Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects

Lucrezia Pilenzi
,
Federico Anaclerio
* ,
Anastasia Dell’Elice
,
Maria Minelli
,
Roberta Giansante
,
Michela Cicirelli
,
Nicola Tinari
ORCID logo ,
Antonino Grassadonia
,
Andrea Pantalone
ORCID logo ,
Simona Grossi
,
Nicole Canale
,
Annalisa Bruno
ORCID logo ,
Giuseppe Calabrese
,
Patrizia Ballerini
,
Liborio Stuppia
,
Ivana Antonucci
ORCID logo
Version 1 : Received: 24 May 2024 / Approved: 25 May 2024 / Online: 27 May 2024 (10:08:04 CEST)

How to cite: Pilenzi, L.; Anaclerio, F.; Dell’Elice, A.; Minelli, M.; Giansante, R.; Cicirelli, M.; Tinari, N.; Grassadonia, A.; Pantalone, A.; Grossi, S.; Canale, N.; Bruno, A.; Calabrese, G.; Ballerini, P.; Stuppia, L.; Antonucci, I. The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects. Preprints 2024, 2024051664. https://doi.org/10.20944/preprints202405.1664.v1 Pilenzi, L.; Anaclerio, F.; Dell’Elice, A.; Minelli, M.; Giansante, R.; Cicirelli, M.; Tinari, N.; Grassadonia, A.; Pantalone, A.; Grossi, S.; Canale, N.; Bruno, A.; Calabrese, G.; Ballerini, P.; Stuppia, L.; Antonucci, I. The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects. Preprints 2024, 2024051664. https://doi.org/10.20944/preprints202405.1664.v1

Abstract

Hereditary cancer syndromes caused by germline mutations account for 5-10% of all cancers. The finding of a genetic mutation could have far-reaching consequences for pharmaceutical therapy, personalized prevention strategies, and cascade testing. According to the National Comprehensive Cancer Network’s (NCCN) and the Italian Association of Medical Oncology (AIOM) guidelines, unaffected family members should be tested only if the affected one is unavailable. This article explores whether germline genetic testing may be offered to high-risk families for hereditary cancer even if a living affected relative is missing. A retrospective study was carried out on 103 healthy subjects tested from 2017 to 2023. We enrolled all subjects with at least two first or second-degree relatives affected by breast, ovarian, pancreatic, gastric, prostate, or colorectal cancer. All subjects were tested by Next Generation Sequencing (NGS) multi-gene panel of 27 cancer-associated genes. In the study population, 5 (about 5%) pathogenic/likely pathogenic variants (PVs/LPVs) were found while 40 (42%) had a Variant of Uncertain Significance (VUS). This study highlights the importance of genetic testing for individuals with a strong family history of hereditary malignancies. This approach would allow women who tested positive to receive tailored treatment and prevention strategies based on their personal mutation status.

Keywords

hereditary cancer; unaffected family member; NGS multigene panel

Subject

Public Health and Healthcare, Public Health and Health Services

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.