Published on
Updated
Reading 2 min.
Each year, male breast cancer accounts for less than 1% of all breast cancer cases. Faced with its greater progression than in women, researchers have analyzed these tumors to improve its management, which is currently difficult.
Unlike female tumors, the survival rate for male breast cancer has not improved significantly over the past 30 years. To improve its management, researchers at Weill Cornell Medicine wanted to know if these tumors present distinct alterations in the tumor genome and therefore other potential therapeutic targets.
Breast cancer in men: a worrying progression
Although most research has focused on women with breast cancer, the incidence in men has increased at a much faster rate than in women over the past 40 years. Additionally, most men are unaware of their risk, which is why they tend to be diagnosed at later stages and have poorer treatment outcomes.
To consider this cancer as a distinct disease and look for genetic alterations unique to these tumors, researchers at Weill Cornell Medicine conducted the first whole-genome sequencing analysis of male breast cancer, which examined the entire DNA from tumor samples from 10 patients.
The first genetic analysis of male tumors
Published on February 16 in Modern Pathology, the study uncovered genetic mutations and molecular profiles that could impact diagnosis and treatment. Researchers discovered mutations in several genes known to promote cancer growth. They also identified structural variants (places in the genome where DNA has broken and rearranged) that impact five other cancer-associated genes.
Two men had variations in the BRCA2 gene that impair DNA repair, a common cause of breast cancer in women.
With an expanded study group of 18 additional tumor samples, approximately 21% of tumors had 10 to 20 excess copies of the FGFR1 gene, which is linked to treatment-resistant tumors in some women with breast cancer and is already a drug target.
Cancer therapies available for 80% of tumors
The good news is that cancer therapies are available to target the genetic variations identified in 8 of the 10 men, opening new avenues for treatment. For example, drugs such as immunotherapy and PARP inhibitors might be effective in men with BRCA2 gene variations and a high number of tumor mutations.
Cancer-triggering rearrangements in the NTRK1 gene may respond to drugs called kinase inhibitors. Additionally, the genetic mutations identified here could lead to the discovery of new targeted therapies.
Larger studies will need to confirm the results of this research, but these new results now suggest that it will be necessary to adapt treatments to this understudied population of male patients, according to the authors.