News

  • High Risk Individuals
    • Breast Cancer Survival Gene
      14/04/2010
      QIMR researchers, as part of an international collaboration, have found that a gene that is most commonly associated with skin pigmentation, hair and eye colour may influence a patient's chances of surviving cancer.
      ...more
    • Research News NBCF!
      12/04/2010
      Researchers at the Walter and Eliza Hall Institute have discovered that breast stem cells are exquisitely sensitive to the female hormones oestrogen and progesterone....
      ...more
    • Should Genes be patented
      5/02/2010
      The lawsuit challenges the government's granting of control of patents on BRCA1 and BRCA2 to Myriad Genetics (USA).
      ...more

Other gene faults found

The first breast cancer gene faults to be found were BRCA1 and BRCA2.  Women with these genes have up to an 80% chance of getting breast cancer in their lifetime.  We now know of other genes that significantly increase a woman's risk of breast cancer.  They are called TP53 and PTEN.  Genetic tests are available to women with a high risk of having changes in their BRCA1, BRCA2, TP53 or PTEN genes.

Researchers have found other common genes that can slightly increase a woman's risk of developing breast cancer.  These are called CASP8, FGFR2, TNRCP, MAP3K1 and LSP1.  No tests are available for these genes yet.

Rare genes that can also increase breast cancer risk slightly include CHEK2, ATM (ataxia telangiectasia mutated), BRIP1 and PALB2.  No tests are available for these genes yet.

 

PALB2 - another BRCA2?

Mutations (faults) in a gene called PALB2 increase the chances of developing breast cancer and can be inherited (passed from one generation to the next) just like mutations in BRCA1 and BRCA2. Interestingly, the proteins made by the genes PALB2, BRCA2 and BRCA1 all work together to maintain healthy cells.

Mutations in PALB2 are not common (about 2% of families with several cases of breast cancer might carry such a mutation) but it could be very important to identify women with a mutation in this gene because their chances of developing breast cancer could be very high, perhaps as high as the risks associated with having a mutation in the BRCA2 gene.

My laboratory is conducting a very large study involving more than 7,000 research participants (about 400 from kConFab) to try to find the best way to identify the women who carry a mutation in this gene and to find out more about their cancer risks. Our study has already identified several families who have a mutation in this gene and the data from these Australian families are consistent with carriers having a substantial breast cancer risk. We have also formed an international group of breast cancer researchers from Australia, America, Canada, The United Kingdom and Finland who are interested in finding out more about PALB2 and clarifying its role in breast and other cancers.

In the future, our work will help determine how a woman who carries a mutation in PALB2 might lower her risk of breast cancer, and should she become affected, how best to treat and manage her disease.

A/Prof Melissa Southey, Department of Pathology, The University of Melbourne