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Page 1
ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
Skowronska A, Austen B, Powell JE, Weston V, Oscier DG, Dyer MJ, Matutes E, Pratt G, Fegan C, Moss P, Taylor MA, Stankovic T. Skowronska A, et al. Haematologica. 2012 Jan;97(1):142-6. doi: 10.3324/haematol.2011.048827. Epub 2011 Sep 20. Haematologica. 2012. PMID: 21933854 Free PMC article.
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
Austen B, Barone G, Reiman A, Byrd PJ, Baker C, Starczynski J, Nobbs MC, Murphy RP, Enright H, Chaila E, Quinn J, Stankovic T, Pratt G, Taylor AM. Austen B, et al. Br J Haematol. 2008 Sep;142(6):925-33. doi: 10.1111/j.1365-2141.2008.07281.x. Epub 2008 Jun 28. Br J Haematol. 2008. PMID: 18573109 Free article.
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Tavtigian SV, et al. Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781682 Free PMC article.
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
Navrkalova V, Sebejova L, Zemanova J, Kminkova J, Kubesova B, Malcikova J, Mraz M, Smardova J, Pavlova S, Doubek M, Brychtova Y, Potesil D, Nemethova V, Mayer J, Pospisilova S, Trbusek M. Navrkalova V, et al. Haematologica. 2013 Jul;98(7):1124-31. doi: 10.3324/haematol.2012.081620. Epub 2013 Apr 12. Haematologica. 2013. PMID: 23585524 Free PMC article.
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators; Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G. Li J, et al. J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3. J Med Genet. 2016. PMID: 26534844 Free PMC article.
14 results