A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results.
Tyrer-Cuzick model
hereditary breast ovarian cancer
population-based screening
Journal
Cancer medicine
ISSN: 2045-7634
Titre abrégé: Cancer Med
Pays: United States
ID NLM: 101595310
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
02
12
2019
revised:
16
12
2019
accepted:
20
12
2019
pubmed:
12
2
2020
medline:
15
5
2021
entrez:
12
2
2020
Statut:
ppublish
Résumé
Up to 10% of individuals with breast cancer (BC) belong to families with hereditary syndromes. The aim of this study was to develop an instrument to identify individuals/families at high-hereditary risk for BC and offer dedicated surveillance programs according to different risks. The instrument consisted of a primary questionnaire collecting history of BC and ovarian cancer (OC). This questionnaire was applied to women enrolled in the Emilia-Romagna Breast Cancer Screening Program. General practitioners (GPs) and specialists could propose the same questionnaire too. Women with a score of ≥ 2, were invited to complete an oncogenetic counseling. According to the Tyrer-Cuzick evaluation, women considered at high risk were invited to involve the most representative alive individual of the family affected with BC/OC for BRCA1/2 genetic testing. Since January 2012 and December 2016, 660 040 women were evaluated by the regional screening program, of which 22 289 (3.5%) were invited to the Spoke evaluation, but only 5615 accepted (25.2%). Totally, also considering women sent by GPs and specialists, 11 667 were assessed and 5554 were sent to the Hub evaluation. Finally, 2342 (42.8%) women fulfilled the criteria for genetic testing, and 544 (23.2%) resulted BRCA1/2 mutation carriers. To our knowledge, this is the first regional population-based multistep model that is aimed to identify individuals with BRCA1/2 mutations and to offer an intensive surveillance program for hereditary-high risk women. This tool is feasible and effective, even if more efforts must be performed to increase the acceptance of multiple assessments by the study population.
Sections du résumé
BACKGROUND
Up to 10% of individuals with breast cancer (BC) belong to families with hereditary syndromes. The aim of this study was to develop an instrument to identify individuals/families at high-hereditary risk for BC and offer dedicated surveillance programs according to different risks.
METHODS
The instrument consisted of a primary questionnaire collecting history of BC and ovarian cancer (OC). This questionnaire was applied to women enrolled in the Emilia-Romagna Breast Cancer Screening Program. General practitioners (GPs) and specialists could propose the same questionnaire too. Women with a score of ≥ 2, were invited to complete an oncogenetic counseling. According to the Tyrer-Cuzick evaluation, women considered at high risk were invited to involve the most representative alive individual of the family affected with BC/OC for BRCA1/2 genetic testing.
RESULTS
Since January 2012 and December 2016, 660 040 women were evaluated by the regional screening program, of which 22 289 (3.5%) were invited to the Spoke evaluation, but only 5615 accepted (25.2%). Totally, also considering women sent by GPs and specialists, 11 667 were assessed and 5554 were sent to the Hub evaluation. Finally, 2342 (42.8%) women fulfilled the criteria for genetic testing, and 544 (23.2%) resulted BRCA1/2 mutation carriers.
CONCLUSIONS
To our knowledge, this is the first regional population-based multistep model that is aimed to identify individuals with BRCA1/2 mutations and to offer an intensive surveillance program for hereditary-high risk women. This tool is feasible and effective, even if more efforts must be performed to increase the acceptance of multiple assessments by the study population.
Identifiants
pubmed: 32045136
doi: 10.1002/cam4.2824
pmc: PMC7131858
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2579-2589Informations de copyright
© 2020 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
Références
J Natl Black Nurses Assoc. 2015 Dec;26(2):17-26
pubmed: 27045154
Can Fam Physician. 2016 Oct;62(10):799-803
pubmed: 27737975
Eur J Cancer. 2000 Oct;36(16):2083-9
pubmed: 11044645
J Natl Cancer Inst. 2018 Jul 1;110(7):714-725
pubmed: 29361001
Genet Med. 2015 Jan;17(1):70-87
pubmed: 25394175
J Med Genet. 2003 Nov;40(11):807-14
pubmed: 14627668
Am J Hum Genet. 1997 Feb;60(2):313-9
pubmed: 9012404
Eur J Breast Health. 2018 Oct 01;14(4):189-193
pubmed: 30288491
Mutat Res. 2017 Oct;774:33-45
pubmed: 29173497
J Clin Oncol. 2010 Feb 10;28(5):893-901
pubmed: 20065170
Int J Cancer. 2014 Oct 15;135(8):1756-63
pubmed: 24945890
J Clin Oncol. 2013 Jan 1;31(1):49-57
pubmed: 23213100
Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242
pubmed: 30152102
Mayo Clin Proc. 2019 Jun;94(6):1084-1098
pubmed: 31171119
Breast Cancer Res Treat. 1990 Feb;15(2):63-71
pubmed: 2322650
Breast Cancer Res Treat. 2012 Jul;134(1):411-8
pubmed: 22527108
Arch Pathol Lab Med. 2001 Jan;125(1):85-90
pubmed: 11151059
Genet Med. 2016 Dec;18(12):1171-1180
pubmed: 27906166
Nature. 2011 Jun 29;474(7353):609-15
pubmed: 21720365
Am J Med Genet. 1997 Oct 17;72(2):164-71
pubmed: 9382137
Cochrane Database Syst Rev. 2012 Feb 15;(2):CD003721
pubmed: 22336791
Stat Med. 2004 Apr 15;23(7):1111-30
pubmed: 15057881
J Clin Oncol. 2002 Mar 15;20(6):1480-90
pubmed: 11896095
Cancer Med. 2017 Dec;6(12):3014-3024
pubmed: 29055968
Ann N Y Acad Sci. 2010 Dec;1214:70-82
pubmed: 20946573
Int J Cancer. 2019 Mar 1;144(5):1001-1009
pubmed: 30098212
BMC Cancer. 2006 Aug 17;6:210
pubmed: 16916448
Br J Gen Pract. 2019 Feb;69(679):e97-e105
pubmed: 30510097
Breast Cancer Res Treat. 2008 Nov;112(2):343-9
pubmed: 18092194
J Womens Health (Larchmt). 2018 Feb;27(2):162-170
pubmed: 28472603
Aust N Z J Public Health. 2011 Jun;35(3):226-30
pubmed: 21627722
Cancer. 2006 Oct 15;107(8):1769-76
pubmed: 16967460
Cancer Med. 2020 Apr;9(7):2579-2589
pubmed: 32045136
JAMA Surg. 2017 Jun 1;152(6):589-594
pubmed: 28423155