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.