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Genetic Counselling and Prevention in Families at High Risk for HDGC and Other Hereditary Syndromes

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Hereditary Gastric and Breast Cancer Syndrome

Abstract

Genetic counselling is a structured process that involves several steps: identification of the individuals in which it can be indicated to perform genetic testing in relation to their personal and family history, explanation to candidates of the meaning of genetic testing for themselves and family members, and, if the test is performed, communication of the result and discussion about its implications.

The diagnosis of a hereditary cancer predisposition syndrome allows to define personalized preventive options for at-risk individuals, healthy or affected by cancer. The discussion of preventive options requires a multidisciplinary approach, which considers current clinical practice recommendations, the patient’s clinical status and wishes, but also family history.

The identification of at-risk individuals with a little or no family history of cancer represents a challenge in terms of oncological risk definition and clinical management.

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References

  1. Oliveira C, Pinheiro H, Figueiredo J et al (2015) Familial gastric cancer: genetic susceptibility, pathology, and implications for management. Lancet Oncol 16(2):e60–e70. https://doi.org/10.1016/S1470-2045(14)71016-2

    Article  PubMed  Google Scholar 

  2. Petrovchich I, Ford JM (2016) Genetic predisposition to gastric cancer. Semin Oncol 43(5):554–559. https://doi.org/10.1053/j.seminoncol.2016.08.006

    Article  CAS  PubMed  Google Scholar 

  3. Margolin S, Johansson H, Rutqvist LE et al (2006) Family history, and impact on clinical presentation and prognosis, in a population-based breast cancer cohort from the Stockholm County. Familial Cancer 5:309–321. https://doi.org/10.1007/s10689-006-7851-3

    Article  PubMed  Google Scholar 

  4. Kleibl Z, Kristensen VN (2016) Women at high risk of breast cancer: molecular characteristics, clinical presentation and management. Breast 28:136–144. https://doi.org/10.1016/j.breast.2016.05.006

    Article  PubMed  Google Scholar 

  5. 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 

  6. 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(7):431–441. https://doi.org/10.1136/jmedgenet-2018-105337

    Article  CAS  PubMed  Google Scholar 

  7. Guilford P, Hopkins J, Harraway J et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405. https://doi.org/10.1038/32918

    Article  CAS  PubMed  Google Scholar 

  8. 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(6):361–374. https://doi.org/10.1136/jmedgenet-2015-103094

    Article  CAS  PubMed  Google Scholar 

  9. Kerber RA, Slattery ML (1997) Comparison of self-reported and database-linked family history of cancer data in a case-control study. Am J Epidemiol 146:244–248. https://doi.org/10.1093/oxfordjournals.aje.a009259

    Article  CAS  PubMed  Google Scholar 

  10. Murff HJ, Spigel DR, Syngal S (2004) Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 292:1480–1489. https://doi.org/10.1001/jama.292.12.1480

    Article  CAS  PubMed  Google Scholar 

  11. Flint ND, Bishop MD, Smart TC et al (2021) Low accuracy of self-reported family history of melanoma in high-risk patients. Fam Cancer 20(1):41–48. https://doi.org/10.1007/s10689-020-00187-0

    Article  PubMed  Google Scholar 

  12. Yen T, Stanich PP, Axell L, et al (1998) APC-associated polyposis conditions. In: GeneReviews® [Internet]. University of Washington, Seattle; 1993–2022. 1998 Dec 18 [updated 2022 May 12]. Bookshelf ID: NBK1345

    Google Scholar 

  13. Frebourg T, Lagercrantz SB, Oliveira C et al (2020) Guidelines for the li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet 28(10):1379–1386. https://doi.org/10.1038/s41431-020-0638-4

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Gullo I, Devezas V, Baptista M et al (2018) Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease. Gastrointest Endosc 87:1566–1575. https://doi.org/10.1016/j.gie.2018.02.008

    Article  PubMed  Google Scholar 

  15. Shimelis H, Mesman RLS, Von Nicolai C et al (2017) BRCA2 hypomorphic missense variants confer moderate risks of breast cancer. Cancer Res 77(11):2789–2799. https://doi.org/10.1158/0008-5472.CAN-16-2568

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Moghadasi S, Meeks HD, Vreeswijk MP et al (2018) The BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. J Med Genet 55(1):15–20. https://doi.org/10.1136/jmedgenet-2017-104560

    Article  CAS  PubMed  Google Scholar 

  17. Roberts ME, Ranola JMO, 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 

  18. Jakub JW, Peled AW, Gray RJ et al (2018) Oncologic safety of prophylactic nipple-sparing mastectomy in a population with BRCA mutations. JAMA Surg 153:123. https://doi.org/10.1001/jamasurg.2017.3422

    Article  PubMed  Google Scholar 

  19. Lowstuter K, Espenschied CR, Sturgeon D et al (2017) Unexpected CDH1 mutations identified on multigene panels pose clinical management challenges. JCO Precis Oncol 1:1–12. https://doi.org/10.1200/PO.16.00021

    Article  PubMed  Google Scholar 

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Correspondence to Bernardo Bonanni .

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Zanzottera, C., Bonanni, B. (2023). Genetic Counselling and Prevention in Families at High Risk for HDGC and Other Hereditary Syndromes. 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_4

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