Mortality associated with breast cancer has decreased by 25% over the past decade, Josep Baselga, head of the oncology unit of the Hospital Vall d'Hebrón in Barcelona, told the third European breast cancer conference last week.
In addition to the introduction of new drugs, a leading cause for such reduction was the progressive expansion of screening programmes, he told delegates at the conference in Barcelona, attended by more than 4000 specialists.
The conference also heard from the United Kingdom's Nottingham Research Unit about a new test to detect genetic mutations in hereditary breast cancer that seems to be easier and more cost effective than current ones based on blood analysis, while maintaining a high accuracy.
Dr José Antonio Cid, the principal investigator of the study, said that the only requirement was to find archival tissue samples from tumours affecting two relatives with a previous diagnosis of breast cancer, which he said was “something not too hard in British hospitals, where samples are well registered.”
The team recruited 67 family pairs (sister/sister; mother/ daughter; aunt/niece) at high risk of developing hereditary breast cancer from the strength of their family history. The team was not aware whether the women had mutations in the breast cancer genes BRCA1 and BRCA2.
The team analysed samples from two tumours per family to see whether there was a loss of genetic material close to the BRCA genes and whether the same loss was seen in the same place in both tumour samples. Most of the families had tumours in two relatives, and 14 had two tumours in one person—either in both breasts or breast plus ovary.
The researchers speculated that if the same loss of heterozygosity was detected in the same place in two different tumours in a family it could point to an underlying hereditary mutation in a breast cancer gene.
Dr Cid chose five spots or “microsatellite markers” close to the BRCA1 and BRCA2 genes to search for loss of heterozygosity. Then he matched the results from these tests with the results from standard genetic mutational analysis performed in blood samples from the same individuals. He found that in 50% (4/8) of cases where loss of heterozygosity predicted a mutation in BRCA1 or BRCA2, this was confirmed by mutation analysis.
Gene testing for high risk people currently requires a full mutational analysis that has been done first in the blood of a living, affected relative. Dr Cid said: “This is time consuming and expensive. Our alternative procedure also requires analysis in relatives, but this can be done in tissue stored from an operation sometimes carried out many years ago, and it is quick, easy, and affordable.”