A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing

Genetics in Medicine

Volumn 15, Issue 12, 2013, Pages 1004-1007

  Pritchard, Colin C ^a   Smith, Christina ^a   Marushchak, Tatyana ^a   Koehler, Karen ^a   Holmes, Heidi ^b   Raskind, Wendy ^b   Walsh, Tom ^b   Bennett, Robin L ^b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

ColoSeq; Cowden syndrome; massively parallel sequencing; mosaic; mosaicism; next generation sequencing; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; ARTICLE; CASE REPORT; CEREBELLUM TUMOR; CEREBROVASCULAR ACCIDENT; COWDEN SYNDROME; DNA EXTRACTION; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; LHERMITTE DUCLOS DISEASE; LIMIT OF DETECTION; MACROCEPHALY; MOSAICISM; POLYMERASE CHAIN REACTION; PROMOTER REGION; SEQUENCE ALIGNMENT; SKIN FIBROBLAST;

ADULT; CELLS, CULTURED; CEREBELLAR NEOPLASMS; FEMALE; FRAMESHIFT MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOSAICISM; PTEN PHOSPHOHYDROLASE;

EID: 84890067177     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.51     Document Type: Article

References (19)

1. Eng C. PTEN: One gene, many syndromes. Hum Mutat 2003;22:183-198
2. Aretz S, Stienen D, Friedrichs N, et al. Somatic APC mosaicism: A frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 2007;28:985-992
3. Evans DG. Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genet Med 2009;11: 599-610
4. Gammon A, Jasperson K, Pilarski R, Prior T, Kuwada S. PTEN mosaicism with features of Cowden syndrome. Clin Genet 2012; e-pub ahead of print 18 December 2012
5. Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 2000;9:765-768
6. Mamanova L, Coffey AJ, Scott CE, et al. Target-enrichment strategies for nextgeneration sequencing. Nat Methods 2010;7:111-118
7. Pritchard CC, Smith C, Salipante SJ, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012;14:357-366
8. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-1760
9. Li H, Ruan J, Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 2008;18:1851-1858
10. Walsh T, Lee MK, Casadei S, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 2010;107:12629-12633
11. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-Throughput sequence data. BMC Genomics 2011;12:184
12. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297-1303
13. Koboldt DC, Zhang Q, Larson DE, et al. VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012;22:568-576
14. Schmitt MW, Kennedy SR, Salk JJ, Fox EJ, Hiatt JB, Loeb LA. Detection of ultra-rare mutations by next-generation sequencing. Proc Natl Acad Sci USA 2012;109:14508-14513
15. Ruark E, Snape K, Humburg P, et al.; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013;493:406-410
16. Orloff MS, He X, Peterson C, et al. Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am J Hum Genet 2013; 92:76-80
17. Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012;90: 1108-1115
18. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365: 611-619
19. Mester J, Eng C. Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med 2012;14:819-822