{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:09:08Z","timestamp":1762160948622},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T00:00:00Z","timestamp":1339459200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cancer"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline <jats:italic>TP53<\/jats:italic> mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS\/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRCA2<\/jats:italic>, and <jats:italic>TP53<\/jats:italic> genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We have screened DNA copy number changes by MLPA on <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRCA2<\/jats:italic>, and <jats:italic>TP53<\/jats:italic> genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS\/LFL; most of these families also met the clinical criteria for other HBC syndromes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We found no DNA copy number alterations in the <jats:italic>BRCA2<\/jats:italic> and <jats:italic>TP53<\/jats:italic> genes, but we detected in one patient a 36.4 Kb <jats:italic>BRCA1<\/jats:italic> microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9\u201319. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking <jats:italic>Alu<\/jats:italic> sequences.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This is the first description of a germline intragenic <jats:italic>BRCA1<\/jats:italic> deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2407-12-237","type":"journal-article","created":{"date-parts":[[2012,6,20]],"date-time":"2012-06-20T09:49:09Z","timestamp":1340185749000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion"],"prefix":"10.1186","volume":"12","author":[{"given":"Amanda Gon\u00e7alves","family":"Silva","sequence":"first","affiliation":[]},{"given":"Ingrid Petroni","family":"Ewald","sequence":"additional","affiliation":[]},{"given":"Marina","family":"Sapienza","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Pinheiro","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Peixoto","sequence":"additional","affiliation":[]},{"given":"Amanda Fran\u00e7a","family":"de N\u00f3brega","sequence":"additional","affiliation":[]},{"given":"Dirce M","family":"Carraro","sequence":"additional","affiliation":[]},{"given":"Manuel R","family":"Teixeira","sequence":"additional","affiliation":[]},{"given":"Patricia","family":"Ashton-Prolla","sequence":"additional","affiliation":[]},{"given":"Maria Isabel W","family":"Achatz","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Rosenberg","sequence":"additional","affiliation":[]},{"given":"Ana C V","family":"Krepischi","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2012,6,12]]},"reference":[{"issue":"4985","key":"3394_CR1","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1126\/science.1978757","volume":"250","author":"D Malkin","year":"1990","unstructured":"Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 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