BRCA Mutant Cancer Sufferers get Faster Diagnosis

November 12, 2012

BRCA Mutant Cancer Sufferers get Faster Diagnosis

A new report has recently been published on the online journal Cancer, which says that women with BRCA mutations are being diagnosed and treated earlier than previous generations. Women with BRCA mutations are acknowledged as having a higher risk of developing breast and ovarian cancer. According to Dr. Jennifer Litton, a breast medical oncologist at the University of Texas M.D. Anderson Cancer Center in Houston and author of the report says, ”We found, with some mathematical modeling about a 7.9-year difference between older and newer generations”.

The study found families in which there was a high incidence of BRCA related cancers over the generations. The study analyzed the two groups, the older generation which was diagnosed on average at age 48. The younger generation’s average age at the time of diagnosis was 42. The participants included 132 women who had been diagnosed with BRCA related cancer. Of this group, 106 women had a member of their family from an earlier generation who had previously been diagnosed with either breast or ovarian cancer.

When mathematical modeling was applied to the data from the study the result showed that the change in time between earlier diagnosis and diagnosis today was 7.9 years.

This time difference can be caused by a number of things according to Litton. There is a characteristic common in inherited diseases called ‘anticipation’. This condition happens because of DNA instability. The genes mutate and evolve earlier and in a far more aggressive manner with each successive generation. Anticipation is a genetic process in which genes actually change and the fundamental composition of the DNA alters. However Litton also acknowledges that better screening and the medical profession’s ability to find cancers earlier now has an input to the findings. She urges, “It’s important to continue to follow this research forward and validate it in bigger studies with more women involved”.

Dr. Jeffrey Weitzel, chief of the division of clinical cancer genetics at City of Hope Comprehensive Cancer Center in Duarte, California and another expert in the field agrees that earlier diagnosis and improved screening could be the reason for earlier diagnosis. But he is also aware that other factors may be at work too. He comments that an explanation for the BRCA mutations starting earlier could be similar to what is found in surveys that study trends in the general population. He adds, “But in high-risk women, it is magnified”.

He also explains that other influences may be environmental and reproductive factors. For example if a woman’s periods start later then she is at a lower risk than a woman whose menstrual periods started at an earlier age. In earlier generations the onset of menstrual periods normally started later, young women today are developing earlier.

The National Comprehensive Cancer Network recommends that screening of women in high risk groups begins at age 20 to 25. This report supports this stance. High risk groups are women whose families have a history of ovarian or breast cancers caused by BRCA mutations. The NCCN further recommends that screening should also take place between 5 and 10 years earlier than the age any family member has been diagnosed with BRCA related cancer.

Weitzel also cautions that in some cases the age of earlier generations at the time of diagnosis may have been incorrect because it was so long ago. But he does say that the results should encourage younger females who know that they have BRCA mutations to stick to the screening recommendations. He tells us that the guidelines are drawn up after taking any observations relating to earlier diagnosis into account. He concludes by noting that women today have access to the latest technology for screening and diagnosis.

The American Cancer Society states that the risk to a woman with BRCA mutation developing breast cancer can be up to 80%.

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