Heterozygous Mutations in DNA Repair Genes and Hereditary Breast Cancer: A Question of Power
article has not abstract
Vyšlo v časopise:
Heterozygous Mutations in DNA Repair Genes and Hereditary Breast Cancer: A Question of Power. PLoS Genet 8(9): e32767. doi:10.1371/journal.pgen.1003008
Kategorie:
Perspective
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pgen.1003008
Souhrn
article has not abstract
Zdroje
1. OffitK (2011) Personalized medicine: new genomics, old lessons. Hum Genet 130: 3–14.
2. BamshadMJ, NgSB, BighamAW, TaborHK, EmondMJ, et al. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745–755.
3. KiezunA, GarimellaK, DoR, StitzielNO, NealeBM, et al. (2012) Exome sequencing and the genetic basis of complex traits. Nat Genet 44: 623–630.
4. RobsonM, OffitK (2007) Clinical Practice. Management of an inherited predisposition to breast cancer. N Engl J Med 357: 154–62.
5. KauffND, SatagopanJM, RobsonME, ScheuerL, HensleyM, et al. (2002) Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346: 1609–1615.
6. AntoniouAC, PharoahPD, McMullanG, DayNE, PonderBA, et al. (2001) Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 21: 1–18.
7. ThompsonD, SzaboCI, MangionJ, OldenburgRA, OdefreyF, et al. (2001) Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci U S A 99: 827–831.
8. StadlerZK, ThomP, RobsonME, WeitzelJN, KauffND, et al. (2010) Genome-wide association studies of cancer. J Clin Oncol 28(27):4255–67.
9. ThompsonER, DoyleMA, RylandGL, RowleySM, ChoongDYH, et al. (2012) Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet e1002894 doi:10.1371/journal.pgen.1002894.
10. ParkDJ, LesueurF, Nguyen-DumontT, PertesiM, OdefreyF, et al. (2012) Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 90: 734–739.
11. Meijers-HeijboerH, van den OuwelandA, KlijnJ, WasielewskiM, de SnooA, et al. (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55–59.
12. LevranO, AttwoollC, HenryRT, MiltonKL, NevelingK, et al. (2005) The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37: 931–933.
13. RenwickA, ThompsonD, SealS, KellyP, ChagtaiT, et al. (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38: 873–875.
14. SealS, ThompsonD, RenwickA, ElliottA, KellyP, et al. (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39: 165–167.
15. MeindlA, HellebrandH, WiekC, ErvenV, WappenschmidtB, et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42: 410–414.
16. LovedayC, TurnbullC, RamsayE, HughesD, RuarkE, et al. (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43: 879–882.
17. D'AndreaAD (2010) Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 362: 1909–1919.
18. Auerbach AD, Joenje H, Buchwald M (2011) Fanconi anemia. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarkis SE, et al.. Scriver's online metabolic and molecular bases of inherited disease. New York: McGraw Hill. Chapter 31.
19. German J, Ellis NA (2011) Bloom syndrome. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarkis SE, et al.. Scriver's online metabolic and molecular bases of inherited disease. New York: McGraw Hill. Chapter 30.
20. HowlettNG, TaniguchiT, OlsonS, CoxB, WaisfiszQ, et al. (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297: 606–609.
21. LevitusM, WaisfiszQ, GodthelpBC, de VriesY, HussainS, et al. (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37: 934–935.
22. ReidS, SchindlerD, HanenbergH, BarkerK, HanksS, et al. (2007) Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 39: 162–164.
23. VazF, HanenbergH, SchusterB, BarkerK, WiekC, et al. (2010) Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 42: 406–409.
24. GruberSB, EllisNA, RennertG, OffitK, et al. (2002) BLM heterozygosity and the risk of colorectal cancer. Science 297: 2013.
25. ClearySP, ZhangW, Di NicolaN, AronsonM, AubeJ, et al. (2003) Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res 63: 1769–1771.
26. BerwickM, SatagopanJM, Ben-PoratL, CarlsonA, MahK, et al. (2007) Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 67: 9591–9596.
27. BarisHN, KedarI, HalpernGJ, ShohatT, MagalN, et al. (2007) Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. Isr Med Assoc J 9: 847–850.
28. SokolenkoAP, IyevlevaAG, PreobrazhenskayaEV, MitiushkinaNV, AbyshevaSN, et al. (2012) High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. Int J Cancer 130: 2867–2873.
29. WhitneyMA, SaitoH, JakobsPM, GibsonRA, MosesRE, et al. (1993) A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 4: 202–205.
30. EllisNA, CiocciS, ProytchevaM, LennonD, GrodenJ, et al. (1998) The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet 63: 1685–1693.
31. HoulstonRS, PetoJ (2004) The search for low-penetrance cancer susceptibility alleles. Oncogene 23: 6471–6476.
32. MacArthurDG, BalasubramanianS, FrankishA, HuangN, MorrisJ, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335: 823–828.
33. MeeteiAR, SechiS, WallischM, YangD, YoungMK, et al. (2003) A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol 23: 3417–3426.
34. DeansAJ, WestSC (2009) FANCM connects the genome instability disorders Bloom's syndrome and Fanconi anemia. Mol Cell 36: 943–953.
35. SuhasiniAN, RawtaniNA, WuY, SommersJA, SharmaS, et al. (2011) Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome. EMBO J 30: 692–705.
Štítky
Genetika Reprodukčná medicínaČlánok vyšiel v časopise
PLOS Genetics
2012 Číslo 9
- Je „freeze-all“ pro všechny? Odborníci na fertilitu diskutovali na virtuálním summitu
- Gynekologové a odborníci na reprodukční medicínu se sejdou na prvním virtuálním summitu
Najčítanejšie v tomto čísle
- Enrichment of HP1a on Drosophila Chromosome 4 Genes Creates an Alternate Chromatin Structure Critical for Regulation in this Heterochromatic Domain
- Normal DNA Methylation Dynamics in DICER1-Deficient Mouse Embryonic Stem Cells
- The NDR Kinase Scaffold HYM1/MO25 Is Essential for MAK2 MAP Kinase Signaling in
- Functional Variants in and Involved in Activation of the NF-κB Pathway Are Associated with Rheumatoid Arthritis in Japanese