Wednesday, March 23, 2016

Genomic profiling of male breast cancer. summary

Burki, T.K. (2016). Genomic profiling of male breast cancer. The Lancet Oncology.

This brief article added to robust research in the area of the biological differences between male and female breast cancers.

Subjects were 59 male breast cancer patients, all were ER+ and 57 were HER2-. All exons (parts of the gene) of the 241 genes that commonly mutate in female breast cancer or are involved in DNA repair were the focus of the sequencing.

Analysis showed similar mutation patterns in males and females when compared with The Cancer Genome Atlas (TCGA) study.

Exceptions were:
  • 1.    In male breast cancer, genes involved in DNA repair were more frequently mutated than in female breast cancer.
  • 2.    Both male and female breast cancer had mutations in “genes such as PIK3CA, GATA3, MAP3K1, and TP53.” The main differences were that these mutations were more common in female breast cancer. (E.g., PIK3CA: 42% in female to 18% in ER+, HER2- male breast cancers. This is important because this mutation is the second most common mutation in female breast cancer and has been identified as a target for treatment.) Consequently, this finding emphasized the care needed in applying trials from female breast cancer to male breast cancer cautions Reis-Filho from Memorial Sloan Kettering.

Valerie Spiers from Leeds University sees the differences at the biological level of male and female breast cancer as support for treating male and female breast cancer as different diseases that may indicate the need for “male-focused breast cancer clinics.”

Finally, Reis-Filho notes that the number of sequenced genes was incomplete and consequently did not identify specific mutations found only in male and not female breast cancers.

My final comment: If this is not new, why has so little been done?

My final final comment: Did anyone else to a double take when reading the part about 241 genes. I checked. It’s not a typo.


  1. "241 mutated genes in female breast cancer" equals a more complex disease than many people realize with too few targeted drugs to treat it. If all those mutations fuel the cancer then the task of finding a cure seems impossible--at least for everyone.
    Thanks for this information on male breast cancer that I did not know.

  2. Holy cow. Now I have to go back and check the report they gave me for my genetic test. I think they only tested for 22 genes.

  3. There needs to be a lot more studies done on male breast cancer. It does sound like it becomes even more necessary as they target treatments. It has to be a bit of a different beast. It does seem that as they look at the genetic components of cancers and the targeted therapies that there will be less cancer focus on origination point and more on mutations (I could be wrong).