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.
Simple Summary: The purpose of this study is to emphasize the importance of genetic testing for healthy individuals with a strong family history of hereditary malignancies. A total of 103 healthy subjects with at least two relatives with cancer were enrolled. By NGS analysis of 27 genes, 5% were fou...
| Publicado en: | Cancers Vol. 16; no. 13; pp. 2327 - 2337 |
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| Autores principales: | , , , , , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
MDPI
Jul2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=178695908&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 178695908 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 20726694 B74B jtl: Cancers issn: 20726694 maglogo: N pubinfo: dt: Jul2024 vid: 16 iid: 13 pid: 97109 pub: MDPI artinfo: ui: 178695908 178695908 178695908 10.3390/cancers16132327 178695908 ppf: 2327 ppct: 10 formats: tig: atl: 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. aug: au: Pilenzi, Lucrezia Anaclerio, Federico Dell'Elice, Anastasia Minelli, Maria Giansante, Roberta Cicirelli, Michela Tinari, Nicola Grassadonia, Antonino Pantalone, Andrea Grossi, Simona Canale, Nicole Bruno, Annalisa Calabrese, Giuseppe Ballerini, Patrizia Stuppia, Liborio Antonucci, Ivana affil: Center for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy sug: subj: Neoplasms Familial and Genetic Family Neoplasms Risk Factors Risk Assessment Genetic Screening Human Retrospective Design Record Review Oncogenes Mutation Individualized Medicine Genomics Sequence Analysis ab: Simple Summary: The purpose of this study is to emphasize the importance of genetic testing for healthy individuals with a strong family history of hereditary malignancies. A total of 103 healthy subjects with at least two relatives with cancer were enrolled. By NGS analysis of 27 genes, 5% were found to carry a pathogenic variant in a hereditary cancer susceptibility gene. In the era of personalized medicine, genetic testing of healthy subjects in the absence of a living affected collateral is crucially important for early diagnosis, clinical surveillance and surgical choice. 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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