Association of the germline TP53 R337H mutation with breast cancer in southern Brazil

2008

TP53 R337H Mutation and Breast Cancer in Southern Brazil

Sample size: 123 publication Evidence: moderate

Author Information

Author(s): Juliana G Assumpção, Ana Luíza Seidinger, Maria José Mastellaro, Raul C Ribeiro, Gerard P Zambetti, Ramapriya Ganti, Kumar Srivastava, Sheila Shurtleff, Deqing Pei, Luiz Carlos Zeferino, Rozany M Dufloth, Silvia Regina Brandalise, José Andres Yunes

Primary Institution: Centro Infantil Boldrini, Campinas, Brazil

Hypothesis

Does the germline TP53 R337H mutation contribute to breast cancer risk in southern Brazil?

Conclusion

The R337H mutation significantly increases the risk of breast cancer in carriers, likely influenced by additional genetic factors.

Supporting Evidence

The R337H mutation was found in three patients with breast cancer but not in any controls.
The mutation rate in breast cancer patients was 2.4%, significantly higher than the general population.
All three carriers of the mutation developed breast cancer at an early age.

Takeaway

Some people in southern Brazil have a gene change that can make them more likely to get breast cancer, especially if they have other family members with cancer.

Methodology

A case-control study comparing 123 women with breast cancer to 223 age- and sex-matched controls, using DNA sequencing to identify the R337H mutation.