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Tytuł:
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Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms.
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Autorzy:
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Wang L; a The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences , Northwest University , Xi'an , PR China.; b Department of Oncology , the First Affiliated Hospital of Medical College, Xi'an Jiaotong University , Xi'an, PR China.
Wang H; a The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences , Northwest University , Xi'an , PR China.
Wang T; c Faculty of Pharmacy, School of Food and Biological Engineering , Shaanxi University of Science and Technology , Xi'an, PR China.
Liu J; d College of Medical Technology , Shanxi University of Chinese Medicine , Xianyang , PR China.
Chen W; e Medical Affairs Department , Zhongyuan Union Clinical Laborotory Co. Ltd , Tianjin , PR China.
Wang Y; a The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences , Northwest University , Xi'an , PR China.
Chen C; a The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences , Northwest University , Xi'an , PR China.
Zhu H; a The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences , Northwest University , Xi'an , PR China.
Dai P; a The National Engineering Research Center for Miniaturized Detection Systems, The College of Life Sciences , Northwest University , Xi'an , PR China.
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Źródło:
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Artificial cells, nanomedicine, and biotechnology [Artif Cells Nanomed Biotechnol] 2019 Dec; Vol. 47 (1), pp. 1101-1112.
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Typ publikacji:
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Case Reports; Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: 2015- : Abingdon, Oxford : Taylor & Francis
Original Publication: London : Informa Healthcare, [2013]-
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MeSH Terms:
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Polymorphism, Genetic*
BRCA1 Protein/*metabolism
BRCA2 Protein/*metabolism
Fanconi Anemia Complementation Group Proteins/*metabolism
Neoplasms, Multiple Primary/*genetics
Aged ; DNA Mutational Analysis ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Middle Aged ; Neoplasms, Multiple Primary/metabolism ; Software
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Contributed Indexing:
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Keywords: DNA damage repair; FA/BRCA pathway; Multiple primary malignant neoplasms; gene polymorphisms; second-generation whole-genome sequencing technology
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Substance Nomenclature:
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0 (BRCA1 Protein)
0 (BRCA2 Protein)
0 (Fanconi Anemia Complementation Group Proteins)
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Entry Date(s):
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Date Created: 20190404 Date Completed: 20190722 Latest Revision: 20190722
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Update Code:
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20240104
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DOI:
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10.1080/21691401.2019.1575846
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PMID:
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30942098
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Cases of more than three primary cancers are very rare. This study analyzed the genetic susceptibility of gene polymorphisms in three patients with multiple primary malignant neoplasms and examined the possible pathogenesis. The clinical data and whole genome sequence of three patients (1 with 5 primary cancers, 1 with 4 primary cancers, and 1 with 3 primary cancers) were aligned with a series of databases. We found the three patients contained a total of seven types of malignant tumours (endometrial cancer, ovarian cancer, breast cancer, colon cancer, ureter cancer, bladder cancer and kidney cancer). It was found that the varied genes in Patient 1 (5 primary cancers) were BRIP1, FANCG, NBN, AXIN2, SRD5A2, and CEBPA. Patient 2 (4 primary cancers) had variations in the following genes: BMPR1A, FANCD2, MLH3, BRCA2, and FANCM. Patient 3 (3 primary cancers) had variations in the following genes: MEN1, ATM, MSH3, BRCA1, FANCL, CEBPA, and FANCA. String software was used to analyze the KEGG pathway of the variations in these three samples, which revealed that the genes are involved in the Fanconi anaemia pathway. Defects in DNA damage repair may be one of the causes of multiple primary cancers.
