{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T11:49:43Z","timestamp":1790941783265,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2010,12,17]],"date-time":"2010-12-17T00:00:00Z","timestamp":1292544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Breast Cancer Res Treat"],"published-print":{"date-parts":[[2011,4]]},"DOI":"10.1007\/s10549-010-1289-x","type":"journal-article","created":{"date-parts":[[2010,12,16]],"date-time":"2010-12-16T08:13:58Z","timestamp":1292487238000},"page":"539-543","source":"Crossref","is-referenced-by-count":27,"title":["Mutation analysis of BRIP1 in male breast cancer cases: a population-based study in Central Italy"],"prefix":"10.1007","volume":"126","author":[{"given":"Valentina","family":"Silvestri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piera","family":"Rizzolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Falchetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Zanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Masala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Palli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ottini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,12,17]]},"reference":[{"issue":"1","key":"1289_CR1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0092-8674(01)00304-X","volume":"105","author":"SB Cantor","year":"2001","unstructured":"Cantor SB, Bell DW, Ganesan S et al (2001) BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105(1):149\u2013160","journal-title":"Cell"},{"issue":"9","key":"1289_CR2","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/ng1624","volume":"37","author":"O Levran","year":"2005","unstructured":"Levran O, Attwooll C, Henry RT et al (2005) The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37(9):931\u2013933","journal-title":"Nat Genet"},{"issue":"10","key":"1289_CR3","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/nrg2159","volume":"8","author":"W Wang","year":"2007","unstructured":"Wang W (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8(10):735\u2013748","journal-title":"Nat Rev Genet"},{"issue":"2","key":"1289_CR4","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ccr.2007.01.010","volume":"11","author":"T Walsh","year":"2007","unstructured":"Walsh T, King MC (2007) Ten genes for inherited breast cancer. Cancer Cell 11(2):103\u2013105","journal-title":"Cancer Cell"},{"issue":"11","key":"1289_CR5","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ng1902","volume":"38","author":"S Seal","year":"2006","unstructured":"Seal S, Thompson D, Renwick A et al (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38(11):1239\u20131241","journal-title":"Nat Genet"},{"issue":"8","key":"1289_CR6","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1073\/pnas.0308717101","volume":"101","author":"S Cantor","year":"2004","unstructured":"Cantor S, Drapkin R, Zhang F et al (2004) The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci USA 101(8):2357\u20132362","journal-title":"Proc Natl Acad Sci USA"},{"key":"1289_CR7","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1471-2407-4-9","volume":"4","author":"AJ Sigurdson","year":"2004","unstructured":"Sigurdson AJ, Hauptmann M, Chatterjee N et al (2004) Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC Cancer 4:9","journal-title":"BMC Cancer"},{"issue":"7","key":"1289_CR8","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1007\/s10038-008-0285-z","volume":"53","author":"F Gu\u00e9nard","year":"2008","unstructured":"Gu\u00e9nard F, Labrie Y, Ouellette G et al (2008) Mutational analysis of the breast cancer susceptibility gene BRIP1\/BACH1\/FANCJ in high-risk non-BRCA1\/BRCA2 breast cancer families. J Hum Genet 53(7):579\u2013591","journal-title":"J Hum Genet"},{"issue":"1","key":"1289_CR9","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10549-008-0052-z","volume":"115","author":"AY Cao","year":"2009","unstructured":"Cao AY, Huang J, Hu Z et al (2009) Mutation analysis of BRIP1\/BACH1 in BRCA1\/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat 115(1):51\u201355","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"1289_CR10","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S0959-8049(02)00498-7","volume":"39","author":"SM Karppinen","year":"2003","unstructured":"Karppinen SM, Vuosku J, Heikkinen K, Allinen M, Winqvist R (2003) No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer 39(3):366\u2013371","journal-title":"Eur J Cancer"},{"issue":"9510","key":"1289_CR11","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/S0140-6736(06)68226-3","volume":"367","author":"IS Fentiman","year":"2006","unstructured":"Fentiman IS, Fourquet A, Hortobagyi GN (2006) Male breast cancer. Lancet 367(9510):595\u2013604","journal-title":"Lancet"},{"issue":"2","key":"1289_CR12","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/s10549-008-0053-y","volume":"115","author":"V Speirs","year":"2009","unstructured":"Speirs V, Shaaban AM (2009) The rising incidence of male breast cancer. Breast Cancer Res Treat 115(2):429\u2013430","journal-title":"Breast Cancer Res Treat"},{"issue":"20","key":"1289_CR13","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1093\/jnci\/djn329","volume":"100","author":"LA Brinton","year":"2008","unstructured":"Brinton LA, Richesson DA, Gierach GL et al (2008) Prospective evaluation of risk factors for male breast cancer. J Natl Cancer Inst 100(20):1477\u20131481","journal-title":"J Natl Cancer Inst"},{"issue":"2","key":"1289_CR14","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.critrevonc.2009.04.003","volume":"73","author":"L Ottini","year":"2010","unstructured":"Ottini L, Palli D, Rizzo S, Federico M, Bazan V, Russo A (2010) Male breast cancer. Crit Rev Oncol Hematol 73(2):141\u2013155","journal-title":"Crit Rev Oncol Hematol"},{"issue":"1","key":"1289_CR15","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/ng879","volume":"31","author":"H Meijers-Heijboer","year":"2002","unstructured":"Meijers-Heijboer H, van den Ouweland A, Klijn J et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31(1):55\u201359","journal-title":"Nat Genet"},{"key":"1289_CR16","author":"YC Ding","year":"2010","unstructured":"Ding YC, Steele L, Kuan CJ, Greilac S, Neuhausen SL (2010) Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. Breast Cancer Res Treat. doi: 10.1007\/s10549-010-1195-2","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"1289_CR17","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/ijc.11385","volume":"108","author":"S Neuhausen","year":"2004","unstructured":"Neuhausen S, Dunning A, Steele L et al (2004) Role of CHEK2*1100delC in unselected series of non-BRCA1\/2 male breast cancers. Int J Cancer 108(3):477\u2013478","journal-title":"Int J Cancer"},{"issue":"3","key":"1289_CR18","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/s10549-008-0194-z","volume":"116","author":"L Ottini","year":"2009","unstructured":"Ottini L, Rizzolo P, Zanna I et al (2009) BRCA1\/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. Breast Cancer Res Treat 116(3):577\u2013586","journal-title":"Breast Cancer Res Treat"},{"issue":"1","key":"1289_CR19","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s10549-007-9689-2","volume":"110","author":"M Falchetti","year":"2008","unstructured":"Falchetti M, Lupi R, Rizzolo P et al (2008) BRCA1\/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Breast Cancer Res Treat 110(1):161\u2013167","journal-title":"Breast Cancer Res Treat"},{"issue":"1","key":"1289_CR20","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s10549-010-0797-z","volume":"122","author":"V Silvestri","year":"2010","unstructured":"Silvestri V, Rizzolo P, Zanna I et al (2010) PALB2 mutations in male breast cancer: a population-based study in Central Italy. Breast Cancer Res Treat 122(1):299\u2013301","journal-title":"Breast Cancer Res Treat"},{"issue":"6","key":"1289_CR21","doi-asserted-by":"crossref","first-page":"R1005","DOI":"10.1186\/bcr1336","volume":"7","author":"AG Lewis","year":"2005","unstructured":"Lewis AG, Flanagan J, Marsh A et al (2005) Mutation analysis of FANCD2, BRIP1\/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res 7(6):R1005\u2013R1016","journal-title":"Breast Cancer Res"},{"issue":"14","key":"1289_CR22","doi-asserted-by":"crossref","first-page":"4672","DOI":"10.1158\/1078-0432.CCR-08-0087","volume":"14","author":"A Nicolo De","year":"2008","unstructured":"De Nicolo A, Tancredi M, Lombardi G et al (2008) A novel breast cancer-associated BRIP1 (FANCJ\/BACH1) germ-line mutation impairs protein stability and function. Clin Cancer Res 14(14):4672\u20134680","journal-title":"Clin Cancer Res"},{"issue":"12","key":"1289_CR23","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1038\/sj.bjc.6605433","volume":"101","author":"AM Ray","year":"2009","unstructured":"Ray AM, Zuhlke KA, Johnson GR et al (2009) Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families. Br J Cancer 101(12):2043\u20132047","journal-title":"Br J Cancer"},{"key":"1289_CR24","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1200\/JCO.2004.05.055","volume":"22","author":"A Liede","year":"2004","unstructured":"Liede A, Karlan BY, Narod SA (2004) Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 22:735\u2013742","journal-title":"J Clin Oncol"},{"issue":"7133","key":"1289_CR25","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/nature05609","volume":"446","author":"H Erkko","year":"2007","unstructured":"Erkko H, Xia B, Nikkila J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446(7133):316\u2013319","journal-title":"Nature"},{"issue":"4","key":"1289_CR26","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1002\/ijc.10214","volume":"98","author":"L Luo","year":"2002","unstructured":"Luo L, Lei H, Du Q et al (2002) No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22. Int J Cancer 98(4):638\u2013639","journal-title":"Int J Cancer"},{"key":"1289_CR27","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1471-2407-6-19","volume":"6","author":"P Vahteristo","year":"2006","unstructured":"Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H (2006) BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer 6:19","journal-title":"BMC Cancer"}],"container-title":["Breast Cancer Research and Treatment"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-010-1289-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10549-010-1289-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10549-010-1289-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T16:33:41Z","timestamp":1559234021000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10549-010-1289-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,17]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["1289"],"URL":"https:\/\/doi.org\/10.1007\/s10549-010-1289-x","relation":{},"ISSN":["0167-6806","1573-7217"],"issn-type":[{"value":"0167-6806","type":"print"},{"value":"1573-7217","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,17]]}}}