Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Adult
Aged
Aged, 80 and over
BRCA1 Protein
/ genetics
BRCA2 Protein
/ genetics
Breast Neoplasms
/ diagnosis
Fanconi Anemia Complementation Group N Protein
/ genetics
Female
Genetic Predisposition to Disease
/ genetics
Genetic Testing
/ methods
Germ-Line Mutation
Hospitals
Humans
Middle Aged
Reproducibility of Results
Sensitivity and Specificity
Young Adult
Journal
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
ISSN: 1527-7755
Titre abrégé: J Clin Oncol
Pays: United States
ID NLM: 8309333
Informations de publication
Date de publication:
01 05 2020
01 05 2020
Historique:
pubmed:
4
3
2020
medline:
2
2
2021
entrez:
4
3
2020
Statut:
ppublish
Résumé
To determine the sensitivity and specificity of genetic testing criteria for the detection of germline pathogenic variants in women with breast cancer. Women with breast cancer enrolled in a breast cancer registry at a tertiary cancer center between 2000 and 2016 were evaluated for germline pathogenic variants in 9 breast cancer predisposition genes ( Of 3,907 women, 1,872 (47.9%) meeting NCCN criteria were more likely to carry a pathogenic variant in 9 predisposition genes compared with women not meeting criteria (9.0% A substantial proportion of women with breast cancer carrying germline pathogenic variants in predisposition genes do not qualify for testing by NCCN criteria. Expansion of NCCN criteria to include all women diagnosed at ≤ 65 years of age improves the sensitivity of the selection criteria without requiring testing of all women with breast cancer.
Identifiants
pubmed: 32125938
doi: 10.1200/JCO.19.02190
pmc: PMC7193748
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Fanconi Anemia Complementation Group N Protein
0
PALB2 protein, human
0
Types de publication
Evaluation Study
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1409-1418Subventions
Organisme : NCI NIH HHS
ID : R01 CA225662
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA176785
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA116167
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA116167
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA116201
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA192393
Pays : United States
Références
J Natl Cancer Inst. 2018 Jul 1;110(7):714-725
pubmed: 29361001
JAMA Oncol. 2018 Aug 1;4(8):1066-1072
pubmed: 29801090
BMJ. 2014 Feb 11;348:g226
pubmed: 24519767
J Clin Oncol. 2019 Feb 20;37(6):445-447
pubmed: 30526228
JAMA Surg. 2019 Oct 1;154(10):895-896
pubmed: 31429868
J Law Biosci. 2018 Jan 22;4(3):648-657
pubmed: 29868193
N Engl J Med. 2018 Aug 23;379(8):753-763
pubmed: 30110579
Br J Cancer. 2005 Aug 8;93(3):287-92
pubmed: 16052221
Nat Rev Clin Oncol. 2016 Sep;13(9):581-8
pubmed: 27296296
Ann Surg. 2010 Mar;251(3):488-92
pubmed: 20134318
JAMA Netw Open. 2019 Aug 2;2(8):e1910142
pubmed: 31434110
Ann Surg Oncol. 2018 Oct;25(10):2925-2931
pubmed: 29998407
Cancer. 2017 May 15;123(10):1721-1730
pubmed: 28085182
JAMA. 2019 Aug 20;322(7):652-665
pubmed: 31429903
J Med Genet. 2001 Jan;38(1):43-7
pubmed: 11332399
J Natl Cancer Inst. 2018 Aug 1;110(8):855-862
pubmed: 30099541
Breast Cancer Res. 2004;6(4):R375-89
pubmed: 15217505
Stat Med. 2004 Apr 15;23(7):1111-30
pubmed: 15057881
J Clin Oncol. 2019 Aug 20;37(24):2175-2176
pubmed: 31246525
J Clin Oncol. 2019 Aug 20;37(24):2178-2180
pubmed: 31246521
Nat Med. 2018 May;24(5):628-637
pubmed: 29713086
J Clin Oncol. 2016 May 1;34(13):1460-8
pubmed: 26976419
JAMA. 2019 Aug 20;322(7):619-621
pubmed: 31429878
JAMA Oncol. 2019 Oct 3;:
pubmed: 31580391
JAMA Oncol. 2017 Sep 1;3(9):1190-1196
pubmed: 28418444
J Natl Cancer Inst. 2018 Jul 1;110(7):687-689
pubmed: 29401305
J Clin Oncol. 2019 Feb 20;37(6):453-460
pubmed: 30526229
JAMA Oncol. 2019 Oct 3;:
pubmed: 31580388
Am Soc Clin Oncol Educ Book. 2019 Jan;39:61-74
pubmed: 31099663
Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):24-37
pubmed: 29512888
J Clin Oncol. 2019 Aug 20;37(24):2177-2178
pubmed: 31246531
JAMA. 2018 Jun 19;319(23):2401-2409
pubmed: 29922827
Cancers (Basel). 2018 Nov 05;10(11):
pubmed: 30400647
Am J Med. 2019 Nov;132(11):e765-e766
pubmed: 30946833
J Am Geriatr Soc. 2019 May;67(5):884-888
pubmed: 31012959
J Med Genet. 2010 Jul;47(7):436-44
pubmed: 20591882
Genet Med. 2020 Apr;22(4):681-685
pubmed: 31831881
Clin Genet. 2013 Nov;84(5):464-72
pubmed: 23323793
N Engl J Med. 2017 Aug 10;377(6):523-533
pubmed: 28578601
J Mol Diagn. 2019 Jul;21(4):646-657
pubmed: 31201024
Cancer Epidemiol Biomarkers Prev. 2000 Jan;9(1):103-11
pubmed: 10667470
J Oncol Pract. 2016 Apr;12(4):339-83
pubmed: 26979926
J Med Genet. 2005 Jan;42(1):e5
pubmed: 15635067
Ann Surg Oncol. 2019 Oct;26(10):3025-3031
pubmed: 31342359