New gene tied to breast cancer

A mutation in a gene called Abraxas may predispose women to familial breast cancer, reports a new study in over one hundred Finnish families. The finding could potentially help doctors identify breast cancer risk for women with a family a history of breast cancer.

It’s believed that many hereditary breast cancers arise from less prevalent mutations in genes other than the well-known breast cancer susceptibility genes BRCA1 and BRCA2. The researchers took blood DNA samples from 125 breast cancer families originating from Northern Finland, and performed mutation screening and analysis of the Abraxas gene. The team found one mutation (called R361Q) in patients from three of the families, but not in more than 800 healthy women. The researchers show that the Abraxas R361Q mutation halts normal DNA damage responses in cells, blocking multiple proteins (including BRCA1) from effectively repairing damaged DNA.

The results indicate that that the mutated gene increases susceptibility to breast cancer, even in women who lack BRCA mutations. Because of the sensitivity to DNA damaging drugs, it is possible that women with the Abraxas mutation could have chemotherapy or radiation treatment specifically designed to target DNA repair deficits in Abraxas mutated cells. Moreover, the team observed that Abraxas mutation patients had other cancer types besides breast cancer, hinting that this mutated gene may predispose individuals to other cancers too. (Source: AAAS / EurekAlert)

For further information, please contact:

Arto Mannermaa, University of Eastern Finland, +358 40 3552752,

Veli-Matti Kosma, University of Eastern Finland, +358 500 675780,

Robert Winqvist, University of Oulu, +358-8-315-32-28,

Roger A. Greenberg, University of Pennsylvania, +1-215-746-2738,

Sci Transl Med 22 February 2012: Vol. 4, Issue 122, p. 122ra23
Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions. Szilvia Solyom, Bernadette Aressy, Katri Pylkäs, Jeffrey Patterson-Fortin, Jaana M. Hartikainen, Anne Kallioniemi, Saila Kauppila, Jenni Nikkilä, Veli-Matti Kosma, Arto Mannermaa, Roger A. Greenberg, and Robert Winqvist

Publishing year: 2012

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