A novel PALB2 truncating mutation in an Italian family with male breast cancer
Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, Molinari AM
Oncol Rep. 2015 Mar;33(3):1243-7. doi: 10.3892/or.2014.3685. Epub 2014 Dec 22.
Genes, or more accurately the proteins they encode, don’t act in isolation – they are part of complex machines and pathways, in which many proteins act together to accomplish a biological function. When these machines or pathways become dysfunctional the biology goes wrong, and one outcome can be cancer. Not surprisingly then mutations in the genes of components of machines or pathways that are closely connected can lead to the same kinds of cancer.
PALB2 – or “partner and localizer of BRCA2” to give it its full name – is associated closely with BRCA2, and so perhaps not surprisingly mutations in PALB2 are associated with breast cancer, as well as other kinds of cancer. Here Vietri and colleagues extend this finding to male breast cancer.
The authors identified 8 breast cancer patients from a group of hereditary breast cancer patients – 5 of them were men, and three of them were women who had a male breast cancer patient as a first-degree relative. One of these patients had a mutation in PALB2, and it was a novel kind of mutation, that probably leads to significant loss of activity of the protein based on the predicted impact on the structure of the protein.
This paper, though brief and with a single observation, suggests that PALB2 should be considered as a possible familial breast cancer gene also for men with the disease. It will remain to be seen from larger studies whether PALB2 mutations are preferentially associated with male breast cancer or not, but at least now the possibility has been raised and this question can be considered. Its not impossible that this gene has a specific biological relevance to male breast cancer,