"Long before it's in the papers"
January 28, 2015


New cancer mutation found

July 4, 2007
Special to World Science  

Bi­ol­o­gists re­port that they have found a muta­t­ion im­pli­cat­ed in at least four types of can­cer. The find­ing may add a key piece of in­forma­t­ion to medicine’s ar­se­nal of can­cer-fighting strate­gies, the re­search­ers say.

Like many oth­ers in­volved in can­cer, the gene, called AKT1, plays a role in cell growth and mul­ti­plica­t­ion. Can­cers of all types are char­ac­ter­ized by un­con­trolled cell growth and pro­lifera­t­ion, which pro­duces tu­mors. 

A molecular model of the AKT1 protein. (Courtesy CellSignaling@LANL)

Doz­ens of can­cer genes have been iden­ti­fied al­ready. But AKT1 could be a ma­jor ad­di­tion to this list, re­search­ers said. This is be­cause it’s a “cen­tral mem­ber of pos­sibly the most fre­quently ac­ti­vat­ed” chain of chem­i­cal events con­trol­ing cell mul­ti­plica­t­ion and sur­viv­al in can­cer, they wrote. 

Their pa­per de­scrib­ing the find­ings ap­pears in the July 4 on­line is­sue of the re­search jour­nal Na­ture.

AK­T1 func­tions to pro­duce a pro­tein mol­e­cule that can trav­el from with­in a cell to the in­ner side of the cell sur­face. There, it pas­ses along sig­nals from oth­er mol­e­cules that come from out­side the cell and send chem­i­cal mes­sages in­side. Such sig­nals in­clude com­mands re­lat­ing to growth and mul­ti­plica­t­ion.

AKT1 is a mem­ber of a family of pro­teins whose muta­t­ions have been sus­pected as cul­prits in can­cer, sci­en­t­ists said. But to date, no one had found a di­rect link by iso­lat­ing the muta­t­ions in tu­mors. The new work by Ker­ry L. Blan­chard of Eli Lilly Co. in In­di­an­ap­o­lis and col­leagues did so, the re­search team said. 

The muta­t­ion in AKT1 causes a change in its elec­tri­cal in­ter­ac­tions with oth­er mol­e­cules, such that it be­comes ab­nor­mally “ac­ti­vat­ed,” Blan­chard and col­leagues said. The mu­tant pro­teins are too of­ten at the cell sur­face sites where they’re ac­tive. This makes the sig­nal­ing spin out of con­trol and the cells be­come can­cerous.

The team iden­ti­fied a re­cur­rent muta­t­ion in the AKT1 gene in sam­ples from breast, col­orec­tal and ovar­i­an tu­mors. When trans­ferred in­to mice, the mu­tant form of AKT1 al­so in­duced leu­ke­mia, they found. It’s too early to say how the find­ings could trans­late in­to treat­ments, the re­search­ers said. But one pos­si­bil­ity is that they might help in designing personalized therapies, with tests of AKT1 re­veal­ing which treat­ment is best for a par­tic­u­lar pa­tient.

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Biologists report that they have found a mutation implicated in at least four types of cancer. The finding may add a key piece of information to medicine’s arsenal of cancer-fighting strategies, the researchers say. Like many other genes involved in cancer, the gene, called AKT1, plays a role in cell growth and multiplication. Cancers of all types are characterized by uncontrolled cell growth and proliferation, which produces tumors. Dozens of cancer genes have been identified already. But AKT1 could be a major addition to this list, researchers said. This is because it’s a “central member of possibly the most frequently activated” pathway of chemical signals involved in cell multiplication and survival in cancer, they wrote. Their paper describing the findings is to appear in an upcoming issue of the research journal Nature. AKT1 is a member of a family of proteins whose mutations have been suspected culprits in cancer. But to date, no one had found a direct connection in the form of actual mutations in the genes lurking in tumors. The new work by Kerry L. Blanchard of Eli Lilly Co. in Indianapolis and colleagues suggest such a direct role, the research team said. AKT1’s function is to produce a protein molecule that can travel from inside the cell to the inner side of the surface. There, it passes along signals from other molecules that come from outside the cell, lodge on its surface and pass chemical messages inside. Such messages include various commands relating to growth and multiplication. The mutation in AKT1 causes a change in its electrical interactions with other molecules, such that it becomes abnormally “activated,” Blanchard and colleagues said. The result is that the proteins go too often to the cell surface location where they’re active. This disrupts the signaling and makes cells cancerous. The team identified a recurrent mutation in the AKT1 gene in samples from breast, colorectal and ovarian tumors. When transferred into mice, the mutant form of AKT1 also induced leukaemia in the rodents, they found. It’s too early to say how the findings could translate into treatments, the researchers wrote, though one possibility is that tests of AKT1 activation might eventually reveal whether a patient will respond to a particular therapy.