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Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

Breast and ovarian cancer represent two of the most common tumor types in females worldwide. Over the years, several non-modifiable and modifiable risk factors have been associated with the onset and progression of these tumors, including age, reproductive factors, ethnicity, socioeconomic status an...

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Autores principales: Lavoro, Alessandro, Scalisi, Aurora, Candido, Saverio, Zanghì, Guido Nicola, Rizzo, Roberta, Gattuso, Giuseppe, Caruso, Giuseppe, Libra, Massimo, Falzone, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997337/
https://www.ncbi.nlm.nih.gov/pubmed/35383859
http://dx.doi.org/10.3892/ijo.2022.5349
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author Lavoro, Alessandro
Scalisi, Aurora
Candido, Saverio
Zanghì, Guido Nicola
Rizzo, Roberta
Gattuso, Giuseppe
Caruso, Giuseppe
Libra, Massimo
Falzone, Luca
author_facet Lavoro, Alessandro
Scalisi, Aurora
Candido, Saverio
Zanghì, Guido Nicola
Rizzo, Roberta
Gattuso, Giuseppe
Caruso, Giuseppe
Libra, Massimo
Falzone, Luca
author_sort Lavoro, Alessandro
collection PubMed
description Breast and ovarian cancer represent two of the most common tumor types in females worldwide. Over the years, several non-modifiable and modifiable risk factors have been associated with the onset and progression of these tumors, including age, reproductive factors, ethnicity, socioeconomic status and lifestyle factors, as well as family history and genetic factors. Of note, BRCA1 and BRCA2 are two tumor suppressor genes with a key role in DNA repair processes, whose mutations may induce genomic instability and increase the risk of cancer development. Specifically, females with a family history of breast or ovarian cancer harboring BRCA1/2 germline mutations have a 60-70% increased risk of developing breast cancer and a 15-40% increased risk for ovarian cancer. Different databases have collected the most frequent germline mutations affecting BRCA1/2. Through the analysis of such databases, it is possible to identify frequent hotspot mutations that may be analyzed with next-generation sequencing (NGS) and novel innovative strategies. In this context, NGS remains the gold standard method for the assessment of BRCA1/2 mutations, while novel techniques, including droplet digital PCR (ddPCR), may improve the sensitivity to identify such mutations in the hereditary forms of breast and ovarian cancer. On these bases, the present study aimed to provide an update of the current knowledge on the frequency of BRCA1/2 mutations and cancer susceptibility, focusing on the diagnostic potential of the most recent methods, such as ddPCR.
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spelling pubmed-89973372022-04-12 Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families? Lavoro, Alessandro Scalisi, Aurora Candido, Saverio Zanghì, Guido Nicola Rizzo, Roberta Gattuso, Giuseppe Caruso, Giuseppe Libra, Massimo Falzone, Luca Int J Oncol Articles Breast and ovarian cancer represent two of the most common tumor types in females worldwide. Over the years, several non-modifiable and modifiable risk factors have been associated with the onset and progression of these tumors, including age, reproductive factors, ethnicity, socioeconomic status and lifestyle factors, as well as family history and genetic factors. Of note, BRCA1 and BRCA2 are two tumor suppressor genes with a key role in DNA repair processes, whose mutations may induce genomic instability and increase the risk of cancer development. Specifically, females with a family history of breast or ovarian cancer harboring BRCA1/2 germline mutations have a 60-70% increased risk of developing breast cancer and a 15-40% increased risk for ovarian cancer. Different databases have collected the most frequent germline mutations affecting BRCA1/2. Through the analysis of such databases, it is possible to identify frequent hotspot mutations that may be analyzed with next-generation sequencing (NGS) and novel innovative strategies. In this context, NGS remains the gold standard method for the assessment of BRCA1/2 mutations, while novel techniques, including droplet digital PCR (ddPCR), may improve the sensitivity to identify such mutations in the hereditary forms of breast and ovarian cancer. On these bases, the present study aimed to provide an update of the current knowledge on the frequency of BRCA1/2 mutations and cancer susceptibility, focusing on the diagnostic potential of the most recent methods, such as ddPCR. D.A. Spandidos 2022-04-06 /pmc/articles/PMC8997337/ /pubmed/35383859 http://dx.doi.org/10.3892/ijo.2022.5349 Text en Copyright: © Lavoro et al. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Lavoro, Alessandro
Scalisi, Aurora
Candido, Saverio
Zanghì, Guido Nicola
Rizzo, Roberta
Gattuso, Giuseppe
Caruso, Giuseppe
Libra, Massimo
Falzone, Luca
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
title Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
title_full Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
title_fullStr Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
title_full_unstemmed Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
title_short Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
title_sort identification of the most common brca alterations through analysis of germline mutation databases: is droplet digital pcr an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997337/
https://www.ncbi.nlm.nih.gov/pubmed/35383859
http://dx.doi.org/10.3892/ijo.2022.5349
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