Prophylactic Total Gastrectomy: How Many?

  • Chapter
  • First Online:
Hereditary Gastric and Breast Cancer Syndrome

Abstract

Individuals with CDH1 germline mutations are at high risk of develo** diffuse gastric cancer and prophylactic total gastrectomy represents the only life-saving treatment. Literature has reported a total of 224 surgical procedure in high-risk individuals, associated with germline CDH1 pathogenic mutations. The majority were described in the USA, the Netherlands, and Canada. Gastric tumor was identified in almost 85.4% of cases after prophylactic surgery, and a high rate of “no cancer” at histopathology was identified in the USA. Considering the mutation type, most of alterations were nonmissense versus missense sub-types. In this chapter, we will describe the penetrance risks for gastric cancer in CDH1 carriers and their implication for prophylactic gastrectomy.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
EUR 29.95
Price includes VAT (Germany)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
EUR 149.79
Price includes VAT (Germany)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
EUR 192.59
Price includes VAT (Germany)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info
Hardcover Book
EUR 192.59
Price includes VAT (Germany)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Pedrazzani C, Corso G, Marrelli D et al (2007) E-cadherin and hereditary diffuse gastric cancer. Surgery 142(5):645–657. https://doi.org/10.1016/j.surg.2007.06.006

    Article  PubMed  Google Scholar 

  2. Kluijt I, Siemerink EJ, Ausems MG et al (2012) CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer 131(2):367–376. https://doi.org/10.1002/ijc.26398

    Article  CAS  PubMed  Google Scholar 

  3. Blair VR, McLeod M, Carneiro F et al (2020) Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol 21(8):e386–e397. https://doi.org/10.1016/S1470-2045(20)30219-9

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Caldas C, Carneiro F, Lynch HT et al (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36(12):873–880. https://doi.org/10.1136/jmg.36.12.873

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Corso G, Corso F, Ballerba F et al (2021) Geographical distribution of E-cadherin germline mutations in the context of diffuse gastric cancer: a systematic review. Cancers 13(6):1269. https://doi.org/10.3390/cancers13061269

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. van der Post RS, Vogelaar IP, Carneiro F et al (2015) Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 52:361e374. https://doi.org/10.1136/jmedgenet-2015-103094

    Article  CAS  Google Scholar 

  7. Hansford S, Kaurah P, Li-Chang H et al (2015) Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol 1(1):23–32. https://doi.org/10.1001/jamaoncol.2014.168

    Article  PubMed  Google Scholar 

  8. Roberts ME, Ranola JM, Marshall ML et al (2019) Comparison of CDH1 penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers. JAMA Oncol 5(9):1325–1331. https://doi.org/10.1001/jamaoncol.2019.1208

    Article  PubMed  PubMed Central  Google Scholar 

  9. **cola RM, Li S, Rodriguez N, Reinecke P et al (2019) Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. J Med Genet 56(12):838–843. https://doi.org/10.1136/jmedgenet-2019-105991

    Article  CAS  PubMed  Google Scholar 

  10. Corso G, Montagna G, Figueiredo J et al (2020) Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: a multidisciplinary clinical 232 review. Cancers 12(6):1598. https://doi.org/10.3390/cancers12061598

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Corso G (2022) Pleiotropic cancer manifestations of germline CDH1 mutations: risks and management. J Surg Oncol. https://doi.org/10.1002/jso.26847

  12. DiBrito SR, Blair AB, Prasath V et al (2020) Total gastrectomy for CDH-1 mutation carriers: an institutional experience. J Surg Res 247:438e444. https://doi.org/10.1016/j.jss.2019.09.062

    Article  CAS  Google Scholar 

  13. Hamilton JG, Long JM, Brandt AC et al (2019) Patients’ medical and psychosocial experiences after detection of a CDH1 variant with multigene panel testing. JCO Precis Oncol 3:PO.18.00300. https://doi.org/10.1200/PO.18.00300

    Article  PubMed  PubMed Central  Google Scholar 

  14. Katona BW, Farengo Clark D, Domchek SM (2020) CDH1 on multigene panel testing: look before you leap. J Natl Cancer Inst 112:330e334. https://doi.org/10.1093/jnci/djz229

    Article  Google Scholar 

  15. Corso G, Intra M, Trentin C et al (2016) CDH1 germline mutations and hereditary lobular breast cancer. Familial Cancer 15:215e219. https://doi.org/10.1007/s10689-016-9869-5

    Article  CAS  Google Scholar 

  16. Corso G, Figueiredo J, La Vecchia C et al (2018) Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect. J Med Genet 55:431e441. https://doi.org/10.1136/jmedgenet-2018-105337

    Article  CAS  Google Scholar 

  17. Corso G, Magnoni F, Nicastro V et al (2022) Global distribution of prophylactic total gastrectomy in E-cadherin (CDH1) mutations. Semin Oncol 49:130

    Article  CAS  PubMed  Google Scholar 

  18. Corso G, Marrelli D, Pascale V et al (2012) Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature. BMC Cancer 6(12):8. https://doi.org/10.1186/1471-2407-12-8

    Article  CAS  Google Scholar 

  19. Stewart DR, Frone MN, Chanock SJ (2020) Stomaching multigene panel testing: what to do about CDH1? J Natl Cancer Inst 112(1):325–326. https://doi.org/10.1093/jnci/djz230

    Article  PubMed  Google Scholar 

  20. Lee K, Krempely K, Roberts ME et al (2018) Specifications of the ACMG/AMP variant 254 curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat 39(11):1553–1568. https://doi.org/10.1002/humu.23650

    Article  PubMed  PubMed Central  Google Scholar 

  21. Corso G (2020) Letter regarding: is prophylactic Total gastrectomy always indicated in CDH1 germline mutant carriers? J Surg Res 255:647–648. https://doi.org/10.1016/j.jss.2020.02.022

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Giovanni Corso .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2023 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Ferrara, F., Massari, G., Tagliaferri, V., Corso, G. (2023). Prophylactic Total Gastrectomy: How Many?. In: Corso, G., Veronesi, P., Roviello, F. (eds) Hereditary Gastric and Breast Cancer Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-031-21317-5_16

Download citation

Publish with us

Policies and ethics

Navigation