2021
DOI: 10.21037/acr-20-83
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CHEK2 mutation in a patient with pancreatic adenocarcinoma—a rare case report

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Cited by 4 publications
(3 citation statements)
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“…CHEK2 is a multi-organ cancer predisposition gene playing an important role in cell cycle regulation and DNA damage repair, two processes involved in cancer development and response to treatment (Cybulski et al 2004 ). Recently, the Cancer Genome Atlas (TCGA) Research Network reported that CHEK2 mutations were observed in 0.7% of PanC patients (Vittal et al 2021 ). CHEK2 mutations are rare and associated with modest penetrance, so very large sample sizes are needed to identify significant relative risks (Cybulski et al 2004 ); in addition, the presence of many VUS makes sometimes it difficult to reach a conclusive genetic interpretation.…”
Section: Discussionmentioning
confidence: 99%
“…CHEK2 is a multi-organ cancer predisposition gene playing an important role in cell cycle regulation and DNA damage repair, two processes involved in cancer development and response to treatment (Cybulski et al 2004 ). Recently, the Cancer Genome Atlas (TCGA) Research Network reported that CHEK2 mutations were observed in 0.7% of PanC patients (Vittal et al 2021 ). CHEK2 mutations are rare and associated with modest penetrance, so very large sample sizes are needed to identify significant relative risks (Cybulski et al 2004 ); in addition, the presence of many VUS makes sometimes it difficult to reach a conclusive genetic interpretation.…”
Section: Discussionmentioning
confidence: 99%
“…67,90 The missense variant I157T and germline mutations in CHK2 gene are involved in the development of colon cancer and pancreatic cancer. 68,69 PTEN inhibits Akt function which leads to the restriction of Mdm2 to enter into cytoplasm that eventually promotes p53 activation. Functional variations and nonsense mutations in PTEN gene were observed in gastric cancer.…”
Section: Genementioning
confidence: 99%
“…The germline mutations in CHK2 were observed in biliary cancer and the missense variants were observed in gastric cancer 67,90 . The missense variant I157T and germline mutations in CHK2 gene are involved in the development of colon cancer and pancreatic cancer 68,69 . PTEN inhibits Akt function which leads to the restriction of Mdm2 to enter into cytoplasm that eventually promotes p53 activation.…”
Section: P53‐mdm2 Axis Dynamicsmentioning
confidence: 99%