BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy.
BRCA
breast cancer
early-onset
family history
genetic testing
triple-negative
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
15 May 2020
15 May 2020
Historique:
received:
24
03
2020
revised:
30
04
2020
accepted:
13
05
2020
entrez:
21
5
2020
pubmed:
21
5
2020
medline:
21
5
2020
Statut:
epublish
Résumé
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 51-60s. 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%
Identifiants
pubmed: 32429297
pii: cancers12051252
doi: 10.3390/cancers12051252
pmc: PMC7281631
pii:
doi:
Types de publication
Journal Article
Langues
eng
Déclaration de conflit d'intérêts
The authors declare no potential conflicts of interest.
Références
Cancer. 2012 Jan 15;118(2):321-5
pubmed: 21913181
J Cancer Res Clin Oncol. 2015 Nov;141(11):2005-12
pubmed: 25971625
Nat Genet. 2018 Sep;50(9):1212-1218
pubmed: 30158684
Surg Clin North Am. 2008 Aug;88(4):705-21, v
pubmed: 18672137
Eur J Cancer. 2000 Oct;36(16):2083-9
pubmed: 11044645
J Clin Oncol. 2020 Apr 20;38(12):1346-1366
pubmed: 31928404
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
J Genet Couns. 2007 Jun;16(3):241-60
pubmed: 17508274
Br J Dermatol. 2015 Sep;173(3):731-8
pubmed: 25913354
Breast Cancer Res Treat. 2014 Jun;145(3):707-14
pubmed: 24807107
Ann Surg Oncol. 2013 Oct;20(10):3254-8
pubmed: 23975317
Stat Med. 2004 Apr 15;23(7):1111-30
pubmed: 15057881
JAMA. 2017 Jun 20;317(23):2402-2416
pubmed: 28632866
Curr Cancer Drug Targets. 2018;18(9):877-893
pubmed: 29521233
Clin Cancer Res. 2000 Mar;6(3):782-9
pubmed: 10741697
Int J Cancer. 2019 Mar 1;144(5):1001-1009
pubmed: 30098212
Ann Oncol. 2017 Oct 1;28(10):2420-2428
pubmed: 28961844
BMC Cancer. 2006 Aug 17;6:210
pubmed: 16916448
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Clin Oncol. 2017 Jul 10;35(20):2240-2250
pubmed: 28448241
Cancers (Basel). 2019 Feb 07;11(2):
pubmed: 30736435
Breast J. 2013 Jan-Feb;19(1):10-21
pubmed: 23252601
Bioinformatics. 2010 Aug 15;26(16):2069-70
pubmed: 20562413
Ann Oncol. 2014 Jan;25(1):57-63
pubmed: 24276029
JAMA. 2007 Jun 20;297(23):2587-95
pubmed: 17579227
Oncology. 2017;93(6):377-386
pubmed: 28848147
Breast Cancer Res Treat. 1999 Jun;55(3):213-21
pubmed: 10517166
Cancer Res. 2020 Feb 1;80(3):624-638
pubmed: 31723001
JAMA Netw Open. 2019 May 3;2(5):e194428
pubmed: 31125106
Minerva Med. 2019 Aug;110(4):301-319
pubmed: 31081309
Lancet Oncol. 2018 Feb;19(2):169-180
pubmed: 29337092
Eur J Contracept Reprod Health Care. 2019 Dec;24(6):417-419
pubmed: 31361161
Crit Rev Oncol Hematol. 2006 Jul;59(1):27-39
pubmed: 16530420
Oncotarget. 2017 Feb 7;8(6):9144-9154
pubmed: 27880720
N Engl J Med. 2018 Aug 23;379(8):753-763
pubmed: 30110579
BMC Cancer. 2018 Mar 7;18(1):265
pubmed: 29514593