Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2023 Nov 25

PMID 38003012

Authors

Davide Calosci

Lisa Passaglia

Ilaria Gabbiato

Francesca Cartisano

Rebecca Affuso

Ugo Sorrentino

Daniela Zuccarello

Affiliations

Soon will be listed here.

Abstract

Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic Testing for Monogenic disorders (PGT-M). Specifically, we conducted a literature review about the awareness and acceptability of its application to CPSs. Based on the available data, the awareness of the applicability of PGT-M for CPSs appears to be limited among both patients and physicians, and a heterogeneous set of factors seems to influence the acceptability of the procedure. Our findings highlight the need for increasing education about the use of PGT-M for CPSs. In this context, guidelines developed by professional or institutional bodies would represent a useful reference tool to assist healthcare professionals in providing proper preconception counseling.

Citing Articles

IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.

Poulton A, Menezes M, Hardy T, Lewis S, Hui L J Assist Reprod Genet. 2025; .

PMID: 40067642 DOI: 10.1007/s10815-025-03416-6.

References

Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C . Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online. 2002; 5(2):148-55. DOI: 10.1016/s1472-6483(10)61617-3. View

Gietel-Habets J, de Die-Smulders C, Tjan-Heijnen V, Derks-Smeets I, van Golde R, Gomez-Garcia E . Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer. Reprod Biomed Online. 2017; 36(2):137-144. DOI: 10.1016/j.rbmo.2017.11.005. View

Ormondroyd E, Donnelly L, Moynihan C, Savona C, Bancroft E, Evans D . Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis. Eur J Hum Genet. 2011; 20(1):4-10. PMC: 3234514. DOI: 10.1038/ejhg.2011.146. View

Gonzalez I, Stewart D, Schultz K, Field A, Hill D, Dehner L . DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol. 2021; 35(1):4-22. PMC: 8695383. DOI: 10.1038/s41379-021-00905-8. View

Lombardi L, Trumello C, Stuppia L, Antonucci I, Brandao T, Babore A . BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). J Assist Reprod Genet. 2022; 39(7):1433-1443. PMC: 9365893. DOI: 10.1007/s10815-022-02523-y. View

Hansen A, Sonderberg Roos L, Lossl K, Godballe C, Mathiesen J . Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A. Front Endocrinol (Lausanne). 2020; 11:572151. PMC: 7592389. DOI: 10.3389/fendo.2020.572151. View

Caceres V, Murray T, Myers C, Parbhoo K . Prenatal Genetic Testing and Screening: A Focused Review. Semin Pediatr Neurol. 2022; 42:100976. DOI: 10.1016/j.spen.2022.100976. View

Kastrinos F, Stoffel E, Balmana J, Syngal S . Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol. 2007; 102(6):1284-90. DOI: 10.1111/j.1572-0241.2007.01168.x. View

Aelvoet A, Buttitta F, Ricciardiello L, Dekker E . Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights. Best Pract Res Clin Gastroenterol. 2022; 58-59:101793. DOI: 10.1016/j.bpg.2022.101793. View

10.

Ferlin A, Calogero A, Krausz C, Lombardo F, Paoli D, Rago R . Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS) : Endorsing Organization: Italian Society of Embryology, Reproduction, and Research (SIERR). J Endocrinol Invest. 2022; 45(5):1085-1113. DOI: 10.1007/s40618-022-01741-6. View

11.

Rahner N, Steinke V . Hereditary cancer syndromes. Dtsch Arztebl Int. 2009; 105(41):706-14. PMC: 2696972. DOI: 10.3238/arztebl.2008.0706. View

12.

Marteau T, Michie S, Drake H, Bobrow M . Public attitudes towards the selection of desirable characteristics in children. J Med Genet. 1995; 32(10):796-8. PMC: 1051703. DOI: 10.1136/jmg.32.10.796. View

13.

Van Montfoort A, Carvalho F, Coonen E, Kokkali G, Moutou C, Rubio C . ESHRE PGT Consortium data collection XIX-XX: PGT analyses from 2016 to 2017. Hum Reprod Open. 2021; 2021(3):hoab024. PMC: 8313404. DOI: 10.1093/hropen/hoab024. View

14.

Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C . Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online. 2003; 4(3):218-22. DOI: 10.1016/s1472-6483(10)61809-3. View

15.

Rooney M, Miller K, Plichta J . Genetics of Breast Cancer: Risk Models, Who to Test, and Management Options. Surg Clin North Am. 2022; 103(1):35-47. DOI: 10.1016/j.suc.2022.08.016. View

16.

Vriesen N, Carmany E, Natoli J . Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review. Prenat Diagn. 2022; 42(2):201-211. DOI: 10.1002/pd.6084. View

17.

Verlinsky Y, Rechitsky S, Verlinsky O, Xu K, Schattman G, Masciangelo C . Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod Biomed Online. 2003; 2(2):102-105. DOI: 10.1016/s1472-6483(10)62233-x. View

18.

Abedalthagafi M . Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies. Oncotarget. 2018; 9(83):35458-35469. PMC: 6226037. DOI: 10.18632/oncotarget.26249. View

19.

Easton D, Ponder M, Cummings T, Gagel R, Hansen H, Reichlin S . The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Am J Hum Genet. 1989; 44(2):208-15. PMC: 1715408. View

20.

Derks-Smeets I, Gietel-Habets J, Tibben A, Tjan-Heijnen V, Meijer-Hoogeveen M, Geraedts J . Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer. Hum Reprod. 2014; 29(5):1103-12. DOI: 10.1093/humrep/deu034. View