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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

Bubien, Virginie ; Bonnet, Françoise ; Brouste, Veronique ; Hoppe, Stéphanie ; Barouk-Simonet, Emmanuelle ; David, Albert ; Edery, Patrick ; Bottani, Armand ; Layet, Valérie ; Caron, Olivier ; Gilbert-Dussardier, Brigitte ; Delnatte, Capucine ; Dugast, Catherine ; Fricker, Jean-Pierre ; Bonneau, Dominique ; Sevenet, Nicolas ; Longy, Michel ; Caux, Frédéric ; Abramowicz, Marc ; Bessis, Didier ; Bieth, Eric ; Bérard, Valérie Bonadonaon ; Bonnetblanc, Jean-Marie ; Demange, Liliane ; Feillet, François ; Frebourg, Thierry ; Giraud, Sophie ; Giurgea, Irina ; Heron, Delphine ; Holder, Muriel ; Journel, Hubert ; Julia, Sophie ; Kacem, Maha ; Lejeune, Sophie ; Leprat, Frédéric ; Leroux, Dominique ; Lok, Catherine ; Lortholary, Alain ; Lyonnet, Stanislas ; Margueritte, Geneviève ; Mauillon, Jacques ; Mazereeuw-Hautier, Juliette ; Odent, Sylvie ; Penet, Clotilde ; Philippe, Anne ; Plauchu, Henri ; Plessismenceau, Ghislaine ; Plouvieron, Emmanuel ; Richard, Marie-Aleth ; Saadi, Abdelkrim ; Saurin, Jean-Christophe ; Tinat, Julie ; Vabres, Pierre ; Van Maldergemteil, Lionel ; Vennin, Philippe ; Weiller, Pierre-Jean

Journal of medical genetics, 2013-04, Vol.50 (4), p.255-263 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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Título:
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Autor: Bubien, Virginie ; Bonnet, Françoise ; Brouste, Veronique ; Hoppe, Stéphanie ; Barouk-Simonet, Emmanuelle ; David, Albert ; Edery, Patrick ; Bottani, Armand ; Layet, Valérie ; Caron, Olivier ; Gilbert-Dussardier, Brigitte ; Delnatte, Capucine ; Dugast, Catherine ; Fricker, Jean-Pierre ; Bonneau, Dominique ; Sevenet, Nicolas ; Longy, Michel ; Caux, Frédéric ; Abramowicz, Marc ; Bessis, Didier ; Bieth, Eric ; Bérard, Valérie Bonadonaon ; Bonnetblanc, Jean-Marie ; Demange, Liliane ; Feillet, François ; Frebourg, Thierry ; Giraud, Sophie ; Giurgea, Irina ; Heron, Delphine ; Holder, Muriel ; Journel, Hubert ; Julia, Sophie ; Kacem, Maha ; Lejeune, Sophie ; Leprat, Frédéric ; Leroux, Dominique ; Lok, Catherine ; Lortholary, Alain ; Lyonnet, Stanislas ; Margueritte, Geneviève ; Mauillon, Jacques ; Mazereeuw-Hautier, Juliette ; Odent, Sylvie ; Penet, Clotilde ; Philippe, Anne ; Plauchu, Henri ; Plessismenceau, Ghislaine ; Plouvieron, Emmanuel ; Richard, Marie-Aleth ; Saadi, Abdelkrim ; Saurin, Jean-Christophe ; Tinat, Julie ; Vabres, Pierre ; Van Maldergemteil, Lionel ; Vennin, Philippe ; Weiller, Pierre-Jean
Assuntos: Adult ; Age ; Aged ; Breast Neoplasms - etiology ; Breast Neoplasms - genetics ; Cancer ; Cancer genetics ; Cancer: Breast ; Clinical Genetics ; Endometrial Neoplasms - genetics ; Female ; Genetic Association Studies ; Genetic testing ; Genotype & phenotype ; Germ-Line Mutation ; Guidelines ; Hamartoma Syndrome, Multiple - complications ; Hamartoma Syndrome, Multiple - genetics ; Hamartoma Syndrome, Multiple - pathology ; Humans ; Life Sciences ; Male ; Medical diagnosis ; Melanoma - etiology ; Melanoma - genetics ; Middle Aged ; Molecular Genetics ; Mutation ; Phosphatase ; PTEN Phosphohydrolase - genetics ; Questionnaires ; Risk Factors ; Survival analysis ; Thyroid Disease ; Thyroid gland ; Thyroid Neoplasms - etiology ; Thyroid Neoplasms - genetics
É parte de: Journal of medical genetics, 2013-04, Vol.50 (4), p.255-263
Notas: Original article
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A full list of the French Cowden disease network members is listed in appendix 1.
PMID:23335809
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Descrição: Background PTEN hamartoma tumour syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the PTEN tumour suppressor gene, including Cowden syndrome which is characterised by an increased risk of breast and thyroid cancers. Because PHTS is rare, data regarding cancer risks and genotype–phenotype correlations are limited. The objective of this study was to better define cancer risks in this syndrome with respect to the type and location of PTEN mutations. Methods 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. Detailed phenotypic information was obtained for 146 of them. Age and sex adjusted standardised incidence ratio (SIR) calculations, cumulative cancer risk estimations, and genotype–phenotype analyses were performed. Results Elevated SIRs were found mainly for female breast cancer (39.1, 95% CI 24.8 to 58.6), thyroid cancer in women (43.2, 95% CI 19.7 to 82.1) and in men (199.5, 95% CI 106.39 to 342.03), melanoma in women (28.3, 95% CI 7.6 to 35.4) and in men (39.4, 95% CI 10.6 to 100.9), and endometrial cancer (48.7, 95% CI 9.8 to 142.3). Cumulative cancer risks at age 70 were 85% (95% CI 70% to 95%) for any cancer, 77% (95% CI 59% to 91%) for female breast cancer, and 38% (95% CI 25% to 56%) for thyroid cancer. The risk of cancer was two times greater in women with PHTS than in men with PHTS (p<0.05). Conclusions This study shows a considerably high cumulative risk of cancer for patients with PHTS, mainly in women without clear genotype–phenotype correlation for this cancer risk. New recommendations for the management of PHTS patients are proposed.
Editor: England: BMJ Publishing Group Ltd
Idioma: Inglês

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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

England: BMJ Publishing Group Ltd

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