Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.
BRCA1
BRCA2
familial breast/ovarian cancer
next generation sequencing (NGS), whole exome sequencing (WES), whole genome sequencing (WGS), hereditary tumors
Journal
High-throughput
ISSN: 2571-5135
Titre abrégé: High Throughput
Pays: Switzerland
ID NLM: 101712192
Informations de publication
Date de publication:
10 Jan 2020
10 Jan 2020
Historique:
received:
29
11
2019
revised:
02
01
2020
accepted:
07
01
2020
entrez:
16
1
2020
pubmed:
16
1
2020
medline:
16
1
2020
Statut:
epublish
Résumé
Next generation sequencing (NGS) provides a powerful tool in the field of medical genetics, allowing one to perform multi-gene analysis and to sequence entire exomes (WES), transcriptomes or genomes (WGS). The generated high-throughput data are particularly suitable for enhancing the understanding of the genetic bases of complex, multi-gene diseases, such as cancer. Among the various types of tumors, those with a familial predisposition are of great interest for the isolation of novel genes or gene variants, detectable at the germline level and involved in cancer pathogenesis. The identification of novel genetic factors would have great translational value, helping clinicians in defining risk and prevention strategies. In this regard, it is known that the majority of breast/ovarian cases with familial predisposition, lacking variants in the highly penetrant BRCA1 and BRCA2 genes (non-BRCA), remains unexplained, although several less penetrant genes (e.g., ATM, PALB2) have been identified. In this scenario, NGS technologies offer a powerful tool for the discovery of novel factors involved in familial breast/ovarian cancer. In this review, we summarize and discuss the state of the art applications of NGS gene panels, WES and WGS in the context of familial breast/ovarian cancer.
Identifiants
pubmed: 31936873
pii: ht9010001
doi: 10.3390/ht9010001
pmc: PMC7151204
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Genomics. 1999 Dec 15;62(3):369-76
pubmed: 10644434
Int J Mol Sci. 2017 Jan 31;18(2):
pubmed: 28146134
Cancer Discov. 2014 Jul;4(7):804-15
pubmed: 25050558
Science. 1994 Sep 30;265(5181):2088-90
pubmed: 8091231
Pathology. 2017 Jun;49(4):363-370
pubmed: 28450088
Eur J Hum Genet. 2007 Jun;15(6):619-27
pubmed: 17342152
Elife. 2015 Jul 21;4:
pubmed: 26194807
Chin J Cancer. 2012 Oct;31(10):463-70
pubmed: 22980418
Mol Diagn Ther. 2019 Feb;23(1):121-126
pubmed: 30506513
Hum Mutat. 2016 Sep;37(9):835-46
pubmed: 27226120
Nat Genet. 2017 May;49(5):680-691
pubmed: 28346442
Breast Cancer Res Treat. 2017 Feb;161(3):597-604
pubmed: 27913932
Gynecol Oncol. 2019 May;153(2):452-462
pubmed: 30733081
Oncotarget. 2017 Jul 18;8(29):47064-47075
pubmed: 28423363
Lancet. 2017 Oct 28;390(10106):1949-1961
pubmed: 28916367
Clin Transl Oncol. 2015 Jul;17(7):576-80
pubmed: 25586199
Am J Hum Genet. 2012 Apr 6;90(4):734-9
pubmed: 22464251
J Transl Med. 2017 Dec 08;15(1):246
pubmed: 29221448
Nat Genet. 2013 Apr;45(4):353-61, 361e1-2
pubmed: 23535729
Cancer. 2019 Aug 15;125(16):2829-2836
pubmed: 31206626
JAMA Oncol. 2019 Jan 1;5(1):51-57
pubmed: 30128536
Science. 2013 Feb 22;339(6122):959-61
pubmed: 23348503
Cold Spring Harb Symp Quant Biol. 2005;70:35-41
pubmed: 16869736
Nucleic Acids Res. 2002 Jun 15;30(12):e57
pubmed: 12060695
Ann Oncol. 2015 Jul;26(7):1291-9
pubmed: 25605744
Onco Targets Ther. 2016 Dec 02;9:7355-7365
pubmed: 27980425
ESMO Open. 2016 Nov 18;1(5):e000094
pubmed: 27933214
Eur J Hum Genet. 2016 Sep;24 Suppl 1:S10-8
pubmed: 27514839
Nat Genet. 2015 Apr;47(4):373-80
pubmed: 25751625
Int J Cancer. 2019 Jul 15;145(2):390-400
pubmed: 30613976
PLoS Genet. 2012 Sep;8(9):e1002894
pubmed: 23028338
Nature. 2014 Aug 7;512(7512):87-90
pubmed: 25079323
J Mol Diagn. 2016 Sep;18(5):657-667
pubmed: 27376475
Breast Cancer Res Treat. 2017 Feb;162(1):199-200
pubmed: 28091860
J Transl Med. 2018 Jun 7;16(1):158
pubmed: 29879995
Int J Mol Sci. 2017 Nov 22;18(11):
pubmed: 29165356
Nat Rev Cancer. 2016 Sep;16(9):599-612
pubmed: 27515922
Nat Genet. 2015 Jun;47(6):643-6
pubmed: 25915596
Am J Clin Pathol. 2014 Jun;141(6):856-66
pubmed: 24838331
Oncotarget. 2018 Sep 14;9(72):33648-33655
pubmed: 30263092
Eur J Hum Genet. 2016 Nov;24(11):1591-1597
pubmed: 27273131
Nat Rev Genet. 2011 Sep 27;12(11):745-55
pubmed: 21946919
Sci Rep. 2019 Mar 1;9(1):3219
pubmed: 30824715
J Mol Diagn. 2012 May-Jun;14(3):286-93
pubmed: 22426013
J Clin Oncol. 2016 May 1;34(13):1460-8
pubmed: 26976419
Front Genet. 2019 Feb 12;10:49
pubmed: 30809243
Clin Chim Acta. 2015 Jun 15;446:221-5
pubmed: 25896959
Nat Genet. 2015 Feb;47(2):164-71
pubmed: 25581431
J Mol Diagn. 2017 Nov;19(6):905-920
pubmed: 28818680
Nature. 2007 Jun 28;447(7148):1087-93
pubmed: 17529967
J Mol Diagn. 2012 Sep;14(5):467-75
pubmed: 22874498
Front Genet. 2019 Oct 18;10:1005
pubmed: 31681433
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7
pubmed: 25288723
Eur J Hum Genet. 2016 Jan;25(1):85-93
pubmed: 27782108
N Engl J Med. 2015 Jun 4;372(23):2243-57
pubmed: 26014596
Nat Genet. 2012 May 29;44(6):623-30
pubmed: 22641211
Int J Cancer. 2019 Apr 15;144(8):1962-1974
pubmed: 30303537
Nat Genet. 1995 Jun;10(2):208-12
pubmed: 7663517
Hered Cancer Clin Pract. 2019 Sep 11;17:27
pubmed: 31528241
BMC Med Genomics. 2015 May 07;8:19
pubmed: 25948282
Mol Genet Genomic Med. 2015 Mar;3(2):121-9
pubmed: 25802882
Nat Rev Genet. 2014 Sep;15(9):574-5
pubmed: 25091869
Genes Chromosomes Cancer. 2002 Sep;35(1):86-91
pubmed: 12203794
Nat Genet. 2009 May;41(5):579-84
pubmed: 19330030
Nat Genet. 2009 Mar;41(3):324-8
pubmed: 19219042
PLoS Genet. 2015 May 06;11(5):e1005228
pubmed: 25945795
Ann Oncol. 2019 Jul 1;30(7):1071-1079
pubmed: 31090900
N Engl J Med. 2017 Aug 10;377(6):523-533
pubmed: 28578601
Cancer Epidemiol Biomarkers Prev. 2018 Apr;27(4):395-404
pubmed: 28615364
Br J Cancer. 2015 Feb 17;112(4):765-8
pubmed: 25633036
Nature. 2013 Oct 17;502(7471):333-339
pubmed: 24132290
NPJ Breast Cancer. 2017 Jun 9;3:22
pubmed: 28649662
Breast Cancer Res. 2011 Feb 28;13(1):R20
pubmed: 21356067
PeerJ. 2019 Apr 22;7:e6661
pubmed: 31065452
Cancer Sci. 2019 Jan;110(1):6-15
pubmed: 30338623
Breast. 2017 Dec;36:74-78
pubmed: 29020660
Science. 1994 Oct 7;266(5182):66-71
pubmed: 7545954
CA Cancer J Clin. 2018 Nov;68(6):394-424
pubmed: 30207593
BMC Genet. 2013 Feb 19;14:6
pubmed: 23418865
Nat Rev Genet. 2010 Jun;11(6):415-25
pubmed: 20479773
JAMA Netw Open. 2018 Sep 7;1(5):e182140
pubmed: 30646163
Nat Genet. 2012 Jan 22;44(3):312-8
pubmed: 22267197
N Engl J Med. 2018 Aug 23;379(8):753-763
pubmed: 30110579
Oncol Lett. 2016 Aug;12(2):1192-1196
pubmed: 27446417
Nature. 2012 Jan 11;481(7382):506-10
pubmed: 22237025
Nat Genet. 2010 Jun;42(6):504-7
pubmed: 20453838