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Earlier diagnosis of BRCA-cancers in younger generations

Analysis of a study published in a science journal   |   By Dr Sowmiya Moorthie   |   Published 23 September 2011
Study: Earlier age of onset of BRCA mutation-related cancers in subsequent generations
By: Litton J.K. et al. (11 authors total)
In: Cancer
Link: http://dx.doi.org/10.1002/cncr.26284
What this study set out to do:

Evaluate trends in age at cancer diagnoses in families with known harmful BRCA mutations to see if age of onset differed between generations.

How they went about it:

Two generations of women (Gen 1 and Gen 2) diagnosed with BRCA-positive cancer (either ovarian or breast) from the same family were evaluated. Their age of diagnosis, location of the mutation, and year of birth were recorded. Statistical analysis was carried out to compare the age of diagnosis.

Outcome:

Women are diagnosed eight years earlier in comparison with previous generations. The median age of cancer diagnosis was 42 years (range, 28-55 years) in Gen 1 and 48 years (range, 30-72 years) in Gen 2.

Conclusion:

In familial cases women with breast and ovarian cancer are diagnosed at an earlier age in later generations. This can have implications for the screening and counseling offered to these women.

Our view:

The authors acknowledge that further analysis is needed to validate the findings in this study, which consisted of a relatively small cohort. Further work is needed to see if factors such as improved screening and diagnosis have led to the younger age of diagnosis or if it is due to underlying biological mechanisms such as the accumulation of additional contributory risk mutations.  However, the findings have implications for screening programmes as well as counseling services.

Photo credit: PLoS

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