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Scientists: cancer genome decoded

Nov. 6, 2008
Courtesy Nature
and World Science staff

The ge­nome of the can­cer­ous tis­sue of an in­di­vid­ual pa­tient has been de­coded for the first time, iden­ti­fy­ing mu­tat­ed genes with a likely a role in de­vel­op­ment of the can­cer, re­search­ers say.

Marrow cells used in the stu­dy. (Cour­tesy Dr. Tim Ley)


The da­ta came from a pa­tient with acute my­e­loid leu­kae­mia, a can­cer of white blood cells that af­fects around 13,000 adults yearly in the Un­ited States alone and kills about a third.

The gene se­quenc­ing tech­nique used in the study could be ap­plied to oth­er can­cers and aid the de­sign of tar­geted treat­ments, ac­cord­ing to the re­search­ers, who re­ported their find­ings in this week’s is­sue of the re­search jour­nal Na­ture.

Can­cer, really a group of dis­eases rath­er than one, oc­curs when ge­net­ic muta­t­ions cause cells to be­come ab­nor­mal and start re­pro­duc­ing out of con­trol. This leads to a some­times deadly growth of dis­eased tis­sue.

The re­search­ers, Elaine Mar­dis of the Wash­ing­ton Uni­ver­s­ity School of Med­i­cine in St. Lou­is, Mo. and col­leagues, se­quenced can­cer­ous and nor­mal tis­sue from the pa­tient and com­pared the two se­quences, or full sets of ge­net­ic code.

Ten mu­tat­ed genes were iden­ti­fied, ac­cord­ing to Mar­dis and col­leagues. Of these, they said, two were pre­vi­ously re­ported to be as­so­ci­at­ed with the dis­ease; the oth­ers pro­b­ably rep­re­sent new­found genes in­volved in the de­vel­op­ment of the ill­ness.

“Our study es­tab­lishes whole-ge­nome se­quenc­ing as an un­bi­ased meth­od for dis­cov­er­ing can­cer in­i­ti­at­ing muta­t­ions in pre­vi­ously un­iden­ti­fied genes,” the re­search­ers wrote. The tech­nique may be “the only ef­fec­tive means for dis­cov­er­ing all of the muta­t­ions” rel­e­vant to the dis­ease pro­cess, they added, not­ing that some of the muta­t­ions “may re­spond to tar­geted ther­a­pies.”


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The genome of the cancerous tissue of an individual patient has been sequenced for the first time, identifying mutated genes with a likely a role in development of the cancer, researchers say. The data came from a patient with acute myeloid leukaemia, a cancer of white blood cells that affects around 13,000 adults yearly in the United States alone and kills about a third. The gene sequencing technique used in the study could be applied to other cancers and aid the design of targeted treatments, according to the researchers, who reported their findings in this week’s issue of the research journal Nature. Cancer, really a group of diseases rather than one, occurs when genetic mutations cause cells to become abnormal and start reproducing out of control. This leads to a sometimes deadly growth of diseased tissue. The researchers, Elaine Mardis of the Washington University School of Medicine in St. Louis, Mo. and colleagues, sequenced cancerous and normal tissue from the patient and compared the two sequences, or full sets of genetic code. Ten mutated genes were identified, according to Mardis and colleagues. Of these, two were previously reported to be associated with acute myeloid leukaemia whereas the others probably represent new genes that are involved in the development of the disease. “Our study establishes whole-genome sequencing as an unbiased method for discovering cancer initiating mutations in previously unidentified genes,” the researchers wrote. The technique may be “the only effective means for discovering all of the mutations” relevant to the disease process, they added, noting that some of the mutations “may respond to targeted therapies.”