Open Access

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?

  • Authors:
    • Alessandro Lavoro
    • Aurora Scalisi
    • Saverio Candido
    • Guido Nicola Zanghì
    • Roberta Rizzo
    • Giuseppe Gattuso
    • Giuseppe Caruso
    • Massimo Libra
    • Luca Falzone
  • View Affiliations

  • Published online on: April 6, 2022     https://doi.org/10.3892/ijo.2022.5349
  • Article Number: 58
  • Copyright: © Lavoro et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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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May-2022
Volume 60 Issue 5

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Spandidos Publications style
Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M and Falzone L: 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?. Int J Oncol 60: 58, 2022.
APA
Lavoro, A., Scalisi, A., Candido, S., Zanghì, G.N., Rizzo, R., Gattuso, G. ... Falzone, L. (2022). 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?. International Journal of Oncology, 60, 58. https://doi.org/10.3892/ijo.2022.5349
MLA
Lavoro, A., Scalisi, A., Candido, S., Zanghì, G. N., Rizzo, R., Gattuso, G., Caruso, G., Libra, M., Falzone, L."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?". International Journal of Oncology 60.5 (2022): 58.
Chicago
Lavoro, A., Scalisi, A., Candido, S., Zanghì, G. N., Rizzo, R., Gattuso, G., Caruso, G., Libra, M., Falzone, L."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?". International Journal of Oncology 60, no. 5 (2022): 58. https://doi.org/10.3892/ijo.2022.5349