Familial gastric cancer and Li–Fraumeni syndrome
G. CORSO md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorC. PEDRAZZANI md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorD. MARRELLI md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorE. PINTO md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorF. ROVIELLO md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorG. CORSO md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorC. PEDRAZZANI md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorD. MARRELLI md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorE. PINTO md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorF. ROVIELLO md
Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy
Search for more papers by this authorAbstract
CORSO G., PEDRAZZANI C., MARRELLI D., PINTO E. & ROVIELLO F. (2010) European Journal of Cancer Care19, 377–381Familial gastric cancer and Li–Fraumeni syndrome
Gastric cancer occurs in some familial diseases with inherited cancer predisposition. Genetic factors have been correlated with the hereditary diffuse gastric cancer and other familial gastric cancer conditions as hereditary non-polyposis colorectal cancer and Li–Fraumeni syndrome. The present study was aimed at searching for germ line mutations of TP53 gene in familial gastric cancer with cluster for Li–Fraumeni syndrome or Li–Fraumeni-like syndrome. Twenty-three pedigrees with characteristics for Li–Fraumeni-like syndrome were identified. DNA of the proband was sequenced using polymerase chain reaction/single-strand conformation polymorphism. Among these 23 cases, no germ line mutation of TP53 was identified, while two single-nucleotide polymorphisms were identified in four patients. In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer.
REFERENCES
- Bernini M., Barbi S., Roviello F., Scarpa A., Moore P., Pedrazzani C., Beghelli S., Marrelli D. & De Manzoni G. (2006) Family history of gastric cancer: a correlation between epidemiologic findings and clinical data. Gastric Cancer 9, 9–13.
- Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A., Kelsey A.M., Harris M., Jones P.H., Binchy A., Crowther D., Craft A.W., Eden O.B., Evans D.G.R., Thompson E., Mann J.R., Martin J., Mitchell E.L.D. & Santibanez-Koref M.F. (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Research 54, 1298–1304.
- Birch J.M., Alston R.D., McNally R.J., Evans D.G., Kelsey A.M., Harris M., Eden O.B. & Varley J.M. (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20, 4621–4628.
- Brooks-Wilson A.R., Kaurah P., Suriano G., Leach S., Senz J., Grehan N., Butterfield Y.S., Jeyes J., Schinas J., Bacani J., Kelsey M., Ferreira P., MacGillivray B., MacLeod P., Micek M., Ford J., Foulkes W., Australie K., Greenberg C., LaPointe M., Gilpin C., Nikkel S., Gilchrist D., Hughes R., Jackson C.E., Monaghan K.G., Oliveira M.J., Seruca R., Gallinger S., Caldas C. & Huntsman D. (2004) Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. Journal of Medical Genetics 41, 508–517.
- Caldas C., Carneiro F., Lynch H.T., Yokota J., Wiesner G.L., Powell S.M., Lewis F.R., Huntsman D.G., Pharoah P.D., Jankowski J.A., MacLeod P., Vogelsang H., Keller G., Park K.G., Richards F.M., Maher E.R., Gayther S.A., Oliveira C., Grehan N., Wight D., Seruca R., Roviello F., Ponder B.A. & Jackson C.E. (1999) Familial gastric cancer: overview and guidelines for management. Journal of Medical Genetics 36, 873–880.
- Carneiro F., Oliveira C., Suriano G. & Seruca R. (2008) Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. Journal of Clinical Pathology 61, 25–30.
- Chompret A. (2002) The Li-Fraumeni syndrome. Biochimie 84, 75–82.
- Corso G., Roviello F., Paredes J., Pedrazzani C., Novais M., Correia J., Marrelli D., Cirnes L., Seruca R., Oliveira C. & Suriano G. (2007) Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management. European Journal of Surgical Oncology 33, 1061–1067.
- Guilford P., Hopkins J., Harraway J., McLeod M., McLeod N., Harawira P., Taite H., Scoular R., Miller A. & Reeve A.E. (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392, 402–405.
- Keller G., Vogelsang H., Becker I., Plaschke S., Ott K., Suriano G., Mateus A.R., Seruca R., Biedermann K., Huntsman D., Döring C., Holinski-Feder E., Neutzling A., Siewert J.R. & Höfler H. (2004) Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients. Journal of Medical Genetics 41, 89.
- Kim I.J., Kang H.C., Shin Y., Park H.W., Jang S.G., Han S.Y., Lim S.K., Lee M.R., Chang H.J., Ku J.L., Yang H.K. & Park J.G. (2004) A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. Journal of Human Genetics 49, 591–595.
- Kusano M., Kakiuchi H., Mihara M., Itoh F., Adachi Y., Ohara M., Hosokawa M. & Imai K. (2001) Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer. Tumor Biology 22, 262–268.
- Li F.P., Fraumeni J.F., Jr, Mulvihill J.J., Blattner W.A., Dreyfus M.G., Tucker M.A. & Miller R.W. (1988) A cancer family syndrome in twenty-four kindreds. Cancer Research 48, 5358–5362.
- Lynch H.T. & Lynch J.F. (2002) Cancer family history and genetic testing: are malpractice adjudications waiting to happen? American Journal of Gastroenterology 97, 518–520.
- Oliveira C., Ferreira P., Nabais S., Campos L., Ferreira A., Cirnes L., Alves C.C., Veiga I., Fragoso M., Regateiro F., Dias L.M., Moreira H., Suriano G., Machado J.C., Lopes C., Castedo S., Carneiro F. & Seruca R. (2004) European Journal of Cancer 40, 1897–1903.
- Olivier M., Goldgar D.E., Sodha N., Ohgaki H., Kleihues P., Hainaut P. & Eeles R.A. (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Research 63, 6643–6650.
- Parkin D.M., Bray F.I. & Devesa S.S. (2001) Cancer burden in the year 2000. The global picture. European Journal of Cancer 37 (Suppl.8), S4–S66.
- Pedrazzani C., Corso G., Marrelli D. & Roviello F. (2007) E-cadherin and hereditary diffuse gastric cancer. Surgery 142, 645–657.
- Roviello F., Corso G., Pedrazzani C., Marrelli D., De Falco G., Berardi A., Garosi L., Suriano G., Vindigni C., De Stefano A., Leoncini L., Seruca R. & Pinto E. (2007) Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. European Journal of Surgical Oncology 33, 448–451.
- Roviello F., Corso G., Pedrazzani C., Marrelli D., De Falco G., Suriano G., Vindigni C., Berardi A., Garosi L., De Stefano A., Leoncini L., Seruca R. & Pinto E. (2008) High incidence of familial gastric cancer in tuscany, a region in Italy. Oncology 72, 243–247.
- Stone J., Bevan S., Cunningham D., Hill A., Rahman N., Peto J., Marossy A. & Houlston R.S. (1999) Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer. British Journal of Cancer 79, 1935–1937.
- Sugano K., Taniguchi T., Saeki M., Tsunematsu Y., Tomaru U. & Shimoda T. (1999) Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. Japanese Journal of Clinical Oncology 29, 513–516.
- Varlery J.M. (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Human Mutation 21, 313–320.
- Vogelstein B., Lane D. & Levine A.J. (2000) Surfing the p53 network. Nature 408, 307–310.
