Practice guidelines for
genetic testing
genetics
genetics, medical
germ-line mutation
loss of function mutation
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
received:
23
09
2021
accepted:
24
02
2022
pubmed:
9
4
2022
medline:
26
7
2022
entrez:
8
4
2022
Statut:
ppublish
Résumé
The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based
Identifiants
pubmed: 35393334
pii: jmedgenet-2021-108238
doi: 10.1136/jmedgenet-2021-108238
pmc: PMC9340048
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
727-736Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: DG and EMcC are principal investigators on the research grant funded by AstraZeneca. Funding was received by Hamilton Regional Laboratory Program. ELS’s institution (Shared Health) has received funding for test development from AstraZeneca, Shared Health Manitoba and CancerCare Manitoba Foundation. KB’s institution (Laboratoire de Diagnostic Moléculaire, Centre hospitalier de l’Université de Montréal) has received funding for test development from AstraZeneca. TLS has received grant for test development and honoraria for advisory boards related to ovarian cancer/ PARP inhibitors from AstraZeneca. AKV has received funding for test development and support for attending meeting/travel from AstraZeneca.
Références
J Clin Pathol. 2014 Nov;67(11):923-31
pubmed: 25012948
Nat Rev Genet. 2017 Oct;18(10):613-623
pubmed: 28649135
Nat Commun. 2017 Aug 22;8(1):319
pubmed: 28831036
Br J Cancer. 2012 Nov 6;107(10):1776-82
pubmed: 23047548
J Mol Diagn. 2018 Jan;20(1):4-27
pubmed: 29154853
Cancers (Basel). 2020 Nov 21;12(11):
pubmed: 33233347
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Virchows Arch. 2019 Jun;474(6):673-680
pubmed: 30888490
J Med Genet. 2019 Dec;56(12):792-800
pubmed: 31300550
Ann Oncol. 2016 Aug;27(8):1449-55
pubmed: 27037296
J Clin Oncol. 2011 Aug 1;29(22):3008-15
pubmed: 21709188
Lancet. 2017 Oct 28;390(10106):1949-1961
pubmed: 28916367
Genet Med. 2020 Feb;22(2):245-257
pubmed: 31690835
Mol Oncol. 2021 Jan;15(1):80-90
pubmed: 33030818
J Mol Diagn. 2017 May;19(3):341-365
pubmed: 28341590
Nature. 2011 Jun 29;474(7353):609-15
pubmed: 21720365
JCO Precis Oncol. 2017 Jul;2017:
pubmed: 28890946
J Natl Compr Canc Netw. 2019 Aug 1;17(8):896-909
pubmed: 31390583
JAMA. 2017 Jun 20;317(23):2402-2416
pubmed: 28632866
Clin Cancer Res. 2017 Dec 1;23(23):7165-7170
pubmed: 28751443
J Mol Diagn. 2016 Sep;18(5):657-667
pubmed: 27376475
J Med Genet. 2018 Sep;55(9):571-577
pubmed: 30042185
Clin Cancer Res. 2014 Feb 1;20(3):764-75
pubmed: 24240112
Am J Clin Pathol. 2016 Feb;145(2):222-37
pubmed: 27124905
Hum Mutat. 2018 Nov;39(11):1517-1524
pubmed: 30192042
Nat Genet. 1992 Oct;2(2):128-31
pubmed: 1303261
Cancer Cytopathol. 2015 May;123(5):289-97
pubmed: 25655233
BMC Cancer. 2019 Apr 2;19(1):296
pubmed: 30940100
J Mol Diagn. 2017 Jan;19(1):4-23
pubmed: 27993330
Virchows Arch. 2019 Jul;475(1):3-11
pubmed: 30877381
Lancet Oncol. 2017 Jan;18(1):75-87
pubmed: 27908594
JAMA Oncol. 2016 Apr;2(4):482-90
pubmed: 26720728
Gynecol Oncol. 2017 Aug;146(2):217-224
pubmed: 28596016
JCO Oncol Pract. 2020 Aug;16(8):e835-e838
pubmed: 32074015
N Engl J Med. 2018 Dec 27;379(26):2495-2505
pubmed: 30345884
Oncogene. 1995 Apr 20;10(8):1673-5
pubmed: 7731724
Nature. 2008 Oct 23;455(7216):1061-8
pubmed: 18772890
Arch Pathol Lab Med. 2019 Nov;143(11):1346-1363
pubmed: 31329478
J Clin Pathol. 2020 Mar;73(3):168-171
pubmed: 31537627
ESMO Open. 2021 Jun;6(3):100144
pubmed: 34015643
Genet Med. 2016 Feb;18(2):128-36
pubmed: 25880439
Gynecol Oncol. 2011 May 1;121(2):353-7
pubmed: 21324516
Nature. 2008 Feb 28;451(7182):1116-20
pubmed: 18264087
Semin Oncol. 2017 Jun;44(3):187-197
pubmed: 29248130
Cancer Cytopathol. 2017 Aug;125(8):615-626
pubmed: 28475299
Curr Oncol. 2019 Dec;26(6):353-360
pubmed: 31896933
CMAJ. 2020 Mar 2;192(9):E199-E205
pubmed: 32122974
Virchows Arch. 2020 Feb;476(2):195-207
pubmed: 31797087
Gynecol Oncol. 2015 Jan;136(1):3-7
pubmed: 25238946
Lancet Oncol. 2017 Sep;18(9):1274-1284
pubmed: 28754483