PMID- 11449303 OWN - NLM STAT- MEDLINE DCOM- 20010913 LR - 20190605 IS - 0100-879X (Print) IS - 0100-879X (Linking) VI - 34 IP - 7 DP - 2001 Jul TI - Lack of mutations of exon 2 of the MEN1 gene in endocrine and nonendocrine sporadic tumors. PG - 861-5 AB - In addition to the mutations that underlie most cases of the multiple endocrine neoplasia type 1 (MEN1) syndrome, somatic mutations of the MEN1 gene have also been described in sporadic tumors like gastrinomas, insulinomas and bronchial carcinoid neoplasm. We examined exon 2 of this gene, where most of the mutations have been described, in 148 endocrine and nonendocrine sporadic tumors. DNA was obtained by phenol/chloroform extraction and ethanol precipitation from 92 formalin-fixed, paraffin-embedded samples, and from 40 fresh tumor tissue samples. We used 5 pairs of primers to encompass the complete coding sequence of exon 2 of the MEN1 gene that was screened by the polymerase chain reaction-single-stranded conformation polymorphism (PCR-SSCP) technique in 78 sporadic thyroid cancers: 28 follicular adenomas, 35 papillary carcinomas, 14 follicular carcinomas, and 1 anaplastic thyroid carcinoma. We also examined 46 adrenal lesions (3 hyperplasias, 3 adenomas and 35 adrenocortical carcinomas, 2 pheochromocytomas, 2 ganglioneuroblastomas, and 1 lymphoma) and 24 breast cancers (6 noninvasive, 16 infiltrating ductal, and 2 invasive lobular tumors). The PCR product of 5 tumors suspected to present band shifts by SSCP was cloned. Direct sense and antisense sequencing did not identify mutations. These results suggest that the MEN1 gene is not important in breast, thyroid or adrenal sporadic tumorigenesis. Because the frequency of mutations varies significantly among tumor subgroups and allelic deletions are frequently observed at 11q13 in thyroid and adrenal cancers, another tumor suppressor gene residing in this region is likely to be involved in the tumorigenesis of these neoplasms. FAU - Costa, S C AU - Costa SC AD - Departamento de Clinica Medica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, Brasil. FAU - Nascimento, L S AU - Nascimento LS FAU - Ferreira, F J AU - Ferreira FJ FAU - Mattos, P S AU - Mattos PS FAU - Camara-Lopes, L H AU - Camara-Lopes LH FAU - Ward, L S AU - Ward LS LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Brazil TA - Braz J Med Biol Res JT - Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas JID - 8112917 RN - 0 (DNA, Neoplasm) RN - 0 (MEN1 protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Proto-Oncogene Proteins) SB - IM MH - Adolescent MH - Adrenal Gland Neoplasms/*genetics MH - Adult MH - Aged MH - Breast Neoplasms/*genetics MH - Child MH - Child, Preschool MH - DNA, Neoplasm/*analysis/genetics MH - Exons/*genetics MH - Female MH - Humans MH - Male MH - Middle Aged MH - Multiple Endocrine Neoplasia Type 1/genetics MH - Mutation/*genetics MH - Neoplasm Proteins/*genetics MH - Neoplasms/*genetics MH - Polymerase Chain Reaction MH - Polymorphism, Single-Stranded Conformational MH - *Proto-Oncogene Proteins EDAT- 2001/07/13 10:00 MHDA- 2001/09/14 10:01 CRDT- 2001/07/13 10:00 PHST- 2001/07/13 10:00 [pubmed] PHST- 2001/09/14 10:01 [medline] PHST- 2001/07/13 10:00 [entrez] AID - S0100-879X2001000700004 [pii] AID - 10.1590/s0100-879x2001000700004 [doi] PST - ppublish SO - Braz J Med Biol Res. 2001 Jul;34(7):861-5. doi: 10.1590/s0100-879x2001000700004.