Functional Common and Rare
Adolescent
Adult
Aged
Biomarkers, Tumor
/ genetics
Child
DNA Mutational Analysis
Exome
Female
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation
Humans
Male
Neoplastic Syndromes, Hereditary
/ genetics
Pedigree
Receptor, ErbB-2
/ genetics
Exome Sequencing
Young Adult
Journal
Cancer prevention research (Philadelphia, Pa.)
ISSN: 1940-6215
Titre abrégé: Cancer Prev Res (Phila)
Pays: United States
ID NLM: 101479409
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
26
02
2020
revised:
21
08
2020
accepted:
28
12
2020
pubmed:
10
1
2021
medline:
8
3
2022
entrez:
9
1
2021
Statut:
ppublish
Résumé
We investigated a Spanish and Catalan family in which multiple cancer types tracked across three generations, but for which no genetic etiology had been identified. Whole-exome sequencing of germline DNA from multiple affected family members was performed to identify candidate variants to explain this occurrence of familial cancer. We discovered in all cancer-affected family members a single rare heterozygous germline variant (I654V, rs1801201) in
Identifiants
pubmed: 33419763
pii: 1940-6207.CAPR-20-0094
doi: 10.1158/1940-6207.CAPR-20-0094
pmc: PMC8026518
mid: NIHMS1659934
doi:
Substances chimiques
Biomarkers, Tumor
0
ERBB2 protein, human
EC 2.7.10.1
Receptor, ErbB-2
EC 2.7.10.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
441-454Subventions
Organisme : NCI NIH HHS
ID : P01 CA040046
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA167824
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA129045
Pays : United States
Informations de copyright
©2021 American Association for Cancer Research.
Références
Breast Cancer Res Treat. 2009 Mar;114(2):371-6
pubmed: 18438707
Hum Genet. 2013 Oct;132(10):1077-130
pubmed: 23820649
J Thorac Oncol. 2016 Mar;11(3):414-9
pubmed: 26723242
Cell Rep. 2014 Sep 25;8(6):1714-1721
pubmed: 25220456
Breast Cancer Res Treat. 2011 Jan;125(2):597-8
pubmed: 20882402
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Oncogene. 2007 Jan 4;26(1):42-53
pubmed: 16819515
Nat Methods. 2012 Mar 04;9(4):357-9
pubmed: 22388286
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Nat Genet. 2002 May;31(1):55-9
pubmed: 11967536
Nature. 2012 Jul 18;487(7407):330-7
pubmed: 22810696
Oncogene. 2002 Jan 10;21(2):328
pubmed: 11840330
Cancer Genet Cytogenet. 2006 May;167(1):32-8
pubmed: 16682283
Cell. 2010 Apr 16;141(2):210-7
pubmed: 20403315
Carcinogenesis. 2005 Mar;26(3):643-7
pubmed: 15550452
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Saudi J Ophthalmol. 2010 Oct;24(4):119-23
pubmed: 23960888
Cancer Cell Int. 2009 Feb 18;9:5
pubmed: 19226453
Cancer. 2005 Dec 15;104(12):2817-21
pubmed: 16288491
BMC Med Genomics. 2014 Apr 23;7:20
pubmed: 24758382
Oncogene. 2007 Oct 4;26(45):6469-87
pubmed: 17471238
Genes Chromosomes Cancer. 2002 Aug;34(4):428-36
pubmed: 12112532
J Natl Cancer Inst Monogr. 2008;(38):1-93
pubmed: 18559331
Cancer Epidemiol. 2011 Dec;35(6):503-9
pubmed: 21474413
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Mol Genet Metab. 2012 Nov;107(3):611-3
pubmed: 22959829
Am J Hum Genet. 2004 Jun;74(6):1175-82
pubmed: 15122511
J Clin Oncol. 2008 Feb 1;26(4):542-8
pubmed: 18172190
Sci Rep. 2018 May 9;8(1):7427
pubmed: 29743533
Neoplasia. 2003 Mar-Apr;5(2):128-34
pubmed: 12659685
Schizophr Res. 2018 May;195:519-528
pubmed: 28943096
Science. 1989 May 12;244(4905):707-12
pubmed: 2470152
Clin Cancer Res. 2019 Mar 1;25(5):1517-1525
pubmed: 30425093
Breast. 2016 Dec;30:191-196
pubmed: 27788409
Mol Genet Metab. 2015 Dec;116(4):269-74
pubmed: 26527160
Cancer Epidemiol Biomarkers Prev. 2009 Jan;18(1):255-9
pubmed: 19124506
Genet Med. 2017 May;19(5):599-603
pubmed: 27711073
Oncologist. 2015 Jan;20(1):7-12
pubmed: 25480824
Oncologist. 2018 Feb;23(2):150-154
pubmed: 29146616
JAMA Netw Open. 2020 Jul 1;3(7):e208501
pubmed: 32609350
Eur J Cancer. 1991;27(11):1372-5
pubmed: 1683776
EMBO J. 1997 Apr 1;16(7):1647-55
pubmed: 9130710
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
Breast Cancer Res. 2012 Nov 26;14(6):R150
pubmed: 23181561
Nature. 1986 Jan 16-22;319(6050):226-30
pubmed: 3945311
Mol Cell Biol. 2011 Jul;31(14):3009-18
pubmed: 21576364
J Biol Chem. 2008 Mar 14;283(11):6950-6
pubmed: 18178548
Cells. 2014 Jan 27;3(1):53-78
pubmed: 24709902
N Engl J Med. 2001 Mar 15;344(11):783-92
pubmed: 11248153
Hum Mutat. 2003 Mar;21(3):313-20
pubmed: 12619118
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
BMC Bioinformatics. 2012 Jan 12;13:8
pubmed: 22239737
J Natl Cancer Inst. 2014 Jan;106(1):djt338
pubmed: 24317180
J Thorac Oncol. 2020 Dec;15(12):1871-1879
pubmed: 32866655
Expert Rev Mol Diagn. 2004 May;4(3):293-302
pubmed: 15137897
Breast Cancer Res Treat. 2011 Jan;125(1):237-41
pubmed: 20524057
EMBO J. 1996 Jan 15;15(2):254-64
pubmed: 8617201
J Mol Biol. 2010 Jul 9;400(2):231-43
pubmed: 20471394
Eur J Cancer. 2016 Mar;55:27-37
pubmed: 26773371
Clin Exp Metastasis. 2011 Mar;28(3):271-82
pubmed: 21203803