Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Chek2 gene"'
Autor:
Ryan A. Hotchkiss, BS, Felix Yang, BS, Mary Beth Gadarowski, MD, Michael P. Orejudos, MD, Carolyn A. Hardin Robinson, DO
Publikováno v:
JAAD Case Reports, Vol 47, Iss , Pp 64-67 (2024)
Externí odkaz:
https://doaj.org/article/6d46c87652ce4931a98a314ff58423b0
Autor:
Milica Perosevic, MD, Maria Martinez-Lage, MD, Brooke Swearingen, MD, Nicholas A. Tritos, MD, DSc
Publikováno v:
AACE Clinical Case Reports, Vol 8, Iss 2, Pp 85-88 (2022)
Background/Objective: CHEK2 is a cell-cycle checkpoint kinase and is part of the ATM-CHEK2-p53 cascade, which is protective against carcinogenesis. We describe a germline CHEK2 mutation in a patient with acromegaly and other tumors. Case Report: We p
Externí odkaz:
https://doaj.org/article/d43986464358489bb16df90a7ef7f631
Publikováno v:
Успехи молекулярной онкологии, Vol 8, Iss 1, Pp 26-31 (2021)
Introduction. Currently, there are conflicting data regarding the effect of the c.470T> C germline mutation in the CHEK2 gene on increasing the risk of breast cancer (BC), so it is necessary to conduct research on large samples of patients, including
Externí odkaz:
https://doaj.org/article/dd341ac4d3fa4c108f4c5c670351d642
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction:CHEK2 (Checkpoint kinase 2) germline mutations were associated with an elevated risk of breast cancer, colorectal cancer, and other familiar cancers. Loss-of-function variants in CHEK2 are known to be pathogenic. Germline CHEK2 mutations
Externí odkaz:
https://doaj.org/article/012d6a060aff437d9b1d61ba542ea1f9
Akademický článek
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Publikováno v:
Сибирский онкологический журнал, Vol 17, Iss 2, Pp 82-88 (2018)
Uveal melanoma (UM) is the most common primary intra-ocular malignancy. Uveal melanoma is distinct from other subtypes of melanoma by its molecular and genetic characteristics. Somatic mutations in UM tumor involve genes, such as BAP1, EIF1AX, GNA11,
Externí odkaz:
https://doaj.org/article/89261e988f3543238515fb4881b5dfcb
Autor:
Plonis J, Kalniete D, Nakazawa-Miklasevica M, Irmejs A, Vjaters E, Gardovskis J, Miklasevics E
Publikováno v:
Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 33-36 (2015)
Our objective was to determine: 1) whether the checkpoint kinase 2 (CHEK2) del5395 (g.27417113-27422508 del, NC_000022.11) is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and cancer risk,
Externí odkaz:
https://doaj.org/article/b168b5052d14442d88ccc607c341d32d
Autor:
Barbara Gazic, Tea Nizic-Kos, Vida Stegel, Nikola Besic, Srdjan Novaković, Ana Blatnik, Petra Škerl, Mateja Krajc
Publikováno v:
Annals of Surgical Oncology. 28:2561-2570
Currently, data on pathogenic variants in the CHEK2 gene and their impact on cancer risk are lacking. This study aimed to explore the characteristics of breast cancer (BC) patients from families with CHEK2 pathogenic variants in Slovenia. In the year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65a6b052e99692c579106d5586020e8e
https://doi.org/10.1245/s10434-020-09178-y
https://doi.org/10.1245/s10434-020-09178-y
Publikováno v:
Molecular pathology and functional genomics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d264556ba430fd7a9264c9678e0fb0b7
https://doi.org/10.1183/13993003.congress-2021.pa662
https://doi.org/10.1183/13993003.congress-2021.pa662
Akademický článek
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