Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 42, 2014, Pages 15172-15177

  Kiiski, Johanna I ^a   Pelttari, Liisa M ^a   Khan, Sofia ^a   Freysteinsdottir, Edda S ^b   Reynisdottir, Inga ^b,c   Hart, Steven N ^d   Shimelis, Hermela ^d   Vilske, Sara ^a   Kallioniemi, Anne ^e   Schleutker, Johanna ^e,f   Leminen, Arto ^a   Bützow, Ralf ^a,g   Blomqvist, Carl ^g   Barkardottir, Rosa B ^b,c   Couch, Fergus J ^d   Aittomäki, Kristiina ^g   Nevanlinna, Heli ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^c UNIVERSITY OF ICELAND   (Iceland)

^d MAYO CLINIC   (United States)

^e TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^f UNIVERSITY OF TURKU   (Finland)

^g HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Breast cancer; DNA repair; Exome sequencing; FANCM; Triple negative breast cancer

Indexed keywords

DNA HELICASE; FANCM PROTEIN, HUMAN; MESSENGER RNA; STOP CODON;

AGED; ALLELE; BIOLOGICAL MODEL; CASE CONTROL STUDY; EXOME; FEMALE; FINLAND; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOTYPE; HUMAN; METABOLISM; MIDDLE AGED; MUTATION; ODDS RATIO; OVARY TUMOR; RISK ASSESSMENT; STOP CODON; TRIPLE NEGATIVE BREAST CANCER; TUMOR SUPPRESSOR GENE;

AGED; ALLELES; CASE-CONTROL STUDIES; CODON, NONSENSE; DNA HELICASES; EXOME; FEMALE; FINLAND; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; MIDDLE AGED; MODELS, GENETIC; MUTATION; ODDS RATIO; OVARIAN NEOPLASMS; RISK ASSESSMENT; RNA, MESSENGER; TRIPLE NEGATIVE BREAST NEOPLASMS;

EID: 84908031249     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1407909111     Document Type: Article

References (39)

1. Jemal A, et al. (2011) Global cancer statistics. CA Cancer J Clin 61(2):69-90.
2. Doyle C, et al.; 2006 Nutrition, Physical Activity and Cancer Survivorship Advisory Committee; American Cancer Society (2006) Nutrition and physical activity during and after cancer treatment: An American Cancer Society guide for informed choices. CA Cancer J Clin 56(6):323-353.
3. Ferlay J, et al. (2010) Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 127(12):2893-2917.
4. Foulkes WD (2008) Inherited susceptibility to common cancers. N Engl J Med 359(20):2143-2153.
5. Fletcher O, Houlston RS (2010) Architecture of inherited susceptibility to common cancer. Nat Rev Cancer 10(5):353-361.
6. Antoniou AC, et al. (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371(6):497-506.
7. Michailidou K, et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45(4):353-361.
8. Snape K, et al. (2012) Predisposition gene identification in common cancers by exome sequencing: Insights from familial breast cancer. Breast Cancer Res Treat 134(1):429-433.
9. Bodmer W, Bonilla C (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40(6):695-701.
10. Gibson G (2011) Rare and common variants: Twenty arguments. Nat Rev Genet 13(2):135-145.
11. McKinnon PJ (2012) ATM and the molecular pathogenesis of ataxia telangiectasia. Annu Rev Pathol 7:303-321.
12. Kee Y, D'Andrea AD (2012) Molecular pathogenesis and clinical management of Fanconi anemia. J Clin Invest 122(11):3799-3806.
13. D'Andrea AD (2010) Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 362(20):1909-1919.
14. Sarantaus L, et al. (2000) Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet 8(10):757-763.
15. Erkko H, et al. (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446(7133):316-319.
16. Pelttari LM, et al. (2011) RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 20(16):3278-3288.
17. Heikkinen T, et al. (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15(9):3214-3222.
18. Peltonen L, Jalanko A, Varilo T (1999) Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8(10):1913-1923.
19. Gudmundsson J, et al. (1996) Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am J Hum Genet 58(4):749-756.
20. Abecasis GR, et al.; 1000 Genomes Project Consortium (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422):56-65.
21. Wang K, Li M, Hakonarson H (2010) ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164.
22. Robinson JT, et al. (2011) Integrative genomics viewer. Nat Biotechnol 29(1):24-26.
23. Carbon S, et al.; AmiGO Hub; Web Presence Working Group (2009) AmiGO: Online access to ontology and annotation data. Bioinformatics 25(2):288-289.
24. Stevens KN, Vachon CM, Couch FJ (2013) Genetic susceptibility to triple-negative breast cancer. Cancer Res 73(7):2025-2030.
25. Purrington KS, et al.; GENICA Network (2014) Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 35(5):1012-1019.
26. Vahteristo P, et al. (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71(2):432-438.
27. Cybulski C, et al. (2011) Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol 29(28):3747-3752.
28. Liu C, Wang Y, Wang QS, Wang YJ (2012) The CHEK2 I157T variant and breast cancer susceptibility: A systematic review and meta-analysis. Asian Pac J Cancer Prev 13(4):1355-1360.
29. Blackford AN, et al. (2012) The DNA translocase activity of FANCM protects stalled replication forks. Hum Mol Genet 21(9):2005-2016.
30. Gari K, Décaillet C, Delannoy M, Wu L, Constantinou A (2008) Remodeling of DNA replication structures by the branch point translocase FANCM. Proc Natl Acad Sci USA 105(42):16107-16112.
31. Whitby MC (2010) The FANCM family of DNA helicases/translocases. DNA Repair (Amst) 9(3):224-236.
32. Meetei AR, et al. (2005) A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet 37(9):958-963.
33. Bakker ST, et al. (2009) Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M. Hum Mol Genet 18(18):3484-3495.
34. Yang H, et al. (2013) Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair. Nucleic Acids Res 41(22):10573-10583.
35. Wood LD, et al. (2007) The genomic landscapes of human breast and colorectal cancers. Science 318(5853):1108-1113.
36. Mirabello L, et al. (2011) A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma. BMC Cancer 11:209.
37. Smith CG, et al. (2013) Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Hum Mutat 34(7):1026-1034.
38. Singh TR, et al. (2009) Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. Blood 114(1):174-180.
39. Lim ET, et al. (2014) Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet 10(7):e1004494.