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Open AccessArticle

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

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Department of Oncology and Hematology, Azienda Ospedaliero-Universitaria di Modena, 41124 Modena, Italy
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Department of Surgery, Medicine, Dentistry and Morphological Sciences with Transplant Surgery, Oncology and Regenerative Medicine Relevance, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Pathology Unit, Azienda USL-IRCCS Reggio Emilia, 42123 Reggio Emilia, Italy
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Department of Obstetrics, Gynecology and Pediatrics, Obstetrics and Gynecology Unit, Azienda Ospedaliero-Universitaria di Modena, 41124 Modena, Italy
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Department of Laboratory Medicine and Pathology, Diagnostic hematology and Clinical Genomics Unit, Modena University Hospital, 41124 Modena, Italy
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Center for Genome Research University of Modena and Reggio Emilia, 41124 Modena, Italy
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Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Oncologic Breast Surgery Unit, Azienda Ospedaliero-Universitaria Policlinico, University Hospital of Modena, 41124 Modena, Italy
*
Author to whom correspondence should be addressed.
Cancers 2020, 12(5), 1252; https://doi.org/10.3390/cancers12051252
Received: 24 March 2020 / Revised: 30 April 2020 / Accepted: 13 May 2020 / Published: 15 May 2020
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. View Full-Text
Keywords: BRCA; family history; genetic testing; triple-negative; early-onset; breast cancer BRCA; family history; genetic testing; triple-negative; early-onset; breast cancer
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MDPI and ACS Style

Toss, A.; Molinaro, E.; Venturelli, M.; Domati, F.; Marcheselli, L.; Piana, S.; Barbieri, E.; Grandi, G.; Piombino, C.; Marchi, I.; Tenedini, E.; Tagliafico, E.; Tazzioli, G.; Cortesi, L. BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy. Cancers 2020, 12, 1252. https://doi.org/10.3390/cancers12051252

AMA Style

Toss A, Molinaro E, Venturelli M, Domati F, Marcheselli L, Piana S, Barbieri E, Grandi G, Piombino C, Marchi I, Tenedini E, Tagliafico E, Tazzioli G, Cortesi L. BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy. Cancers. 2020; 12(5):1252. https://doi.org/10.3390/cancers12051252

Chicago/Turabian Style

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. 2020. "BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy" Cancers 12, no. 5: 1252. https://doi.org/10.3390/cancers12051252

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