Rare somatic mutation of pro-apoptotic BAX and BAK genes in common human cancers

Tumori

Volumn 98, Issue 6, 2012, Pages

  Kim, Min Sung ^a   Kim, Sung Soo ^a   Yoo, Nam Jin ^a   Lee, Sug Hyung ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

Apoptosis; BAK; BAX; Cancer; Mutation

Indexed keywords

PROTEIN BAK; PROTEIN BAX;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; APOPTOSIS; ARTICLE; BAK GENE; BAX GENE; BREAST CANCER; CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; EXPRESSED SEQUENCE TAG; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; HUMAN TISSUE; LUNG ADENOCARCINOMA; LUNG SQUAMOUS CELL CARCINOMA; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; NEOPLASM; POLYMERASE CHAIN REACTION; PROSTATE CARCINOMA; SINGLE STRAND CONFORMATION POLYMORPHISM; SOMATIC MUTATION; STOMACH CANCER; TANDEM REPEAT;

APOPTOSIS; BCL-2 HOMOLOGOUS ANTAGONIST-KILLER PROTEIN; BCL-2-ASSOCIATED X PROTEIN; BREAST NEOPLASMS; COLORECTAL NEOPLASMS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; FRAMESHIFT MUTATION; HUMANS; LEUKEMIA, MYELOID, ACUTE; LUNG NEOPLASMS; MALE; MICROSATELLITE INSTABILITY; NEOPLASMS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROSTATIC NEOPLASMS; SEQUENCE ANALYSIS, DNA; STOMACH NEOPLASMS;

EID: 84873632857     PISSN: 03008916     EISSN: 20382529     Source Type: Journal    
DOI: 10.1700/1217.13509     Document Type: Article

References (18)

1. Reed JC: Mechanisms of apoptosis. Am J Pathol, 39: 1415-1430, 2000.
2. Chipuk JE, Moldoveanu T, Llambi F, Parsons MJ, Green DR: The BCL-2 family reunion. Mol Cell, 37: 299-310, 2010.
3. Oltvai ZN, Milliman CL, Korsmeyer SJ: Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death. Cell, 74: 609-619, 1993.
4. Chittenden T, Harrington EA, O'Connor R, Flemington C, Lutz RJ, Evan GI, Guild BC: Induction of apoptosis by the Bcl-2 homologue Bak. Nature, 374: 733-736, 1995.
5. Lindsten T, Ross AJ, King A, Zong WX, Rathmell JC, Shiels HA, Ulrich E, Waymire KG, Mahar P, Frauwirth K, Chen Y, Wei M, Eng VM, Adelman DM, Simon MC, Ma A, Golden JA, Evan G, Korsmeyer SJ, MacGregor GR, Thompson CB: The combined functions of proapoptotic Bcl-2 family members bak and bax are essential for normal development of multiple tissues. Mol Cell, 6: 1389-1399, 2000.
6. Wei MC, Zong WX, Cheng EH, Lindsten T, Panoutsakopoulou V, Ross AJ, Roth KA, MacGregor GR, Thompson CB, Korsmeyer SJ: Proapoptotic BAX and BAK: a requisite gateway to mitochondrial dysfunction and death. Science, 292: 727-730, 2001.
7. Hanahan D, Weinberg RA: Hallmarks of cancer: the next generation. Cell, 144: 646-674, 2011.
8. Lee JW, Soung YH, Kim SY, Nam SW, Kim CJ, Cho YG, Lee JH, Kim HS, Park WS, Kim SH, Lee JY, Yoo NJ, Lee SH: Inactivating mutations of proapoptotic Bad gene in human colon cancers. Carcinogenesis, 25: 1371-1376, 2004.
9. Shin MS, Kim HS, Kang CS,Park WS, Kim SY, Lee SN, Lee JH, Park JY, Jang JJ, Kim CW, Kim SH, Lee JY, Yoo NJ, Lee SH: Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas. Blood, 99: 4094-4099, 2002.
10. Lee SH, Shin MS, Park WS, Kim SY, Kim HS, Han JY, Park GS, Dong SM, Pi JH, Kim CS, Kim SH, Lee JY, Yoo NJ: Alterations of Fas (Apo-1/CD95) gene in non-small cell lung cancer. Oncogene, 18: 3754-3760, 1999.
11. Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M: Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science, 275: 967-969, 1997.
12. Kondo S, Shinomura Y, Miyazaki Y, Kiyohara T, Tsutsui S, Kitamura S, Nagasawa Y, Nakahara M, Kanayama S, Matsuzawa Y: Mutations of the BAK gene in human gastric and colorectal cancers. Cancer Res, 60: 4328-4330, 2000.
13. Kim MS, Hur SY, Yoo NJ, Lee SH: Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. J Pathol, 221: 147-152, 2010.
14. Green DR, Kroemer G: Pharmacological manipulation of cell death: clinical applications in sight? J Clin Invest, 115: 2610-2617, 2005.
15. Oltersdorf T, Elmore SW, Shoemaker AR, Armstrong RC, Augeri DJ, Belli BA, Bruncko M, Deckwerth TL, Dinges J, Hajduk PJ, Joseph MK, Kitada S, Korsmeyer SJ, Kunzer AR, Letai A, Li C, Mitten MJ, Nettesheim DG, Ng S, Nimmer PM, O'Connor JM, Oleksijew A, Petros AM, Reed JC, Shen W, Tahir SK, Thompson CB, Tomaselli KJ, Wang B, Wendt MD, Zhang H, Fesik SW, Rosenberg SH: An inhibitor of Bcl-2 family proteins induces regression of solid tumours. Nature, 435: 677-681, 2005.
16. Chipuk JE, Fisher JC, Dillon CP, Kriwacki RW, Kuwana T, Green DR: Mechanism of apoptosis induction by inhibition of the anti-apoptotic BCL-2 proteins. Proc Natl Acad Sci U S A, 105: 20327-20332, 2008.
17. Eguchi H, Suga K, Saji H, Toi M, Nakachi K, Hayashi SI: Different expression patterns of Bcl-2 family genes in breast cancer by estrogen receptor status with special reference to pro-apoptotic Bak gene. Cell Death Differ, 7: 439-446, 2000.
18. Cartron PF, Oliver L, Martin S, Moreau C, LeCabellec MT, Jezequel P, Meflah K, Vallette FM: The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients. Hum Mol Genet, 11: 675-687, 2002.