Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.
cell-free DNA
genetic predisposition
hereditary cancer syndromes
liquid biopsy
surveillance
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
05 10 2023
05 10 2023
Historique:
received:
14
04
2023
revised:
15
08
2023
accepted:
22
08
2023
medline:
9
10
2023
pubmed:
7
10
2023
entrez:
6
10
2023
Statut:
ppublish
Résumé
At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic germline genetic variant (hereditary cancer syndrome-HCS). These individuals are burdened with lifelong surveillance monitoring organs for a wide spectrum of cancers. This is associated with substantial uncertainty and anxiety in the time between screening tests and while the individuals are awaiting results. Cell-free DNA (cfDNA) sequencing has recently shown potential as a non-invasive strategy for monitoring cancer. There is an opportunity for high-yield cancer early detection in HCS. To assess clinical validity of cfDNA in individuals with HCS, representatives from eight genetics centers from across Canada founded the CHARM (cfDNA in Hereditary and High-Risk Malignancies) Consortium in 2017. In this perspective, we discuss operationalization of this consortium and early data emerging from the most common and well-characterized HCSs: hereditary breast and ovarian cancer, Lynch syndrome, Li-Fraumeni syndrome, and Neurofibromatosis type 1. We identify opportunities for the incorporation of cfDNA sequencing into surveillance protocols; these opportunities are backed by examples of earlier cancer detection efficacy in HCSs from the CHARM Consortium. We seek to establish a paradigm shift in early cancer surveillance in individuals with HCSs, away from highly centralized, regimented medical screening visits and toward more accessible, frequent, and proactive care for these high-risk individuals.
Identifiants
pubmed: 37802042
pii: S0002-9297(23)00290-2
doi: 10.1016/j.ajhg.2023.08.014
pmc: PMC10577078
pii:
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1616-1627Subventions
Organisme : CIHR
ID : CIHR-159453
Pays : Canada
Investigateurs
Adriana Aguilar-Mahecha
(A)
Melyssa Aronson
(M)
Mark Basik
(M)
Nancy N Baxter
(NN)
Phil Bedard
(P)
Hal Berman
(H)
Marcus Q Bernardini
(MQ)
Yvonne Bombard
(Y)
Victoria Carile
(V)
Clarissa F Chan
(CF)
Tulin Cil
(T)
Blaise Clarke
(B)
Lesa Dawson
(L)
Irfan Dhalla
(I)
Christine Elser
(C)
Gabrielle Ev Ene
(GE)
Kirsten M Farncombe
(KM)
Sarah Ferguson
(S)
William D Foulkes
(WD)
Laura Genge
(L)
Robert Gryfe
(R)
Michelle R Jacobson
(MR)
Aly Karsan
(A)
Monika Kastner
(M)
Pardeep Kaurah
(P)
Raymond H Kim
(RH)
Josiane Lafleur
(J)
Jordan Lerner-Ellis
(J)
Stephanie Lheureux
(S)
Shelley M MacDonald
(SM)
Jeanna McCuaig
(J)
Brian Mckee
(B)
Nicole Mittmann
(N)
Maia L Norman
(ML)
Leslie E Oldfield
(LE)
Seema Panchal
(S)
Lynette S Penney
(LS)
Carolyn Piccinin
(C)
Aaron Pollett
(A)
Trevor J Pugh
(TJ)
Dean Regier
(D)
Zoulikha Rezoug
(Z)
Krista Rideout
(K)
Kasmintan A Schrader
(KA)
Kara Semotiuk
(K)
Sara Singh
(S)
Lillian Siu
(L)
Julia A Sobotka
(JA)
Sophie Sun
(S)
Emily Thain
(E)
Karin Wallace
(K)
Thomas Ward
(T)
Shelley Westergard
(S)
Stacy Whittle
(S)
Wei Xu
(W)
Celeste Yu
(C)
Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests William D. Foulkes has research funding from AstraZeneca. Sophie Sun has a consulting and advisory relationship with Novartis, Bristol-Myers Squibb, Pfizer, Purdue, Takeda, and AstraZeneca. Kasmintan A. Schrader has a consulting and advisory relationship with and has received honoraria from AstraZeneca Canada and Pfizer and research funding from AstraZeneca Canada. Dean Regier has a consulting/advisory relationship with Roche Canada and AstraZeneca. Trevor J. Pugh has a consulting and advisory relationship with Chrysalis Biomedical Advisors and the Canadian Pension Plan Investment Board, is on the scientific advisory board for Illumina, has received honoraria from AstraZeneca, Merck, PACT Pharma, and SAGA Diagnostics, and has research funding from Roche (Genentech), the National Institutes of Health, and the US Department of Defense. Yvonne Bombard has ownership interests and intellectual property rights as an inventor and patent holder with Genetics Adviser. The other authors declare no competing interests.
Références
Mol Cancer. 2017 Apr 14;16(1):80
pubmed: 28410618
N Engl J Med. 2015 Jun 25;372(26):2509-20
pubmed: 26028255
Eur Urol Open Sci. 2021 Mar 26;27:77-87
pubmed: 34337517
Ther Adv Med Oncol. 2017 Aug;9(8):519-531
pubmed: 28794804
Neuro Oncol. 2021 Sep 1;23(9):1494-1508
pubmed: 33560371
JAMA Netw Open. 2021 Sep 1;4(9):e2123616
pubmed: 34499134
Cancers (Basel). 2020 Jun 06;12(6):
pubmed: 32517171
Patient Educ Couns. 2021 Feb;104(2):403-412
pubmed: 32782180
Genet Med. 2010 Dec;12(12):801-7
pubmed: 20921896
Hered Cancer Clin Pract. 2011 Sep 07;9:8
pubmed: 21899746
J Natl Compr Canc Netw. 2021 Oct 15;19(10):1122-1132
pubmed: 34666312
Neuro Oncol. 2010 Feb;12(2):173-80
pubmed: 20150384
Int J Mol Sci. 2022 Apr 13;23(8):
pubmed: 35457101
J Natl Cancer Inst. 2019 Jun 1;111(6):575-583
pubmed: 30496436
J Clin Oncol. 2016 Jun 10;34(17):1978-86
pubmed: 26926675
Br J Cancer. 2022 Feb;126(3):371-378
pubmed: 34811503
Cancer Discov. 2020 May;10(5):664-673
pubmed: 32111602
J Clin Oncol. 2015 Apr 1;33(10):1128-35
pubmed: 25713430
Breast Cancer Res Treat. 2011 Feb;125(3):837-47
pubmed: 20644999
J Transl Med. 2023 Feb 11;21(1):118
pubmed: 36774504
J Clin Med. 2020 Nov 16;9(11):
pubmed: 33207619
World J Gastroenterol. 2021 May 7;27(17):1943-1958
pubmed: 34007132
Eur J Oncol Nurs. 2022 Jun;58:102117
pubmed: 35306248
Eur J Hum Genet. 2020 Oct;28(10):1379-1386
pubmed: 32457520
Nat Commun. 2017 Nov 6;8(1):1324
pubmed: 29109393
Ann Oncol. 2023 Jan;34(1):33-47
pubmed: 36307055
Genes Cancer. 2011 Apr;2(4):475-84
pubmed: 21779515
Hum Mutat. 2014 Jun;35(6):654-62
pubmed: 24706533
Womens Health (Lond). 2018 Jan-Dec;14:1745505717750694
pubmed: 29313444
Ont Health Technol Assess Ser. 2020 Mar 06;20(5):1-176
pubmed: 32206157
Nat Commun. 2019 Oct 11;10(1):4666
pubmed: 31604930
Cancers (Basel). 2020 Jul 11;12(7):
pubmed: 32664613
NPJ Genom Med. 2016 Jan 13;1:15006
pubmed: 29263804
Genome Med. 2020 Jun 24;12(1):54
pubmed: 32580754
Nat Med. 2020 Jul;26(7):1044-1047
pubmed: 32572265
Nat Cancer. 2020 Mar;1(3):276-290
pubmed: 35122035
Sci Transl Med. 2018 Nov 7;10(466):
pubmed: 30404863
Proc Natl Acad Sci U S A. 2018 Nov 13;115(46):E10925-E10933
pubmed: 30373822
J Med Genet. 2020 Jun 22;:
pubmed: 32571901
BMC Womens Health. 2014 Dec 12;14:150
pubmed: 25494812
Clin Cancer Res. 2017 Jun 15;23(12):e46-e53
pubmed: 28620004
N Engl J Med. 2020 Apr 9;382(15):1430-1442
pubmed: 32187457
J Clin Oncol. 2010 Dec 20;28(36):5265-73
pubmed: 21079137
Nat Med. 2020 Jul;26(7):1114-1124
pubmed: 32483360
BMC Pregnancy Childbirth. 2021 Aug 24;21(1):585
pubmed: 34429082
Curr Oncol. 2022 Apr 02;29(4):2490-2503
pubmed: 35448177
Front Cell Dev Biol. 2021 Feb 22;9:639233
pubmed: 33693004
Nat Protoc. 2019 Oct;14(10):2749-2780
pubmed: 31471598
Nature. 2019 Jun;570(7761):385-389
pubmed: 31142840
Ann Oncol. 2020 Jun;31(6):745-759
pubmed: 33506766
Lancet Oncol. 2016 Sep;17(9):1295-305
pubmed: 27501770
Genet Med. 2015 Sep;17(9):726-32
pubmed: 25503500
J Clin Oncol. 2015 Jul 20;33(21):2345-52
pubmed: 26014290
Nature. 2022 Aug;608(7921):199-208
pubmed: 35859180
J Natl Compr Canc Netw. 2019 Sep 1;17(9):1032-1041
pubmed: 31487681
Sci Rep. 2021 May 24;11(1):10761
pubmed: 34031447
Oncotarget. 2016 Jul 26;7(30):48832-48841
pubmed: 27223063
Nat Commun. 2021 Jun 18;12(1):3770
pubmed: 34145282
Nature. 2014 Jan 16;505(7483):302-8
pubmed: 24429628
Clinicoecon Outcomes Res. 2020 Feb 13;12:115-122
pubmed: 32104023
Front Oncol. 2021 Mar 11;11:599602
pubmed: 33777743
Cell. 2016 Jan 14;164(1-2):57-68
pubmed: 26771485
Lung Cancer. 2023 Apr;178:28-36
pubmed: 36773458
Genet Med. 2017 Sep;19(9):1064-1070
pubmed: 28301458
CA Cancer J Clin. 2018 May;68(3):217-231
pubmed: 29485237
Clin Cancer Res. 2017 Jun 1;23(11):e38-e45
pubmed: 28572266
Eur J Med Genet. 2021 Dec;64(12):104350
pubmed: 34606975
Biomark Res. 2021 Apr 16;9(1):26
pubmed: 33863389
CMAJ. 2017 Jun 19;189(24):E843-E844
pubmed: 28630366
J Genet Couns. 2016 Oct;25(5):978-92
pubmed: 26758254
Genome Med. 2013 Apr 05;5(4):30
pubmed: 23561577
Pediatr Blood Cancer. 2021 Aug;68(8):e29021
pubmed: 33788392
Mol Cancer. 2022 May 11;21(1):114
pubmed: 35545786
Fam Cancer. 2010 Dec;9(4):647-54
pubmed: 20658357
Ther Adv Med Oncol. 2022 Jul 26;14:17588359221112696
pubmed: 35923926
Genet Med. 2018 Jul;20(7):671-682
pubmed: 30006586
Br J Cancer. 2012 Jun 26;107(1):24-30
pubmed: 22588560
Nat Rev Clin Oncol. 2019 Jul;16(7):409-424
pubmed: 30796368
Lung Cancer. 2016 Oct;100:110-113
pubmed: 27597289
Eur J Hum Genet. 2023 Oct 11;:
pubmed: 37821757
Cancer Discov. 2023 Mar 1;13(3):654-671
pubmed: 36598417
Am J Mens Health. 2017 Sep;11(5):1444-1459
pubmed: 26468160
EMBO Mol Med. 2021 Aug 9;13(8):e12881
pubmed: 34291583
Crit Rev Oncol Hematol. 2012 Sep;83(3):329-40
pubmed: 22366115
J Clin Oncol. 2020 Jun 20;38(18):2080-2106
pubmed: 32243226
Nat Commun. 2020 Jul 21;11(1):3475
pubmed: 32694610
Cancers (Basel). 2022 Jun 15;14(12):
pubmed: 35740615
PLoS Med. 2021 Aug 31;18(8):e1003734
pubmed: 34464388
J Cancer Res Clin Oncol. 2023 Apr;149(4):1495-1511
pubmed: 35532791
Clin Cancer Res. 2021 Jun 1;27(11):3094-3105
pubmed: 33558422
Proc Natl Acad Sci U S A. 2022 Nov;119(44):e2209852119
pubmed: 36288287
Hered Cancer Clin Pract. 2015 Mar 19;13(1):10
pubmed: 25806095
Oncologist. 2022 May 6;27(5):e393-e401
pubmed: 35385106
N Engl J Med. 2016 Feb 4;374(5):454-68
pubmed: 26840135
J Pers Med. 2014 Feb 18;4(1):20-34
pubmed: 25562140
Soc Sci Med. 2022 May;301:114905
pubmed: 35367908
Lancet Oncol. 2011 Jun;12(6):559-67
pubmed: 21601526
Expert Rev Mol Diagn. 2015;15(12):1631-44
pubmed: 26559503