec;125(6):1242-51.

Niendorf KB, Tsao H.
Cutaneous melanoma: family screening and genetic testing.
Dermatol Ther. 2006 Jan-Feb; 19(1): 1-8. Review.

Haluska FG, Tsao H, Wu H, Haluska FS, Lazar A, Goel V.
Genetic alterations in signaling pathways in melanoma.
Clin Cancer Res. 2006 Apr 1; 12(7 Pt 2): 2301s-2307s. Review.

Yang G, Zhang G, Pittelkow MR, Ramoni M, Tsao H.
Expression profiling of UVB response in melanocytes identifies a set of p53-target genes.
J Invest Dermatol. 2006 Nov; 126(11): 2490-506. Epub 2006 Aug 3.

Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Lund Melanoma Study Group; Melanoma Genetics Consortium (GenoMEL).
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
J Med Genet. 2007 Feb; 44(2): 99-106. Epub 2006 Aug 11.

Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF, Azizi E, Bianchi-Scarra G, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon Albright LA, Demenais F, Elder DE, Ghiorzo P, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, Mackie RM, Magnusson V, Mann GJ, Niendorf K, Newton Bishop J, Palmer JM, Puig S, Puig-Butille JA, de Snoo FA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E; Melanoma Genetics Consortium (GenoMEL).
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Cancer Res. 2006 Oct 15; 66(20): 9818-28.

Lang J, Hayward N, Goldgar D, Tsao H, Hogg D, Palmer J, Stark M, Tobias ES, MacKie R.
The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.
Genes Chromosomes Cancer. 2007 Mar; 46(3): 277-87.

Hocker T, Tsao H.
Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants.
Hum Mutat. 2007 Jun; 28(6): 578-88. Review.

Yang G, Curley D, Bosenberg MW, Tsao H.
Loss of xeroderma pigmentosum C (Xpc) enhances melanoma photocarcinogenesis in Ink4a-Arf-deficient mice.
Cancer Res. 2007 Jun 15; 67(12): 5649-57.

Singh M, Lin J, Hocker TL, Tsao H.
Genetics of melanoma tumorigenesis.
Br J Dermatol. 2008 Jan; 158(1): 15-21. Epub 2007 Nov 28. Review.

Zhang G, Njauw CN, Park JM, Naruse C, Asano M, Tsao H.
EphA2 is an essential mediator of UV radiation-induced apoptosis.
Cancer Res. 2008 Mar 15; 68(6): 1691-6.

Harland M, Goldstein AM, Kukalizch K, Taylor C, Hogg D, Puig S, Badenas C, Gruis N, Ter Huurne J, Bergman W, Hayward NK, Stark M, Tsao H, Tucker MA, Landi MT, Scarra GB, Ghiorzo P, Kanetsky PA, Elder D, Mann GJ, Holland EA, Bishop DT, Newton Bishop J; members of GenoMEL, the Melanoma Genetics Consortium.
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Eur J Cancer. 2008 Jun; 44(9): 1269-1274. Epub 2008 Apr 3.

Lin J, Hocker TL, Singh M, Tsao H.
Genetics of melanoma predisposition.
Br J Dermatol. 2008 Jun 11.

Sun BK, Tsao H.
X-Chromosome Inactivation and Skin Disease.
J Invest Dermatol. 2008 May 29. [Epub ahead of print]

Lund Melanoma Study Group

Our group

Lund Melanoma Study Group


Group leaders

Håkan Olsson MD PHD

Christian Ingvar, MD PhD

Åke Borg MD PhD


The melanoma group in Lund is directed towards understanding the genetic and environmental epidemiology of susceptibility to melanoma and its tumour biology and prognosis.  The multidisciplinary group, that involves oncologists, surgeons, dermatologist, statistician, pathologists, and molecular biologist, has investigated among other things the role of constitutional factors (hair colour, eye colour, freckling, number of nevi), sun exposure, other sources of UV exposure (sunbeds) and genetic factors of melanoma. The Swedish founder mutation, ins 113 Arg, was first described by our group. Large case control and cohorts studies as well as biobanks of blood and tumour tissue makes a strong foundation for ongoing and future studies. Regurlarly this information is linked to data from population based registries such as Cancer Registry data and Cause of Death Registry data. A large number of families with familial/hereditary melanoma have been collected and special groups as patients with multiple tumours and ocular melanomas are the scope of present studies.


The names and e-mail addresses of group members with a description of their contribution

Principal researchers

Anna Måsbäck MD PhD

Kari Nielsen MD

Nils Jonsson MD PhD

Lotta Lundgren MD PhD

Johan Westerdahl MD PhD

Anna Bladström

Statistician

Therese Sandberg

Lab technician

Göran Jönsson PhD

Research nurse

Anita Smith Casslen

Research secretary

Ingrid Mårtensson


Publications

Westerdahl J, Olsson H, Måsbäck A, Ingvar C, Jonsson N, Brandt L, et al.
The use of sunbeds/sunlamps and malignant melanoma in southern Sweden.
Am J Epidemiol 1994;140:691-696.

Borg Å, Johannsson O, Westerdahl J, Måsbäck A, Olsson H, Ingvar C.
Novel germline mutation in the p16/CDKN2/MTS1 gene in familial malignant melanoma in south Sweden.
Cancer Research 1996;56(June 1):2497-2500.

Borg Å, Sandberg T, Nilsson K, Johanssson O, Klinker M, Måsbäck A, et al.
High frequency of multiple melanoma, breast and pancreas cancer in CDKN2 mutation positive families.
JNCI 2000;92:1260-1266.

Nielsen K, Ingvar C, Måsbäck A, Westerdahl J, Borg Å, Sandberg T, Olsson H.
Melanoma and non-melanoma skin cancer in patients with four or more tumours – a population based study.
Br J Dermatology 2004;150 (3)(March):531-536.

Westerdahl J, Måsbäck A, Ingvar C, Olsson H.
Sunscreen use and malignant melanoma.
Int J Cancer 2000;87:145-150.

Jönsson G, Bendahl PO, Sandberg T, Kurbasic A, Staaf J, Sunde L, Cruger D, Ingvar C, Olsson H, Borg Å.
Mapping of a novel ocular and cutaneous malignant melanoma susceptibiligy locus to chromosome 9q21.32.
Journal of the National Cancer Institute 1005; 97; 1377-1388.