{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:14:59Z","timestamp":1740147299154,"version":"3.37.3"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:00:00Z","timestamp":1723593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:00:00Z","timestamp":1723593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["No. ZR2023QH483"],"award-info":[{"award-number":["No. ZR2023QH483"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Breast cancer has emerged as the foremost cause of female mortality worldwide, with triple negative breast cancer accounting for approximately 10\u201315% of all breast cancer cases. The triple negative breast cancer family has obvious familial heritability, but no potential pathogenic variation was found in <jats:italic>BRCA1\/2<\/jats:italic>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The patient was a 56-year-old woman of Han ethnicity. The clinical characteristics of this patient with breast cancer were summarized, peripheral blood of one normal female and two patients with breast cancer in this family was collected, DNA was extracted, and the potential pathogenic variation was analyzed by whole exome sequencing. The normal female and two patients with breast cancer in this family shared a maternal grandmother. The proband\u2019s right breast mass was punctured, and the biopsy showed invasive carcinoma of the right breast, grade II\u2013III, with necrosis. No mutation was found in <jats:italic>BRCA1\/2<\/jats:italic> gene test; immunohistochemical of surgical specimens showed triple negative breast cancer. Three mutation types and 17 gene mutation sites were detected through bioinformatics prediction analysis on the basis of co-segregation of genotype and phenotype within the family and whole exome sequencing results. Combined with the Cancer Genome Atlas database comprehensive analysis, the <jats:italic>MT1E<\/jats:italic> c.G107A (p.C36Y) mutation may be a potential pathogenic site.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Through whole exome sequencing, we identified a total of 17 potential pathogenic mutation loci, none of which have been reported thus far. Therefore, our work expanded the gene mutation spectrum of familial hereditary triple negative breast cancer, which can provide more basis for family genetic counseling.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-024-04685-y","type":"journal-article","created":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:02:37Z","timestamp":1723593757000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical characteristics and genetic analysis of a case of a patient with familial hereditary breast cancer: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Yuan","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinglin","family":"Mao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Longquan","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Qu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,14]]},"reference":[{"issue":"3","key":"4685_CR1","doi-asserted-by":"publisher","first-page":"209","DOI":"10.3322\/caac.21660","volume":"71","author":"H Sung","year":"2021","unstructured":"Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, Bray F. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209\u201349.","journal-title":"CA Cancer J Clin"},{"key":"4685_CR2","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/j.cca.2013.12.004","volume":"429","author":"F Liu","year":"2014","unstructured":"Liu F, Huang Y, Liu L, Liang B, Qu Z, Huang G, Li C, Tian R, Jiang Z, Liu F, Yu X, Huang Y, Liu J, Tang Z. Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. Clin Chim Acta. 2014;429:129\u201333.","journal-title":"Clin Chim Acta"},{"issue":"4","key":"4685_CR3","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/s00018-002-8454-2","volume":"59","author":"P Coyle","year":"2002","unstructured":"Coyle P, Philcox JC, Carey LC, Rofe AM. Metallothionein: the multipurpose protein. Cell Mol Life Sci. 2002;59(4):627\u201347.","journal-title":"Cell Mol Life Sci"},{"issue":"4","key":"4685_CR4","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.3892\/ijo.2012.1570","volume":"41","author":"HH Ryu","year":"2012","unstructured":"Ryu HH, Jung S, Jung TY, Moon KS, Kim IY, Jeong YI, Jin SG, Pei J, Wen M, Jang WY. Role of metallothionein 1E in the migration and invasion of human glioma cell lines. Int J Oncol. 2012;41(4):1305\u201313.","journal-title":"Int J Oncol"},{"issue":"37","key":"4685_CR5","doi-asserted-by":"publisher","first-page":"61709","DOI":"10.18632\/oncotarget.18683","volume":"8","author":"R Demidenko","year":"2017","unstructured":"Demidenko R, Daniunaite K, Bakavicius A, Sabaliauskaite R, Skeberdyte A, Petroska D, Laurinavicius A, Jankevicius F, Lazutka JR, Jarmalaite S. Decreased expression of MT1E is a potential biomarker of prostate cancer progression. Oncotarget. 2017;8(37):61709\u201318.","journal-title":"Oncotarget"},{"issue":"11","key":"4685_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2020.153213","volume":"216","author":"Q Liu","year":"2020","unstructured":"Liu Q, Lu F, Chen Z. Identification of MT1E as a novel tumor suppressor in hepatocellular carcinoma. Pathol Res Pract. 2020;216(11): 153213.","journal-title":"Pathol Res Pract"},{"issue":"23","key":"4685_CR7","doi-asserted-by":"publisher","first-page":"15429","DOI":"10.3390\/ijms232315429","volume":"23","author":"I Sadzeviciene","year":"2022","unstructured":"Sadzeviciene I, Snipaitiene K, Scesnaite-Jerdiakova A, Daniunaite K, Sabaliauskaite R, Laurinaviciene A, Drobniene M, Ostapenko V, Jarmalaite S. Analysis of intrinsic breast cancer subtypes: the clinical utility of epigenetic biomarkers and TP53 mutation status in triple-negative cases. Int J Mol Sci. 2022;23(23):15429.","journal-title":"Int J Mol Sci"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04685-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-024-04685-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04685-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:02:49Z","timestamp":1723593769000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-024-04685-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,14]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4685"],"URL":"https:\/\/doi.org\/10.1186\/s13256-024-04685-y","relation":{},"ISSN":["1752-1947"],"issn-type":[{"type":"electronic","value":"1752-1947"}],"subject":[],"published":{"date-parts":[[2024,8,14]]},"assertion":[{"value":"4 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 August 2024","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 approved by the ethics committee of Jining No. 1 People\u2019s Hospital. The research protocols were conformed to the tenets of the Declaration of Helsinki. Informed consent for the participation was obtained from each subject.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patients for publication of this case report. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"368"}}