{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T21:35:11Z","timestamp":1789421711255,"version":"build-2803163510"},"reference-count":95,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/100012964","name":"Minist\u00e8re de l\u2019Enseignement Sup\u00e9rieur et de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012964","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004690","name":"Minist\u00e8re de la Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004690","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"DOI":"10.1186\/s12967-025-07027-8","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T14:55:04Z","timestamp":1760453704000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients"],"prefix":"10.1186","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7409-9240","authenticated-orcid":false,"given":"Maroua","family":"Boujemaa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2815-1834","authenticated-orcid":false,"given":"Yosr","family":"Hamdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souhir","family":"Guidara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3838-1876","authenticated-orcid":false,"given":"Amal","family":"Souissi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5885-1252","authenticated-orcid":false,"given":"Hanen","family":"Bouaziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7647-5027","authenticated-orcid":false,"given":"Nesrine","family":"Mejri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samir","family":"Aloulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najet","family":"Mahjoub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kais","family":"Chaabane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hakim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4131-8475","authenticated-orcid":false,"given":"Hamouda","family":"Boussen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4456-638X","authenticated-orcid":false,"given":"Tarek Ben","family":"Dhiab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0175-6136","authenticated-orcid":false,"given":"Salma","family":"Kamoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahma","family":"Ayadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Driss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Ayadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6221-2661","authenticated-orcid":false,"given":"Fouzia","family":"Radouani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8227-1549","authenticated-orcid":false,"given":"Meryem","family":"Fakhkhari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9376-4322","authenticated-orcid":false,"given":"Meriem","family":"Khyatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8466-5525","authenticated-orcid":false,"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9224-5050","authenticated-orcid":false,"given":"Khalid","family":"Sadki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed Samir","family":"Boubaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8954-8683","authenticated-orcid":false,"given":"Ahmed","family":"Rebai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6923-2948","authenticated-orcid":false,"given":"Boutheina","family":"Cherif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,14]]},"reference":[{"issue":"8","key":"7027_CR1","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1158\/2159-8290.CD-17-0151","volume":"7","author":"AACR Project GENIE Consortium","year":"2017","unstructured":"AACR Project GENIE Consortium. AACR project GENIE: powering precision medicine through an international consortium. Cancer Discov. 2017;7(8):818\u201331. https:\/\/doi.org\/10.1158\/2159-8290.CD-17-0151.","journal-title":"Cancer Discov"},{"key":"7027_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cyto.2019.154790","volume":"125","author":"MT Abo-Elfadl","year":"2020","unstructured":"Abo-Elfadl MT, Gamal-Eldeen AM, Ismail MF, Shahin NN. Silencing of the cytokine receptor TNFRSF13B: a new therapeutic target for triple-negative breast cancer. Cytokine. 2020;125:154790. https:\/\/doi.org\/10.1016\/j.cyto.2019.154790.","journal-title":"Cytokine"},{"issue":"2","key":"7027_CR3","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1158\/1055-9965.EPI-19-0506","volume":"29","author":"B Adedokun","year":"2020","unstructured":"Adedokun B, Zheng Y, Ndom P, et al. Prevalence of inherited mutations in breast cancer predisposition genes among women in Uganda and Cameroon. Cancer Epidemiol Biomarkers Prev. 2020;29(2):359\u201367. https:\/\/doi.org\/10.1158\/1055-9965.EPI-19-0506.","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"1","key":"7027_CR4","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12010093","volume":"12","author":"A Alqahtani","year":"2019","unstructured":"Alqahtani A, Ayesh HSK, Halawani H. PIK3CA gene mutations in solid malignancies: association with clinicopathological parameters and prognosis. Cancers (Basel). 2019;12(1):93. https:\/\/doi.org\/10.3390\/cancers12010093.","journal-title":"Cancers (Basel)"},{"issue":"4","key":"7027_CR5","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1002\/path.4681","volume":"238","author":"A Arora","year":"2016","unstructured":"Arora A, Agarwal D, Abdel-Fatah TM, Lu H, Croteau DL, Moseley P, et al. RECQL4 helicase has oncogenic potential in sporadic breast cancers. J Pathol. 2016;238(4):495\u2013501. https:\/\/doi.org\/10.1002\/path.4681.","journal-title":"J Pathol"},{"issue":"5","key":"7027_CR6","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22052622","volume":"22","author":"\u00c1 Bartha","year":"2021","unstructured":"Bartha \u00c1, Gy\u0151rffy B. TNMplot.com: a web tool for the comparison of gene expression in normal, tumor, and metastatic tissues. Int J Mol Sci. 2021;22(5):2622.","journal-title":"Int J Mol Sci"},{"issue":"Suppl 1","key":"7027_CR7","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1634\/theoncologist.2011-S1-12","volume":"16","author":"J Baselga","year":"2011","unstructured":"Baselga J. Targeting the phosphoinositide-3 (PI3) kinase pathway in breast cancer. Oncologist. 2011;16(Suppl 1):12\u20139. https:\/\/doi.org\/10.1634\/theoncologist.2011-S1-12.","journal-title":"Oncologist"},{"issue":"4","key":"7027_CR8","doi-asserted-by":"publisher","first-page":"1422","DOI":"10.3390\/jcm12041422","volume":"12","author":"S Bertozzi","year":"2023","unstructured":"Bertozzi S, Londero AP, Xholli A, Azioni G, Di Vora R, Paudice M, et al. Risk-reducing breast and gynecological surgery for BRCA mutation carriers: a narrative review. J Clin Med. 2023;12(4):1422. https:\/\/doi.org\/10.3390\/jcm12041422.","journal-title":"J Clin Med"},{"issue":"3","key":"7027_CR9","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1002\/1878-0261.12621","volume":"14","author":"F Bertucci","year":"2020","unstructured":"Bertucci F, Rypens C, Finetti P, et al. NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers. Mol Oncol. 2020;14(3):504\u201319. https:\/\/doi.org\/10.1002\/1878-0261.12621.","journal-title":"Mol Oncol"},{"issue":"1","key":"7027_CR10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0245362","volume":"16","author":"M Boujemaa","year":"2021","unstructured":"Boujemaa M, Hamdi Y, Mejri N, Romdhane L, Ghedira K, Bouaziz H, et al. Germline copy number variations in BRCA1\/2 negative families: role in the molecular etiology of hereditary breast cancer in Tunisia. PLoS ONE. 2021;16(1):e0245362. https:\/\/doi.org\/10.1371\/journal.pone.0245362.","journal-title":"PLoS ONE"},{"issue":"11 Suppl","key":"7027_CR11","doi-asserted-by":"publisher","first-page":"2730","DOI":"10.1002\/cncr.25175","volume":"116","author":"H Boussen","year":"2010","unstructured":"Boussen H, Bouzaiene H, Ben Hassouna J, Dhiab T, Khomsi F, Benna F, et al. Inflammatory breast cancer in Tunisia: epidemiological and clinical trends. Cancer. 2010;116(11 Suppl):2730\u20135. https:\/\/doi.org\/10.1002\/cncr.25175.","journal-title":"Cancer"},{"issue":"D1","key":"7027_CR12","doi-asserted-by":"crossref","first-page":"D1228","DOI":"10.1093\/nar\/gks1147","volume":"41","author":"K Breuer","year":"2013","unstructured":"Breuer K, Foroushani AK, Laird MR, Chen C, Sribnaia A, Lo R, et al. InnateDB: systems biology of innate immunity and beyond\u2014recent updates and continuing curation. Nucleic Acids Res. 2013;41(D1):D1228\u201333.","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"7027_CR13","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1016\/s1072-7515(98)00107-0","volume":"186","author":"HL Brooks","year":"1998","unstructured":"Brooks HL, Mandava N, Pizzi WF, Shah S. Inflammatory breast carcinoma: a community hospital experience. J Am Coll Surg. 1998;186(6):622\u20139. https:\/\/doi.org\/10.1016\/s1072-7515(98)00107-0.","journal-title":"J Am Coll Surg"},{"issue":"2","key":"7027_CR14","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s10549-011-1422-5","volume":"131","author":"N Chaher","year":"2012","unstructured":"Chaher N, Arias-Pulido H, Terki N, Qualls C, Bouzid K, Verschraegen C, et al. Molecular and epidemiological characteristics of inflammatory breast cancer in Algerian patients. Breast Cancer Res Treat. 2012;131(2):437\u201344. https:\/\/doi.org\/10.1007\/s10549-011-1422-5.","journal-title":"Breast Cancer Res Treat"},{"key":"7027_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jare.2020.08.014","volume":"29","author":"S Chainitikun","year":"2020","unstructured":"Chainitikun S, Saleem S, Lim B, Valero V, Ueno NT. Update on systemic treatment for newly diagnosed inflammatory breast cancer. J Adv Res. 2020;29:1\u201312. https:\/\/doi.org\/10.1016\/j.jare.2020.08.014.","journal-title":"J Adv Res"},{"issue":"1","key":"7027_CR16","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/s41598-021-03471-w","volume":"12","author":"HJ Chang","year":"2022","unstructured":"Chang HJ, Yang UC, Lai MY, Chen CH, Fann YC. High BRCA1 gene expression increases the risk of early distant metastasis in ER+ breast cancers. Sci Rep. 2022;12(1):77. https:\/\/doi.org\/10.1038\/s41598-021-03471-w.","journal-title":"Sci Rep"},{"issue":"3","key":"7027_CR17","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1111\/cas.13931","volume":"110","author":"JS Chen","year":"2019","unstructured":"Chen JS, Huang JQ, Luo B, Dong SH, Wang RC, Jiang ZK, et al. PIK3CD induces cell growth and invasion by activating AKT\/GSK-3\u03b2\/\u03b2-catenin signaling in colorectal cancer. Cancer Sci. 2019;110(3):997\u20131011. https:\/\/doi.org\/10.1111\/cas.13931.","journal-title":"Cancer Sci"},{"issue":"5","key":"7027_CR18","doi-asserted-by":"crossref","DOI":"10.3390\/cancers12051286","volume":"12","author":"C Santonocito","year":"2020","unstructured":"Santonocito C, Rizza R, Paris I, De Marchis L, Paolillo C, Tiberi G, et al. Spectrum of germline BRCA1 and BRCA2 variants identified in 2351 ovarian and breast cancer patients referring to a reference cancer hospital of Rome. Cancers (Basel). 2020;12(5):1286.","journal-title":"Cancers (Basel)"},{"issue":"20","key":"7027_CR19","doi-asserted-by":"publisher","first-page":"1909","DOI":"10.1056\/NEJMra0809889","volume":"362","author":"AD D'Andrea","year":"2010","unstructured":"D\u2019Andrea AD. Susceptibility pathways in Fanconi\u2019s anemia and breast cancer. N Engl J Med. 2010;362(20):1909\u201319. https:\/\/doi.org\/10.1056\/NEJMra0809889.","journal-title":"N Engl J Med"},{"issue":"15","key":"7027_CR20","doi-asserted-by":"publisher","first-page":"3918","DOI":"10.3390\/cancers13153918","volume":"13","author":"DN Danforth","year":"2021","unstructured":"Danforth DN. The role of chronic inflammation in the development of breast cancer. Cancers (Basel). 2021;13(15):3918. https:\/\/doi.org\/10.3390\/cancers13153918.","journal-title":"Cancers (Basel)"},{"issue":"3","key":"7027_CR21","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1093\/annonc\/mdq345","volume":"22","author":"S Dawood","year":"2011","unstructured":"Dawood S, Merajver SD, Viens P, Vermeulen PB, Swain SM, Buchholz TA, et al. International expert panel on inflammatory breast cancer: consensus statement for standardized diagnosis and treatment. Ann Oncol. 2011;22(3):515\u201323. https:\/\/doi.org\/10.1093\/annonc\/mdq345.","journal-title":"Ann Oncol"},{"issue":"4","key":"7027_CR22","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12040829","volume":"12","author":"J Del Valle","year":"2020","unstructured":"Del Valle J, Rofes P, Moreno-Cabrera JM, L\u00f3pez-D\u00f3riga A, Belhadj S, Vargas-Parra G, et al. Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients. Cancers (Basel). 2020;12(4):829. https:\/\/doi.org\/10.3390\/cancers12040829.","journal-title":"Cancers (Basel)"},{"issue":"1","key":"7027_CR23","doi-asserted-by":"publisher","first-page":"95","DOI":"10.3233\/JHD-200448","volume":"10","author":"AL Deshmukh","year":"2021","unstructured":"Deshmukh AL, Porro A, Mohiuddin M, Lanni S, Panigrahi GB, Caron MC, et al. FAN1, a DNA repair nuclease, as a modifier of repeat expansion disorders. J Huntingtons Dis. 2021;10(1):95\u2013122. https:\/\/doi.org\/10.3233\/JHD-200448.","journal-title":"J Huntingtons Dis"},{"issue":"W1","key":"7027_CR24","doi-asserted-by":"publisher","first-page":"W545","DOI":"10.1093\/nar\/gky471","volume":"46","author":"JP Desvignes","year":"2018","unstructured":"Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, B\u00e9roud C, et al. Varaft: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Res. 2018;46(W1):W545\u201353. https:\/\/doi.org\/10.1093\/nar\/gky471.","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"7027_CR25","doi-asserted-by":"publisher","first-page":"3526","DOI":"10.1038\/s41467-021-23752-2","volume":"12","author":"V Ecker","year":"2021","unstructured":"Ecker V, Stumpf M, Brandmeier L, Neumayer T, Pfeuffer L, Engleitner T, et al. Targeted PI3K\/AKT-hyperactivation induces cell death in chronic lymphocytic leukemia. Nat Commun. 2021;12(1):3526. https:\/\/doi.org\/10.1038\/s41467-021-23752-2.","journal-title":"Nat Commun"},{"key":"7027_CR26","doi-asserted-by":"publisher","first-page":"815","DOI":"10.2147\/OTT.S369844","volume":"15","author":"S Edaily","year":"2022","unstructured":"Edaily S, Abdel-Razeq H. Management strategies of breast cancer patients with BRCA1 and BRCA2 pathogenic germline variants. OncoTargets Ther. 2022;15:815\u201326. https:\/\/doi.org\/10.2147\/OTT.S369844.","journal-title":"OncoTargets Ther"},{"issue":"1","key":"7027_CR27","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-27315-2","volume":"8","author":"EI Palmero","year":"2018","unstructured":"Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos \u00c2, Abe-Sandes K, et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci Rep. 2018;8(1):9188. https:\/\/doi.org\/10.1038\/s41598-018-27315-2.","journal-title":"Sci Rep"},{"issue":"6","key":"7027_CR28","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1038\/ejhg.2017.42","volume":"25","author":"JM Ellingford","year":"2017","unstructured":"Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, et al. Validation of copy number variation analysis for next-generation sequencing diagnostics. Eur J Hum Genet. 2017;25(6):719\u201324. https:\/\/doi.org\/10.1038\/ejhg.2017.42.","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"7027_CR29","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1002\/ajpa.21581","volume":"146","author":"K Fadhlaoui-Zid","year":"2011","unstructured":"Fadhlaoui-Zid K, Mart\u00ednez-Cruz B, Khodjet-El-Khil H, Mendizabal I, Benammar-Elgaaied A, Comas D. Genetic structure of Tunisian ethnic groups revealed by paternal lineages. Am J Phys Anthropol. 2011;146(2):271\u201380. https:\/\/doi.org\/10.1002\/ajpa.21581.","journal-title":"Am J Phys Anthropol"},{"issue":"7","key":"7027_CR30","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0069600","volume":"8","author":"H Fang","year":"2013","unstructured":"Fang H, Nie L, Chi Z, Liu J, Guo D, Lu X, et al. RecQL4 helicase amplification is involved in human breast tumorigenesis. PLoS ONE. 2013;8(7):e69600. https:\/\/doi.org\/10.1371\/journal.pone.0069600.","journal-title":"PLoS ONE"},{"issue":"3","key":"7027_CR31","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/humu.24158","volume":"42","author":"PS Felicio","year":"2021","unstructured":"Felicio PS, Grasel RS, Campacci N, de Paula AE, Galv\u00e3o HCR, Torrezan GT, et al. Whole-exome sequencing of non-BRCA1\/BRCA2 mutation carrier cases at high-risk for hereditary breast\/ovarian cancer. Hum Mutat. 2021;42(3):290\u20139. https:\/\/doi.org\/10.1002\/humu.24158.","journal-title":"Hum Mutat"},{"key":"7027_CR32","doi-asserted-by":"publisher","unstructured":"Fried AJ, Rauter I, Dillon SR, Jabara HH, Geha RS. Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. J Allergy Clin Immunol. 2011;128(1):226-228.e1. https:\/\/doi.org\/10.1016\/j.jaci.2011.01.048.","DOI":"10.1016\/j.jaci.2011.01.048"},{"issue":"4","key":"7027_CR33","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.jchb.2017.05.003","volume":"68","author":"S Frigi","year":"2017","unstructured":"Frigi S, Mota-Vieira L, Cherni L, van Oven M, Pires R, Boussetta S, et al. Mitochondrial DNA analysis of Tunisians reveals a mosaic genetic structure with recent population expansion. Homo. 2017;68(4):298\u2013315.","journal-title":"Homo"},{"issue":"5","key":"7027_CR34","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.3390\/genes14051025","volume":"14","author":"M Garutti","year":"2023","unstructured":"Garutti M, Foffano L, Mazzeo R, Michelotti A, Da Ros L, Viel A, et al. Hereditary cancer syndromes: a comprehensive review with a visual tool. Genes. 2023;14(5):1025. https:\/\/doi.org\/10.3390\/genes14051025.","journal-title":"Genes"},{"issue":"20","key":"7027_CR35","doi-asserted-by":"publisher","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","volume":"34","author":"V Geoffroy","year":"2018","unstructured":"Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinformatics. 2018;34(20):3572\u20134. https:\/\/doi.org\/10.1093\/bioinformatics\/bty304.","journal-title":"Bioinformatics"},{"issue":"1","key":"7027_CR36","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.clbc.2021.08.001","volume":"22","author":"P Gianni","year":"2022","unstructured":"Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, et al. The Fanconi anemia pathway and breast cancer: a comprehensive review of clinical data. Clin Breast Cancer. 2022;22(1):10\u201325. https:\/\/doi.org\/10.1016\/j.clbc.2021.08.001.","journal-title":"Clin Breast Cancer"},{"issue":"16","key":"7027_CR37","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22168924","volume":"22","author":"Y Gong","year":"2021","unstructured":"Gong Y, Nagarathinam R, Arisi MF, Gerratana L, Winn JS, Slifker M, et al. Genetic variants and tumor immune microenvironment: clues for targeted therapies in inflammatory breast cancer (IBC). Int J Mol Sci. 2021;22(16):8924. https:\/\/doi.org\/10.3390\/ijms22168924.","journal-title":"Int J Mol Sci"},{"key":"7027_CR38","doi-asserted-by":"publisher","first-page":"4101","DOI":"10.1016\/j.csbj.2021.07.014","volume":"19","author":"B Gy\u0151rffy","year":"2021","unstructured":"Gy\u0151rffy B. Survival analysis across the entire transcriptome identifies biomarkers with the highest prognostic power in breast cancer. Comput Struct Biotechnol J. 2021;19:4101\u20139. https:\/\/doi.org\/10.1016\/j.csbj.2021.07.014.","journal-title":"Comput Struct Biotechnol J"},{"key":"7027_CR39","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2021.674965","volume":"11","author":"Y Hamdi","year":"2021","unstructured":"Hamdi Y, Mighri N, Boujemaa M, Mejri N, Ben Nasr S, Ben Rekaya M, et al. Identification of eleven novel BRCA mutations in Tunisia: impact on the clinical management of BRCA related cancers. Front Oncol. 2021;11:674965. https:\/\/doi.org\/10.3389\/fonc.2021.674965.","journal-title":"Front Oncol"},{"issue":"49","key":"7027_CR40","doi-asserted-by":"publisher","first-page":"80140","DOI":"10.18632\/oncotarget.12818","volume":"7","author":"Y Hamdi","year":"2016","unstructured":"Hamdi Y, Soucy P, Adoue V, Michailidou K, Canisius S, Lema\u00e7on A, et al. Association of breast cancer risk with genetic variants showing differential allelic expression: identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget. 2016;7(49):80140\u201363. https:\/\/doi.org\/10.18632\/oncotarget.12818.","journal-title":"Oncotarget"},{"issue":"3","key":"7027_CR41","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s10689-015-9803-2","volume":"14","author":"MF Hansen","year":"2015","unstructured":"Hansen MF, Johansen J, Bj\u00f8rnevoll I, Sylvander AE, Steinsbekk KS, S\u00e6trom P, et al. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. Fam Cancer. 2015;14(3):437\u201348. https:\/\/doi.org\/10.1007\/s10689-015-9803-2.","journal-title":"Fam Cancer"},{"issue":"1","key":"7027_CR42","doi-asserted-by":"publisher","first-page":"14737","DOI":"10.1038\/s41598-021-94316-z","volume":"11","author":"HT Helgadottir","year":"2021","unstructured":"Helgadottir HT, Thutkawkorapin J, Lagerstedt-Robinson K, Lindblom A. Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes. Sci Rep. 2021;11(1):14737. https:\/\/doi.org\/10.1038\/s41598-021-94316-z.","journal-title":"Sci Rep"},{"issue":"1","key":"7027_CR43","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/2193-1801-2-3","volume":"2","author":"KA Hirko","year":"2013","unstructured":"Hirko KA, Soliman AS, Banerjee M, Ruterbusch J, Harford JB, Chamberlain RM, et al. Characterizing inflammatory breast cancer among Arab Americans in the California, Detroit and New Jersey Surveillance, Epidemiology and End Results (SEER) registries (1988\u20132008). Springerplus. 2013;2(1):3. https:\/\/doi.org\/10.1186\/2193-1801-2-3.","journal-title":"Springerplus"},{"key":"7027_CR44","doi-asserted-by":"publisher","DOI":"10.1038\/s41698-024-00668-w","volume":"8","author":"W Hu","year":"2024","unstructured":"Hu W, Zhao Z, Du J, et al. Interferon signaling and ferroptosis in tumor immunology and therapy. NPJ Precis Oncol. 2024;8:177. https:\/\/doi.org\/10.1038\/s41698-024-00668-w.","journal-title":"NPJ Precis Oncol"},{"key":"7027_CR45","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2023.1110207","volume":"13","author":"Y Jia","year":"2023","unstructured":"Jia Y, Guo B, Zhang W, Wang F, Zhang Y, Zhang Q, et al. Pan-cancer analysis of the prognostic and immunological role of GJB2: a potential target for survival and immunotherapy. Front Oncol. 2023;13:1110207. https:\/\/doi.org\/10.3389\/fonc.2023.1110207.","journal-title":"Front Oncol"},{"key":"7027_CR46","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.critrevonc.2016.08.002","volume":"106","author":"NE Kelm","year":"2016","unstructured":"Kelm NE, Zhu Z, Ding VA, Xiao H, Wakefield MR, Bai Q, et al. The role of IL-29 in immunity and cancer. Crit Rev Oncol Hematol. 2016;106:91\u20138. https:\/\/doi.org\/10.1016\/j.critrevonc.2016.08.002.","journal-title":"Crit Rev Oncol Hematol"},{"issue":"1","key":"7027_CR47","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1749-6632.2010.05869.x","volume":"1217","author":"WG Kerr","year":"2011","unstructured":"Kerr WG. Inhibitor and activator: dual functions for SHIP in immunity and cancer. Ann N Y Acad Sci. 2011;1217(1):1\u201317. https:\/\/doi.org\/10.1111\/j.1749-6632.2010.05869.x.","journal-title":"Ann N Y Acad Sci"},{"issue":"3","key":"7027_CR48","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1007\/s10549-019-05415-5","volume":"178","author":"W Klu\u017aniak","year":"2019","unstructured":"Klu\u017aniak W, Woko\u0142orczyk D, Rusak B, Huzarski T, Gronwald J, Stempa K, et al. Inherited variants in XRCC2 and the risk of breast cancer. Breast Cancer Res Treat. 2019;178(3):657\u201363. https:\/\/doi.org\/10.1007\/s10549-019-05415-5.","journal-title":"Breast Cancer Res Treat"},{"issue":"2","key":"7027_CR49","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1111\/ahg.12354","volume":"84","author":"M Koohiyan","year":"2020","unstructured":"Koohiyan M, Koohian F, Azadegan-Dehkordi F. GJB2-related hearing loss in central Iran: review of the spectrum and frequency of gene mutations. Ann Hum Genet. 2020;84(2):107\u201313. https:\/\/doi.org\/10.1111\/ahg.12354.","journal-title":"Ann Hum Genet"},{"issue":"30","key":"7027_CR50","doi-asserted-by":"publisher","first-page":"49370","DOI":"10.18632\/oncotarget.17217","volume":"8","author":"J Li","year":"2017","unstructured":"Li J, Xia Y, Wu Q, Zhu S, Chen C, Yang W, et al. Outcomes of patients with inflammatory breast cancer by hormone receptor- and HER2-defined molecular subtypes: a population-based study from the SEER program. Oncotarget. 2017;8(30):49370\u20139. https:\/\/doi.org\/10.18632\/oncotarget.17217.","journal-title":"Oncotarget"},{"issue":"1","key":"7027_CR51","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00879-x","volume":"13","author":"X Li","year":"2021","unstructured":"Li X, Kumar S, Harmanci A, et al. Whole-genome sequencing of phenotypically distinct inflammatory breast cancers reveals similar genomic alterations to non-inflammatory breast cancers. Genome Med. 2021;13(1):70. https:\/\/doi.org\/10.1186\/s13073-021-00879-x.","journal-title":"Genome Med"},{"issue":"14","key":"7027_CR52","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows-wheeler transform. Bioinformatics (Oxford, England). 2009;25(14):1754\u201360. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324.","journal-title":"Bioinformatics (Oxford, England)"},{"issue":"16","key":"7027_CR53","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment\/map format and SAMtools. Bioinformatics. 2009;25(16):2078\u20139. https:\/\/doi.org\/10.1093\/bioinformatics\/btp352.","journal-title":"Bioinformatics"},{"issue":"2","key":"7027_CR54","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","volume":"100","author":"Q Li","year":"2017","unstructured":"Li Q, Wang K. Intervar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet. 2017;100(2):267\u201380. https:\/\/doi.org\/10.1016\/j.ajhg.2017.01.004.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"7027_CR55","doi-asserted-by":"publisher","DOI":"10.1186\/s13058-018-1007-x","volume":"20","author":"X Liang","year":"2018","unstructured":"Liang X, Vacher S, Boulai A, et al. Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer. Breast Cancer Res. 2018;20(1):88. https:\/\/doi.org\/10.1186\/s13058-018-1007-x.","journal-title":"Breast Cancer Res"},{"issue":"8","key":"7027_CR56","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1038\/s41568-018-0010-y","volume":"18","author":"B Lim","year":"2018","unstructured":"Lim B, Woodward WA, Wang X, Reuben JM, Ueno NT. Inflammatory breast cancer biology: the tumour microenvironment is key. Nat Rev Cancer. 2018;18(8):485\u201399. https:\/\/doi.org\/10.1038\/s41568-018-0010-y.","journal-title":"Nat Rev Cancer"},{"issue":"1","key":"7027_CR57","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1007\/s10549-018-05126-3","volume":"175","author":"Y Liu","year":"2019","unstructured":"Liu Y, Pandey PR, Sharma S, Xing F, Wu K, Chittiboyina A, et al. ID2 and GJB2 promote early-stage breast cancer progression by regulating cancer stemness. Breast Cancer Res Treat. 2019;175(1):77\u201390. https:\/\/doi.org\/10.1007\/s10549-018-05126-3.","journal-title":"Breast Cancer Res Treat"},{"issue":"1","key":"7027_CR58","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1002\/humu.23900","volume":"41","author":"L Zhang","year":"2020","unstructured":"Zhang L, Walsh MF, Jairam S, Mandelker D, Zhong Y, Kemel Y, et al. Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. Hum Mutat. 2020;41(1):103\u20139. https:\/\/doi.org\/10.1002\/humu.23900.","journal-title":"Hum Mutat"},{"issue":"10","key":"7027_CR59","volume":"2","author":"MJ Loza","year":"2007","unstructured":"Loza MJ, McCall CE, Li L, Isaacs WB, Xu J, Chang BL. Assembly of inflammation-related genes for pathway-focused genetic analysis. PLoS ONE. 2007;2(10):e1035.","journal-title":"PLoS ONE"},{"key":"7027_CR60","unstructured":"Lougaris V, Vitali M, Baronio M, Tampella G, Bergbreiter A, Salzer U, ... & Plebani A. Genetic analysis of the tnfrsf13b gene in a large Italian cvid cohort. J Clin Immunol. 2012;32:254\u2013255."},{"issue":"1","key":"7027_CR61","doi-asserted-by":"publisher","DOI":"10.1038\/s41523-021-00278-w","volume":"7","author":"R Luo","year":"2021","unstructured":"Luo R, Chong W, Wei Q, et al. Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer. NPJ Breast Cancer. 2021;7(1):72. https:\/\/doi.org\/10.1038\/s41523-021-00278-w.","journal-title":"NPJ Breast Cancer"},{"issue":"2","key":"7027_CR62","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1007\/s11033-011-0829-8","volume":"39","author":"W Mahfoudh","year":"2012","unstructured":"Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, et al. Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. Mol Biol Rep. 2012;39(2):1037\u201346. https:\/\/doi.org\/10.1007\/s11033-011-0829-8.","journal-title":"Mol Biol Rep"},{"issue":"5\u20136","key":"7027_CR63","doi-asserted-by":"publisher","first-page":"129","DOI":"10.14740\/wjon1161","volume":"9","author":"F Mamouch","year":"2018","unstructured":"Mamouch F, Berrada N, Aoullay Z, El Khanoussi B, Errihani H. Inflammatory breast cancer: a literature review. World J Oncol. 2018;9(5\u20136):129\u201335. https:\/\/doi.org\/10.14740\/wjon1161.","journal-title":"World J Oncol"},{"issue":"2","key":"7027_CR64","doi-asserted-by":"publisher","first-page":"223","DOI":"10.3892\/mco.2018.1773","volume":"10","author":"M Manai","year":"2019","unstructured":"Manai M, Finetti P, Mejri N, Athimni S, Birnbaum D, Bertucci F, et al. Inflammatory breast cancer in 210 patients: a retrospective study on epidemiological, anatomo-clinical features and therapeutic results. Mol Clin Oncol. 2019;10(2):223\u201330. https:\/\/doi.org\/10.3892\/mco.2018.1773.","journal-title":"Mol Clin Oncol"},{"issue":"9","key":"7027_CR65","doi-asserted-by":"publisher","first-page":"1437","DOI":"10.1093\/annonc\/mdz192","volume":"30","author":"J Mateo","year":"2019","unstructured":"Mateo J, Lord CJ, Serra V, Tutt A, Balma\u00f1a J, Castroviejo-Bermejo M, et al. A decade of clinical development of PARP inhibitors in perspective. Ann Oncol. 2019;30(9):1437\u201347. https:\/\/doi.org\/10.1093\/annonc\/mdz192.","journal-title":"Ann Oncol"},{"issue":"22","key":"7027_CR66","doi-asserted-by":"publisher","first-page":"3427","DOI":"10.1038\/sj.onc.1202692","volume":"18","author":"M Matsuda","year":"1999","unstructured":"Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, et al. Mutations in the RAD54 recombination gene in primary cancers. Oncogene. 1999;18(22):3427\u201330. https:\/\/doi.org\/10.1038\/sj.onc.1202692.","journal-title":"Oncogene"},{"key":"7027_CR67","doi-asserted-by":"publisher","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-303. https:\/\/doi.org\/10.1101\/gr.107524.","DOI":"10.1101\/gr.107524"},{"key":"7027_CR68","doi-asserted-by":"publisher","DOI":"10.7314\/apjcp.2015.16.3.1277","author":"N Mejri","year":"2015","unstructured":"Mejri N, Boussen H, Labidi S, Bouzaiene H, Afrit M, Benna F, et al. Inflammatory breast cancer in Tunisia from 2005 to 2010: epidemiologic and anatomoclinical transitions from published data. Asian Pac J Cancer Prev. 2015. https:\/\/doi.org\/10.7314\/apjcp.2015.16.3.1277.","journal-title":"Asian Pac J Cancer Prev"},{"key":"7027_CR69","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.552971","volume":"11","author":"N Mighri","year":"2020","unstructured":"Mighri N, Hamdi Y, Boujemaa M, Othman H, Ben Nasr S, El Benna H, et al. Identification of novel BRCA1 and RAD50 mutations associated with breast cancer predisposition in Tunisian patients. Front Genet. 2020;11:552971. https:\/\/doi.org\/10.3389\/fgene.2020.552971.","journal-title":"Front Genet"},{"issue":"12","key":"7027_CR70","doi-asserted-by":"publisher","first-page":"1645","DOI":"10.1038\/s41431-020-0675-z","volume":"28","author":"JM Moreno-Cabrera","year":"2020","unstructured":"Moreno-Cabrera JM, Del Valle J, Castellanos E, Feliubadal\u00f3 L, Pineda M, Brunet J, et al. Evaluation of CNV detection tools for NGS panel data in genetic diagnostics. Eur J Hum Genet. 2020;28(12):1645\u201355. https:\/\/doi.org\/10.1038\/s41431-020-0675-z.","journal-title":"Eur J Hum Genet"},{"key":"7027_CR71","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.34.15_suppl.1515","author":"K Offit","year":"2016","unstructured":"Offit K, Schrader KA, Maxwell KN, Vijai J, Hart S, Thomas T, et al. Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing. J Clin Oncol. 2016. https:\/\/doi.org\/10.1200\/JCO.2016.34.15_suppl.1515.","journal-title":"J Clin Oncol"},{"key":"7027_CR72","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1146\/annurev-immunol-032712-095946","volume":"31","author":"K Okkenhaug","year":"2013","unstructured":"Okkenhaug K. Signaling by the phosphoinositide 3-kinase family in immune cells. Annu Rev Immunol. 2013;31:675\u2013704. https:\/\/doi.org\/10.1146\/annurev-immunol-032712-095946.","journal-title":"Annu Rev Immunol"},{"issue":"2","key":"7027_CR73","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1093\/bioinformatics\/btv566","volume":"32","author":"K Okonechnikov","year":"2016","unstructured":"Okonechnikov K, Conesa A, Garc\u00eda-Alcalde F. Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data. Bioinformatics. 2016;32(2):292\u20134. https:\/\/doi.org\/10.1093\/bioinformatics\/btv566.","journal-title":"Bioinformatics"},{"issue":"14","key":"7027_CR74","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20143442","volume":"20","author":"P Concolino","year":"2019","unstructured":"Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E. BRCA1 and BRCA2 testing through next generation sequencing in a small cohort of Italian breast\/ovarian cancer patients: novel pathogenic and unknown clinical significance variants. Int J Mol Sci. 2019;20(14):3442. https:\/\/doi.org\/10.3390\/ijms20143442.","journal-title":"Int J Mol Sci"},{"issue":"4","key":"7027_CR75","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1016\/j.ajhg.2012.02.027","volume":"90","author":"DJ Park","year":"2012","unstructured":"Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet. 2012;90(4):734\u20139. https:\/\/doi.org\/10.1016\/j.ajhg.2012.02.027.","journal-title":"Am J Hum Genet"},{"issue":"49","key":"7027_CR76","doi-asserted-by":"crossref","first-page":"49","DOI":"10.12688\/wellcomeopenres.11548.1","volume":"2","author":"A Parrish","year":"2017","unstructured":"Parrish A, Caswell R, Jones G, Watson CM, Crinnion LA, Ellard S. An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth. Wellcome Open Res. 2017;2(49):49.","journal-title":"Wellcome Open Res"},{"key":"7027_CR77","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms2613","volume":"4","author":"J Permuth-Wey","year":"2013","unstructured":"Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, et al. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun. 2013;4:1627. https:\/\/doi.org\/10.1038\/ncomms2613.","journal-title":"Nat Commun"},{"key":"7027_CR78","doi-asserted-by":"publisher","first-page":"2960","DOI":"10.1016\/j.csbj.2021.05.015","volume":"19","author":"J Pi\u00f1ero","year":"2021","unstructured":"Pi\u00f1ero J, Sa\u00fcch J, Sanz F, Furlong LI. The disGeNET cytoscape app: exploring and visualizing disease genomics data. Comput Struct Biotechnol J. 2021;19:2960\u20137. https:\/\/doi.org\/10.1016\/j.csbj.2021.05.015.","journal-title":"Comput Struct Biotechnol J"},{"issue":"13","key":"7027_CR79","doi-asserted-by":"publisher","first-page":"2194","DOI":"10.1002\/cncr.32062","volume":"125","author":"HQ Rana","year":"2019","unstructured":"Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, et al. Prevalence of germline variants in inflammatory breast cancer. Cancer. 2019;125(13):2194\u2013202. https:\/\/doi.org\/10.1002\/cncr.32062.","journal-title":"Cancer"},{"issue":"1","key":"7027_CR80","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.gene.2013.04.078","volume":"525","author":"Z Riahi","year":"2013","unstructured":"Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, et al. Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. Gene. 2013;525(1):1\u20134. https:\/\/doi.org\/10.1016\/j.gene.2013.04.078.","journal-title":"Gene"},{"key":"7027_CR81","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2019.101299","volume":"43","author":"D Saleiro","year":"2019","unstructured":"Saleiro D, Platanias LC. Interferon signaling in cancer. Non-canonical pathways and control of intracellular immune checkpoints. Semin Immunol. 2019;43:101299. https:\/\/doi.org\/10.1016\/j.smim.2019.101299.","journal-title":"Semin Immunol"},{"key":"7027_CR82","doi-asserted-by":"publisher","unstructured":"Salzer U, Bacchelli C, Buckridge S, Pan-Hammarstr\u00f6m Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Sch\u00e4ffer AA, Hammarstr\u00f6m L, Thrasher AJ, Gaspar HB, Grimbacher B. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood. 2009;113(9):1967-76. https:\/\/doi.org\/10.1182\/blood-2008-02-141937.","DOI":"10.1182\/blood-2008-02-141937"},{"issue":"6","key":"7027_CR83","doi-asserted-by":"publisher","first-page":"3645","DOI":"10.3892\/or.2018.6764","volume":"40","author":"A Shettar","year":"2018","unstructured":"Shettar A, Damineni S, Mukherjee G, Kondaiah P. Gap junction \u03b2-2 expression is negatively associated with the estrogen receptor status in breast cancer tissues and is a regulator of breast tumorigenesis. Oncol Rep. 2018;40(6):3645\u201353. https:\/\/doi.org\/10.3892\/or.2018.6764.","journal-title":"Oncol Rep"},{"issue":"2","key":"7027_CR84","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/ejhg.2008.154","volume":"17","author":"HA Siitonen","year":"2009","unstructured":"Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009;17(2):151\u20138. https:\/\/doi.org\/10.1038\/ejhg.2008.154.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"7027_CR85","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1186\/s12885-018-4634-9","volume":"18","author":"M Slaoui","year":"2018","unstructured":"Slaoui M, Zoure AA, Mouh FZ, Bensouda Y, El Mzibri M, Bakri Y, et al. Outcome of inflammatory breast cancer in Moroccan patients: clinical, molecular and pathological characteristics of 219 cases from the National Oncology Institute (INO). BMC Cancer. 2018;18(1):713. https:\/\/doi.org\/10.1186\/s12885-018-4634-9.","journal-title":"BMC Cancer"},{"issue":"2","key":"7027_CR86","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.canlet.2010.12.020","volume":"302","author":"S Solyom","year":"2011","unstructured":"Solyom S, Winqvist R, Nikkil\u00e4 J, Rapakko K, Hirvikoski P, Kokkonen H, et al. Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family. Cancer Lett. 2011;302(2):113\u20138. https:\/\/doi.org\/10.1016\/j.canlet.2010.12.020.","journal-title":"Cancer Lett"},{"issue":"Suppl 2","key":"7027_CR87","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-2722-2","volume":"17","author":"G Stelzer","year":"2016","unstructured":"Stelzer G, Plaschkes I, Oz-Levi D, Alkelai A, Olender T, Zimmerman S, et al. VarElect: the phenotype-based variation prioritizer of the GeneCards suite. BMC Genomics. 2016;17(Suppl 2):444. https:\/\/doi.org\/10.1186\/s12864-016-2722-2.","journal-title":"BMC Genomics"},{"issue":"2","key":"7027_CR88","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1016\/j.ygyno.2019.01.027","volume":"153","author":"M Suszynska","year":"2019","unstructured":"Suszynska M, Klonowska K, Jasinska AJ, Kozlowski P. Large-scale meta-analysis of mutations identified in panels of breast\/ovarian cancer-related genes - providing evidence of cancer predisposition genes. Gynecol Oncol. 2019;153(2):452\u201362. https:\/\/doi.org\/10.1016\/j.ygyno.2019.01.027.","journal-title":"Gynecol Oncol"},{"key":"7027_CR89","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-023-00674-9","volume":"18","author":"G Terzioglu","year":"2023","unstructured":"Terzioglu G, Young-Pearse TL. Microglial function, INPP5D\/SHIP1 signaling, and NLRP3 inflammasome activation: implications for Alzheimer\u2019s disease. Mol Neurodegener. 2023;18:89. https:\/\/doi.org\/10.1186\/s13024-023-00674-9.","journal-title":"Mol Neurodegener"},{"issue":"2","key":"7027_CR90","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/s41416-018-0127-5","volume":"119","author":"NM Tung","year":"2018","unstructured":"Tung NM, Garber JE. BRCA 1\/2 testing: therapeutic implications for breast cancer management. Br J Cancer. 2018;119(2):141\u201352.","journal-title":"Br J Cancer"},{"issue":"9","key":"7027_CR91","doi-asserted-by":"publisher","first-page":"2479","DOI":"10.3390\/cancers12092479","volume":"12","author":"X Wang","year":"2020","unstructured":"Wang X, Semba T, Phi LTH, Chainitikun S, Iwase T, Lim B, et al. Targeting signaling pathways in inflammatory breast cancer. Cancers. 2020;12(9):2479. https:\/\/doi.org\/10.3390\/cancers12092479.","journal-title":"Cancers"},{"issue":"3","key":"7027_CR92","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1023\/B:CACO.0000024222.61114.18","volume":"15","author":"PA Wingo","year":"2004","unstructured":"Wingo PA, Jamison PM, Young JL, Gargiullo P. Population-based statistics for women diagnosed with inflammatory breast cancer (United States). Cancer Causes & Control: CCC. 2004;15(3):321\u20138. https:\/\/doi.org\/10.1023\/B:CACO.0000024222.61114.18.","journal-title":"Cancer Causes & Control: CCC"},{"issue":"1","key":"7027_CR93","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1186\/s12894-022-01141-1","volume":"22","author":"Y Yang","year":"2022","unstructured":"Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, et al. The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk. BMC Urol. 2022;22(1):196. https:\/\/doi.org\/10.1186\/s12894-022-01141-1.","journal-title":"BMC Urol"},{"issue":"4","key":"7027_CR94","doi-asserted-by":"publisher","DOI":"10.1002\/cai2.128","volume":"3","author":"D Zhang","year":"2024","unstructured":"Zhang D, Li L, Ma F. Integrative analyses identified gap junction beta-2 as a prognostic biomarker and therapeutic target for breast cancer. Cancer Innovation. 2024;3(4):e128. https:\/\/doi.org\/10.1002\/cai2.128.","journal-title":"Cancer Innovation"},{"issue":"7","key":"7027_CR95","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1158\/0008-5472.CAN-20-0177","volume":"81","author":"P Zhang","year":"2021","unstructured":"Zhang P, Kitchen-Smith I, Xiong L, Stracquadanio G, Brown K, Richter PH, et al. Germline and somatic genetic variants in the p53 pathway interact to affect cancer risk, progression, and drug response. Cancer Res. 2021;81(7):1667\u201380.","journal-title":"Cancer Res"}],"container-title":["Journal of Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-025-07027-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12967-025-07027-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-025-07027-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T14:55:09Z","timestamp":1760453709000},"score":1,"resource":{"primary":{"URL":"https:\/\/translational-medicine.biomedcentral.com\/articles\/10.1186\/s12967-025-07027-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,14]]},"references-count":95,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["7027"],"URL":"https:\/\/doi.org\/10.1186\/s12967-025-07027-8","relation":{},"ISSN":["1479-5876"],"issn-type":[{"value":"1479-5876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,14]]},"assertion":[{"value":"11 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted according to the Declaration of Helsinki Principles and ethical approval was obtained from the biomedical ethics committee of the Institut Pasteur de Tunis (2020\/22\/I\/LR16IPT.). Written informed consent was obtained from all participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication was obtained from all participants in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"1089"}}