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

Sep 24, 2026

Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), describe genetic disorders marked by increased lifetime cancer risk. The article reviews reproductive options for affected patients, with emphasis on Preimplantation Genetic Testing for Monogenic disorders (PGT-M). A literature review was conducted on awareness and acceptability of applying PGT-M to CPSs. Evidence indicates limited awareness among patients and physicians and highlights multiple heterogeneous factors shaping acceptability, supporting stronger education and the need for professional or institutional guidelines to enable proper preconception counseling.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages16

Reading Time40 min

AccessFree to download

Background

Cancer Predisposition Syndromes

Genetic basis and risk

Awareness and acceptability of PGT-M

Education needs and guidance

Review Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes Davide Calosci 1,*, Lisa Passaglia 1, Ilaria Gabbiato 1, Francesca Cartisano 1, Rebecca Affuso 1, Ugo Sorrentino 1 and Daniela Zuccarello 2 Citation: Calosci, D.; Passaglia, L.; Gabbiato, I.; Cartisano, F.; Affuso, R.; Sorrentino, U.; Zuccarello, D. Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes. Genes 2023, 14, 2069 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)genes14112069 Academic Editor: Christos K. Kontos Received: 11 October 2023 Revised: 6 November 2023 Accepted: 10 November 2023 Published: 12 November 2023 Copyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) . 1 Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy; [lisa.passaglia@studenti.unipd.it](lisa.passaglia@studenti.unipd.it) (L.P.); [ilaria.gabbiato@studenti.unipd.it](ilaria.gabbiato@studenti.unipd.it) (I.G.); [francesca.cartisano@studenti.unipd.it](francesca.cartisano@studenti.unipd.it) (F.C.); [rebecca.affuso@studenti.unipd.it](rebecca.affuso@studenti.unipd.it) (R.A.); [ugo.sorrentino@unipd.it](ugo.sorrentino@unipd.it) (U.S.) 2 Department of Lab Medicine Unit of Clinical Genetics and Epidemiology, University Hospital of Padova, Via Giustiniani 3, 35128 Padova, Italy; [daniela.zuccarello@unipd.it](daniela.zuccarello@unipd.it) * Correspondence: [davide.calosci@studenti.unipd.it](davide.calosci@studenti.unipd.it); Tel.: +39-3475485441 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. Keywords: Cancer Predisposition Syndromes; prenatal diagnosis; fertility preservation; PGT-M 1. Background Hereditary transmission or de novo occurrence of pathogenic variants in a speciﬁc subset of predisposing genes is associated with an increased lifetime risk of developing tumors. These hereditary disorders, which are collectively referred to as Cancer Predisposition Syndromes (CPSs), impose a high burden on patients in terms of reduced quality of life and life expectancy but also troubled reproductive prospects. Assisted reproduction technologies, such as Preimplantation Genetic Testing for Monogenic disorders (PGT-M), offer a viable alternative to willing patients by preventing the transmission of causative variants through generations. However, according to the literature, the knowledge of these technologies among patients, and even professionals, remains limited, and so does patients'willingness to make use of them. This appears to be inﬂuenced by a complex interplay of clinical, reproductive, demographic, socio-cultural, ethical, and psychological facto

FAQs

What are Cancer Predisposition Syndromes (CPSs) and why do they matter?

CPSs are inherited genetic disorders associated with an increased lifetime risk of developing cancer. They can substantially affect quality of life and life expectancy and complicate reproductive decision-making.

How does PGT-M relate to reproductive options for CPS patients?

PGT-M is presented as an assisted reproduction option that can prevent transmission of causative monogenic variants across generations by testing embryos prior to implantation.

What does the review find about awareness and acceptability of PGT-M?

The review suggests awareness of PGT-M applicability to CPSs is limited among both patients and physicians. Acceptability is shaped by a heterogeneous set of clinical, reproductive, demographic, socio-cultural, ethical, and psychological factors.

Sep 24, 2026

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