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BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis e...

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Autores principales: Toss, Angela, Molinaro, Eleonora, Venturelli, Marta, Domati, Federica, Marcheselli, Luigi, Piana, Simonetta, Barbieri, Elena, Grandi, Giovanni, Piombino, Claudia, Marchi, Isabella, Tenedini, Elena, Tagliafico, Enrico, Tazzioli, Giovanni, Cortesi, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281631/
https://www.ncbi.nlm.nih.gov/pubmed/32429297
http://dx.doi.org/10.3390/cancers12051252
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author Toss, Angela
Molinaro, Eleonora
Venturelli, Marta
Domati, Federica
Marcheselli, Luigi
Piana, Simonetta
Barbieri, Elena
Grandi, Giovanni
Piombino, Claudia
Marchi, Isabella
Tenedini, Elena
Tagliafico, Enrico
Tazzioli, Giovanni
Cortesi, Laura
author_facet Toss, Angela
Molinaro, Eleonora
Venturelli, Marta
Domati, Federica
Marcheselli, Luigi
Piana, Simonetta
Barbieri, Elena
Grandi, Giovanni
Piombino, Claudia
Marchi, Isabella
Tenedini, Elena
Tagliafico, Enrico
Tazzioli, Giovanni
Cortesi, Laura
author_sort Toss, Angela
collection PubMed
description NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.
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spelling pubmed-72816312020-06-17 BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy Toss, Angela Molinaro, Eleonora Venturelli, Marta Domati, Federica Marcheselli, Luigi Piana, Simonetta Barbieri, Elena Grandi, Giovanni Piombino, Claudia Marchi, Isabella Tenedini, Elena Tagliafico, Enrico Tazzioli, Giovanni Cortesi, Laura Cancers (Basel) Article NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing. MDPI 2020-05-15 /pmc/articles/PMC7281631/ /pubmed/32429297 http://dx.doi.org/10.3390/cancers12051252 Text en © 2020 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Toss, Angela
Molinaro, Eleonora
Venturelli, Marta
Domati, Federica
Marcheselli, Luigi
Piana, Simonetta
Barbieri, Elena
Grandi, Giovanni
Piombino, Claudia
Marchi, Isabella
Tenedini, Elena
Tagliafico, Enrico
Tazzioli, Giovanni
Cortesi, Laura
BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy
title BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy
title_full BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy
title_fullStr BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy
title_full_unstemmed BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy
title_short BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy
title_sort brca detection rate in an italian cohort of luminal early-onset and triple-negative breast cancer patients without family history: when biology overcomes genealogy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281631/
https://www.ncbi.nlm.nih.gov/pubmed/32429297
http://dx.doi.org/10.3390/cancers12051252
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