NE Italy Melanoma Families Group

Our institution

National Cancer Institute


Our group

North Eastern Italy Melanoma Families Group
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd., Room 7114
Bethesda, MD 20892-7236
USA


The Group leader

Maria Teresa Landi, M.D., Ph.D.
Genetic Epidemiology Branch
Division of Cancer Epidemiology and Genetics
National Cancer Institute
NIH/DHHS
Executive Plaza South
6120 Executive Blvd., Room 7114
Bethesda, MD 20892-7236
USA

Tele: 01-301-402-9519
Fax: 01-301-402-4489
Email: landim@mail.nih.gov


We initiated a genetic epidemiologic study of familial melanoma in Cesena, Italy in 1994, in the North Eastern area of Italy. The major goal of the study is to investigate the genetic and environmental determinants of melanoma, in families with 2 or more relatives with melanoma. Multiple primary melanoma, dysplastic nevi, and pancreatic cancer cases are present in several families.

For families with no mutations in the CDKN2A gene, we search for additional susceptibility loci for melanoma. In addition, we study the contribution of modifier genes, including those involved in pigmentation, immune regulation, and DNA repair, and their interaction with environmental factors in the genesis of melanoma. Patients are evaluated at the Maurizio Bufalini Hospital of Cesena, Italy. The team currently include genetic epidemiologists, physicians, technicians, and laboratory investigators.


Related Links

National Cancer Institute
http://cancer.gov/

Genetic Epidemiology Branch
http://dceg.cancer.gov/genetic.html


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

Principal researchers

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

Alisa Goldstein, PhD
goldstea@mail.nih.gov

Margaret Tucker, MD
tuckerp@mail.nih.gov

Donato Calista
calista@iol.it

 

Labratory Scientists

Shirley Tsang, PhD
st248s@nih.gov

David Munroe, PhD
dm368n@nih.gov

 

Postdoctoral Fellow

Kimberly Kerstann, PhD
kkerstan@mail.nih.gov

 

Technicians

Paola Minghetti, MS
pminghetti@ausl-cesena.emr.it


University of Genova

genoateam

Our institution

Medical School
University of Genova
Via L.B. Alberti, 4
16132 Genova
Italy


Our group

Skin Cancer Genetics Group
Department of Oncology, Biology and Genetics
University of Genova
Viale Benedetto XV, 6
16132 Genova
Italy


The name, address and contact e-mail, tel of the group leader

Prof. Giovanna Bianchi-Scarrà, PhD
Department of Oncology, Biology and Genetics
Viale Benedetto XV, 6
16132 Genova
Italy

E-mail: vanceci@unige.it
Phone: (+39) 010 – 3537977
Fax: (+39) 010 – 3538978


The Skin Cancer Genetics Group at the Dept. of Oncology, Biology and Genetics conducts research on familial melanoma (high- and low-penetrance genes), presence of other cancers in melanoma-prone kindreds, and other heritable syndromes involving skin cancer.


Familial melanoma

Melanoma families in our region, Liguria, share a common primary susceptibility, the CDKN2A G101W founder mutation. Generally, CDKN2A mutations are found in large, dense melanoma kindreds. In Liguria, however, the G101W founder mutation is commonly identified in kindreds with just two affected members. In order to explain this finding we are studying other genes and factors that may be able to modify penetrance of the disease. Amongst these, over the past few years we have focused on the MC1R gene, variants of which are associated with fair skin and melanoma risk. We have recently identified novel variants of MC1R in Ligurian individuals, and found that in our population homozygosity or compound heterozygosity for high penetrance MC1R variants are not necessarily associated with red hair.

Moreover, we are setting up a nation-wide population-based study to establish the ratio of familial/non-familial G101W-mutated cases in Italy, in cooperation with Cancer Registries throughout the country.

We have also been studying the expression of the p16 protein in mutation-positive melanoma lesions, and have recently found that it is inversely correlated with tumor progression and shows altered subcellular distribution.

Other cancers in melanoma-prone kindreds

Many studies have reported that members of melanoma kindreds have a significantly increased risk of developing pancreatic cancer, and we have confirmed their results in our Ligurian melanoma families. We are currently conducting a hospital-based study to determine the frequency of both pancreatic and breast cancer in melanoma-prone families, and possibly explain the involvement of the CDKN2A and BRCA2 genes in the development of pancreatic cancer among patients whose family history of cancer displays the features of familial melanoma or breast-ovarian cancer syndrome or clusterings of tumor types which do not fit the stringent criteria for known hereditary cancer syndromes.

Other heritable syndromes involving skin cancers

More recently we have started to study Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We have completed the first molecular characterization of Italian NBCCS patients, and expect to provide soon a preliminary genotype-phenotype correlation which may lead to improved accuracy of diagnosis and help specialists to provide better and more appropriate treatment options.


Related Links

Facoltà di Medicina e Chirurgia, Università di Genova
http://en.unige.it/facolta/06.shtml

Dipartimento di Biologia, Oncologia e Genetica
http://www.dobig.unige.it/indiceE.htm

Italian Melanoma Intergroup
http://www.imi-online.it/