Advertisement

Genetic Counseling

  • Marie Met-Domestici
  • Anne E. MurphyEmail author
Chapter
Part of the Principles of Specialty Nursing book series (PSN)

Abstract

In this chapter, we describe briefly the cancer genetics field. Basic notions of genetics and mode of inheritance will be summarized first, in order to introduce clinical cancer genetic assessment and, finally, genetic counseling that should go along with any genetic testing.

Keywords

Cancer genetics Assessment Genetic counselling 

References

  1. 1.
    Paul Broca Traité des tumeurs, 1866.Google Scholar
  2. 2.
    Familial Cancer Prevalence Spanning Eight Years: Family N. Henry T. Lynch, MD. Arch Intern Med. 1974;134(5):931–938.CrossRefGoogle Scholar
  3. 3.
    Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene. 2004;23:6445–70.CrossRefGoogle Scholar
  4. 4.
    Biologie Moléculaire de la cellule, éditions DE BOECK.Google Scholar
  5. 5.
    Genes VI, éditions DE BOECK.Google Scholar
  6. 6.
    Chial et al. 2008.Google Scholar
  7. 7.
    American Cancer Society. www.cancer.org.
  8. 8.
    Antoniou AC, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98:1457–66.CrossRefGoogle Scholar
  9. 9.
    Chappuis PO, Bolliger B, Bürki N, Buser K, Heinimann K, Monnerat C, Morant R, Pagani O, Perey L, Rabaglio M, Sheila Unger on behalf of the Swiss Group for Clinical Cancer Research (SAKK) Network for Cancer Predisposition Testing and Counseling. Swiss guidelines for counseling and testing Genetic predisposition to breast and ovarian cancer; 2017.Google Scholar
  10. 10.
    Hall J, Lee M, Newman B, Morrow J, Anderson L, Huey B, King M. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250:1684–9.CrossRefGoogle Scholar
  11. 11.
    Strattot M. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789–92.Google Scholar
  12. 12.
    Kuchenbaecker KB, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317:2402.CrossRefGoogle Scholar
  13. 13.
    Ashworth A. A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair. JCO. 2008;26:3785.CrossRefGoogle Scholar
  14. 14.
    Hall MJ, et al. Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond. Gynecol Oncol. 2016;140:565.CrossRefGoogle Scholar
  15. 15.
    Robson ME, et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33:3660.CrossRefGoogle Scholar
  16. 16.
    Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014;12:1339.CrossRefGoogle Scholar
  17. 17.
    Richards S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405.CrossRefGoogle Scholar
  18. 18.
    Van El CG, et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580–4.CrossRefGoogle Scholar
  19. 19.
    Ayme S, Gribaldo L, Matthijs G, Borry P. European workshop on genetic testing offer in Europe; 2013.  https://doi.org/10.2788/77188.CrossRefGoogle Scholar
  20. 20.
    Kalia SS, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SFv2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(2):249–255.  https://doi.org/10.1038/gim.2016.190. CrossRefGoogle Scholar
  21. 21.
    Farmer H, McGabe N, Lord CJ, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005.Google Scholar
  22. 22.
    Bryant HE, Schultz N, Thomas HD, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymérase. Nature. 2005.Google Scholar
  23. 23.
    Fong PC, Boss DS, Yap TA, et al. Inhibition of poly (ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009.Google Scholar
  24. 24.
    Audeh W, Carmichael J, Penson RT, et al. Oral poly (ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet. 2010.Google Scholar
  25. 25.
    O’Shaughnessy J, Osborne C, Pippen JE, et al. Iniparib plus chemotherapy in metastatic triple-negative breast cancer. N Engl J Med. 2011;364(3):205–14.CrossRefGoogle Scholar
  26. 26.
    Foster C, Watson M, Eeles R, Eccles D, Ashley S, Davidson R, … Psychosocial Study Collaborators 11. Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up. Br J Cancer. 2007;96(5):718–24.  https://doi.org/10.1038/sj.bjc.6603610.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.University Hospital of LausanneLausanneSwitzerland
  2. 2.University Hospital of GenevaGenevaSwitzerland

Personalised recommendations