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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Management based on genetic test results for CDH1 and CTNNA1 (hereditary diffuse gastric cancer syndrome genes)

Management based on genetic test results for CDH1 and CTNNA1 (hereditary diffuse gastric cancer syndrome genes)
Hereditary diffuse gastric cancer (HDGC) syndrome is a heritable syndrome that can cause gastric cancer (the diffuse subtype), breast cancer (lobular subtype), and other findings (cleft lip, cleft palate). Appropriate genetic testing and diagnosis is critical for management, which may involve risk-reducing surgery. Involvement of a genetics professional, oncologist, and/or surgeon with appropriate expertise is paramount.
CDH1: cadherin-1 gene; CTNNA1: alpha-1 catenin gene.
* Indications for genetic testing for CDH1 and CTNNA1 may include:
  • Personal history:
    • Diffuse gastric cancer, gastric in situ signet ring cells, or pagetoid spread of signet ring cells in the stomach at <50 years.
    • Diffuse gastric cancer at any age if Māori ancestry or if there is a personal or family history of cleft lip/palate.
    • Bilateral lobular breast cancer or diffuse gastric cancer plus lobular breast cancer at <70 years.
  • Family history (related first- or second-degree relatives):
    • Gastric cancer in 2 or more individuals, one diffuse.
    • One or more diffuse gastric cancer at any age plus one or more lobular breast cancer in a different individual <70 years.
    • Lobular breast cancer in 2 or more individuals <50 years.
    • Known pathogenic variant in CDH1 or CTNNA1.
Patients without a specific indication for genetic testing may be found to have a CDH1 or CTNNA1 variant through multigene panel testing.
Adapted from: Blair VR, McLeod M, Carneiro F, et al. Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol 2020; 21:e386.
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