Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
CHEK2
Cancer predisposition
Cancer risk
Cancer surveillance
Inherited cancer
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
received:
14
02
2023
revised:
21
04
2023
accepted:
24
04
2023
pmc-release:
01
10
2024
medline:
6
11
2023
pubmed:
25
7
2023
entrez:
25
7
2023
Statut:
ppublish
Résumé
Although the role of CHEK2 germline pathogenic variants in cancer predisposition is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited. An international workgroup developed guidance on clinical management of CHEK2 heterozygotes informed by peer-reviewed publications from PubMed. Although CHEK2 is considered a moderate penetrance gene, cancer risks may be considered as a continuous variable, which are influenced by family history and other modifiers. Consequently, early cancer detection and prevention for CHEK2 heterozygotes should be guided by personalized risk estimates. Such estimates may result in both downgrading lifetime breast cancer risks to those similar to the general population or upgrading lifetime risk to a level at which CHEK2 heterozygotes are offered high-risk breast surveillance according to country-specific guidelines. Risk-reducing mastectomy should be guided by personalized risk estimates and shared decision making. Colorectal and prostate cancer surveillance should be considered based on assessment of family history. For CHEK2 heterozygotes who develop cancer, no specific targeted medical treatment is recommended at this time. Systematic prospective data collection is needed to establish the spectrum of CHEK2-associated cancer risks and to determine yet-unanswered questions, such as the outcomes of surveillance, response to cancer treatment, and survival after cancer diagnosis.
Identifiants
pubmed: 37490054
pii: S1098-3600(23)00883-3
doi: 10.1016/j.gim.2023.100870
pmc: PMC10623578
mid: NIHMS1896555
pii:
doi:
Substances chimiques
Checkpoint Kinase 2
EC 2.7.1.11
CHEK2 protein, human
EC 2.7.11.1
Types de publication
Practice Guideline
Research Support, N.I.H., Intramural
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
100870Subventions
Organisme : Cancer Research UK
ID : 27223
Pays : United Kingdom
Organisme : Intramural NIH HHS
ID : ZIA CP010142
Pays : United States
Informations de copyright
Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest Funding and support listed here did not support development of this document unless included in the acknowledgments section. H.H. is supported by the Cancer Research CRUK Catalyst Award, CanGene-CanVar, and has served on advisory boards for AstraZeneca. R.S. is supported by the German Cancer Aid and the Federal Ministry of Education and Research (BMBF), Germany. M.T. is supported by the National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre. D.R.S. is supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute (NCI), Rockville, Maryland, and also performs contract clinical telehealth services for Genome Medical, Inc., in accordance with relevant NCI ethics policies. All other authors declare no conflicts of interest.
Références
Science. 1999 Dec 24;286(5449):2528-31
pubmed: 10617473
Breast Cancer Res Treat. 2014 Apr;144(2):397-403
pubmed: 24557336
J Med Genet. 2008 Jan;45(1):63-4
pubmed: 18178638
Br J Cancer. 2014 Aug 26;111(5):1004-13
pubmed: 24918820
Breast Cancer Res. 2007;9(2):R26
pubmed: 17428320
JCO Precis Oncol. 2021 Jun 24;5:
pubmed: 34322652
Eur J Cancer. 2017 Sep;83:103-105
pubmed: 28734145
Int J Clin Exp Med. 2015 Sep 15;8(9):15708-15
pubmed: 26629066
Hered Cancer Clin Pract. 2015 Mar 01;13(1):8
pubmed: 25798211
Genet Med. 2019 Apr;21(4):769-771
pubmed: 30578420
Cancers (Basel). 2021 Jan 26;13(3):
pubmed: 33530461
Am J Hum Genet. 2004 Dec;75(6):1131-5
pubmed: 15492928
JAMA Oncol. 2018 Sep 1;4(9):1228-1235
pubmed: 29978187
Breast Cancer Res. 2022 Feb 8;24(1):11
pubmed: 35135604
Mol Omics. 2019 Feb 11;15(1):59-66
pubmed: 30633282
JCO Precis Oncol. 2021 Dec 22;5:
pubmed: 34964002
J Med Genet. 2016 Dec;53(12):800-811
pubmed: 27595995
Eur J Hum Genet. 2019 Feb;27(2):169-182
pubmed: 30310124
J Clin Oncol. 2021 Aug 10;39(23):2564-2573
pubmed: 34101481
Eur Urol. 2019 Sep;76(3):329-337
pubmed: 30777372
JAMA. 2015 Sep 1;314(9):913-25
pubmed: 26325560
Genet Med. 2021 May;23(5):833-836
pubmed: 33420344
Am J Hum Genet. 2003 Feb;72(2):270-80
pubmed: 12533788
Cancer Epidemiol Biomarkers Prev. 2021 Mar;30(3):469-473
pubmed: 33335023
J Invest Dermatol. 2012 Feb;132(2):299-303
pubmed: 21956126
Cancer. 2017 May 15;123(10):1721-1730
pubmed: 28085182
J Natl Compr Canc Netw. 2006 Feb;4(2):156-76
pubmed: 16451772
JAMA Oncol. 2019 Jan 1;5(1):51-57
pubmed: 30128536
Int J Cancer. 2015 Aug 1;137(3):548-52
pubmed: 25583358
JAMA. 2006 Dec 13;296(22):2727-30
pubmed: 17164459
Blood. 2002 Apr 15;99(8):3075-7
pubmed: 11949635
J Natl Cancer Inst. 2018 Aug 1;110(8):855-862
pubmed: 30099541
Gynecol Oncol. 2017 Nov;147(2):375-380
pubmed: 28888541
J Natl Cancer Inst. 2021 Jul 1;113(7):875-883
pubmed: 33372952
Genet Med. 2021 Aug;23(8):1381-1390
pubmed: 34012068
Carcinogenesis. 2008 Apr;29(4):762-5
pubmed: 18281249
Hum Mol Genet. 2005 Feb 15;14(4):555-63
pubmed: 15649950
Haematologica. 2012 Mar;97(3):366-70
pubmed: 22058216
JAMA Oncol. 2022 Nov 1;8(11):1598-1606
pubmed: 36136322
Cancer Res. 2008 Apr 1;68(7):2154-7
pubmed: 18381420
Int J Cancer. 2004 Jan 20;108(3):475-6
pubmed: 14648717
Eur J Hum Genet. 2023 Apr;31(4):474-478
pubmed: 36529819
Fam Cancer. 2018 Oct;17(4):495-505
pubmed: 29445900
JCO Precis Oncol. 2020 May 4;4:
pubmed: 32923877
Mod Pathol. 2016 Nov;29(11):1381-1389
pubmed: 27443514
Int J Cancer. 2019 Jul 15;145(2):390-400
pubmed: 30613976
Genet Med. 2019 Jul;21(7):1669
pubmed: 30127414
Int J Cancer. 2016 Aug 1;139(3):601-6
pubmed: 27038244
Genet Med. 2019 Aug;21(8):1705-1707
pubmed: 30635622
Breast Cancer Res. 2016 Oct 3;18(1):98
pubmed: 27716369
J Clin Oncol. 2007 Jan 1;25(1):57-63
pubmed: 16880452
Breast Cancer Res Treat. 2017 Feb;161(3):575-586
pubmed: 28008555
N Engl J Med. 2021 Feb 4;384(5):428-439
pubmed: 33471991
J Clin Oncol. 2008 Feb 1;26(4):542-8
pubmed: 18172190
Cancer Res Treat. 2017 Apr;49(2):430-436
pubmed: 27488870
J Clin Oncol. 2006 Oct 10;24(29):4775-82
pubmed: 16840542
J Clin Oncol. 2012 Dec 10;30(35):4308-16
pubmed: 23109706
BMC Cancer. 2015 Mar 28;15:194
pubmed: 25884806
Oncotarget. 2016 Apr 19;7(16):21840-52
pubmed: 27009842
Med Oncol. 2014 Feb;31(2):828
pubmed: 24415413
Hum Mol Genet. 2007 Aug 1;16(15):1794-801
pubmed: 17517688
Breast Cancer Res Treat. 2005 Mar;90(2):187-9
pubmed: 15803365
J Natl Cancer Inst. 2018 Jul 1;110(7):714-725
pubmed: 29361001
JNCI Cancer Spectr. 2019 Apr 27;3(2):pkz027
pubmed: 31360903
J Med Genet. 2004 Oct;41(10):731-5
pubmed: 15466005
Cancer Genet. 2020 Aug;246-247:12-17
pubmed: 32805687
JAMA Oncol. 2019 Apr 01;5(4):514-522
pubmed: 30676620
Hum Mutat. 2002 Dec;20(6):460-2
pubmed: 12442270
Radiother Oncol. 2007 Mar;82(3):349-53
pubmed: 17250914
Gut. 2014 Feb;63(2):326-36
pubmed: 23946381
Genet Med. 2019 Jun;21(6):1267-1270
pubmed: 31015575
BMC Cancer. 2015 Nov 09;15:877
pubmed: 26553136
Nat Genet. 2021 Nov;53(11):1577-1585
pubmed: 34741162
Br J Cancer. 2014 Jan 21;110(2):535-45
pubmed: 24346285
Neoplasma. 2011;58(5):392-5
pubmed: 21744992
Breast Cancer Res Treat. 2020 Jul;182(2):421-428
pubmed: 32445176
Fam Cancer. 2006;5(4):305-8
pubmed: 16858628
Genet Med. 2020 Mar;22(3):633-639
pubmed: 31616070
Breast Cancer Res Treat. 2020 Apr;180(2):503-509
pubmed: 31993860
Cancer Res. 2004 Apr 15;64(8):2677-9
pubmed: 15087378
Int J Cancer. 2010 Jun 15;126(12):3005-9
pubmed: 19876921
Prostate. 2019 Mar;79(4):333-339
pubmed: 30450585
Genet Med. 2017 May;19(5):599-603
pubmed: 27711073
J Clin Oncol. 2016 Dec;34(34):4071-4078
pubmed: 27621404
Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168
pubmed: 31263054
Nat Genet. 2019 Apr;51(4):579
pubmed: 30926967
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Science. 1998 Dec 4;282(5395):1893-7
pubmed: 9836640
Ann Oncol. 2019 Aug 1;30(8):1221-1231
pubmed: 31050713
Genet Med. 2021 Jun;23(6):1004-1007
pubmed: 33649579
Genet Med. 2012 Feb;14(2):191-200
pubmed: 22261755
Genet Med. 2022 Sep;24(9):1867-1877
pubmed: 35657381
N Engl J Med. 2021 Feb 4;384(5):440-451
pubmed: 33471974
Sci Rep. 2021 Mar 5;11(1):5307
pubmed: 33674644
J Clin Oncol. 2023 Mar 20;41(9):1703-1713
pubmed: 36623243
Int J Cancer. 2020 Nov 15;147(10):2793-2800
pubmed: 32875559
Cancer Res. 2022 Feb 15;82(4):615-631
pubmed: 34903604
Breast Cancer Res Treat. 2010 May;121(1):203-10
pubmed: 19763819
J Med Genet. 2019 Jun;56(6):347-357
pubmed: 30962250
BMC Cancer. 2017 Sep 5;17(1):620
pubmed: 28874143
J Eur Acad Dermatol Venereol. 2021 Feb;35(2):353-359
pubmed: 32531112
Hered Cancer Clin Pract. 2022 Jan 31;20(1):5
pubmed: 35101071
Genet Med. 2009 Jan;11(1):3-14
pubmed: 18813139
J Clin Oncol. 2016 Apr 10;34(11):1208-16
pubmed: 26884562
J Clin Oncol. 2020 Dec 20;38(36):4274-4282
pubmed: 33119476
Am J Hum Genet. 2023 Mar 2;110(3):475-486
pubmed: 36827971
J Clin Oncol. 2018 Jul 10;36(20):2078-2087
pubmed: 29847298
DNA Cell Biol. 2009 Jan;28(1):9-12
pubmed: 18834326
Eur J Hum Genet. 2007 Feb;15(2):237-41
pubmed: 17106448
Asian Pac J Cancer Prev. 2012;13(5):2051-5
pubmed: 22901170
J Clin Oncol. 2007 Jan 1;25(1):64-9
pubmed: 17132695
Crit Rev Oncol Hematol. 2021 Jan;157:103201
pubmed: 33333149
Nat Commun. 2020 Dec 14;11(1):6383
pubmed: 33318493
JAMA Oncol. 2020 Apr 1;6(4):e196400
pubmed: 32027353
J Med Genet. 2020 Jul;57(7):500-504
pubmed: 30858171
Breast Cancer Res Treat. 2012 Apr;132(3):937-45
pubmed: 21701879
Br J Cancer. 2008 Feb 26;98(4):728-33
pubmed: 18253122
Fam Cancer. 2021 Jan;20(1):49-53
pubmed: 32451744
Breast Cancer Res Treat. 2014 Dec;148(3):675-83
pubmed: 25414026
Nat Genet. 2002 May;31(1):55-9
pubmed: 11967536
JAMA Oncol. 2022 Apr 01;8(4):587-596
pubmed: 35175286
Int J Cancer. 2019 Aug 1;145(3):686-693
pubmed: 30672594
Prostate. 2018 Jun;78(8):607-615
pubmed: 29520813
Clin Genet. 2009 Jan;75(1):72-8
pubmed: 19021634
Eur J Hum Genet. 2014 Jan;22(1):46-51
pubmed: 23652375
Eur Urol. 2021 Aug;80(2):134-138
pubmed: 33941403
Nat Genet. 2017 Oct;49(10):1476-1486
pubmed: 28825726
Fam Cancer. 2009;8(4):473-8
pubmed: 19609724
Lancet Oncol. 2018 Jun;19(6):785-798
pubmed: 29753700
JAMA Netw Open. 2021 Nov 1;4(11):e2135135
pubmed: 34792595
Sci Rep. 2020 Aug 11;10(1):13518
pubmed: 32782288
Breast Cancer Res Treat. 2004 Jan;83(1):91-3
pubmed: 14997059
Neoplasma. 2012;59(6):622-30
pubmed: 22862163
Prostate. 2018 Apr;78(5):401-407
pubmed: 29368341
J Natl Cancer Inst. 2020 Dec 14;112(12):1275-1279
pubmed: 32119081
JNCI Cancer Spectr. 2021 Jan 23;5(2):
pubmed: 34308104
J Clin Oncol. 2016 Dec;34(34):4186-4187
pubmed: 27551136
N Engl J Med. 2020 May 28;382(22):2091-2102
pubmed: 32343890
Clin Cancer Res. 2016 Aug 1;22(15):3810-20
pubmed: 26994145
Genet Med. 2018 Jan;20(1):119-127
pubmed: 28726808
Eur J Cancer. 2011 Nov;47(17):2546-51
pubmed: 21807500
J Surg Res. 2020 Dec;256:267-271
pubmed: 32712440
Genome Med. 2016 Dec 23;8(1):133
pubmed: 28007021
Mol Diagn Ther. 2018 Aug;22(4):397-407
pubmed: 29909568
Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):207-11
pubmed: 26483394
JCO Precis Oncol. 2020 Aug 21;4:
pubmed: 32923912
Genet Med. 2016 Sep;18(9):876-81
pubmed: 26890453
Genet Med. 2013 Mar;15(3):234-45
pubmed: 23429433
J Clin Oncol. 2020 Jun 20;38(18):2080-2106
pubmed: 32243226
Fam Cancer. 2014 Jun;13(2):291-9
pubmed: 24072553
Fam Cancer. 2013 Sep;12(3):473-8
pubmed: 23296741
Eur J Cancer. 2009 Mar;45(4):618-24
pubmed: 18996005
J Med Genet. 2011 Dec;48(12):860-3
pubmed: 22058428
Int J Cancer. 2019 Oct 1;145(7):1782-1797
pubmed: 31050813
N Engl J Med. 2019 Aug 15;381(7):668-676
pubmed: 31412182
Int J Cancer. 2005 Feb 10;113(4):575-80
pubmed: 15472904
Genome Med. 2022 May 18;14(1):51
pubmed: 35585550
Genet Med. 2022 Mar;24(3):601-609
pubmed: 34906489
Am J Hum Genet. 2003 May;72(5):1308-14
pubmed: 12690581
J Clin Oncol. 2016 Aug 10;34(23):2750-60
pubmed: 27269948
N Engl J Med. 2016 Aug 4;375(5):443-53
pubmed: 27433846
Fam Cancer. 2022 Jul;21(3):305-308
pubmed: 34622392
Hum Mutat. 2019 May;40(5):631-648
pubmed: 30851065
Genet Med. 2022 Mar;24(3):549-551
pubmed: 34906472
Genet Med. 2022 Dec;24(12):2587-2590
pubmed: 36222830