Researchers in Ticino decode breast cancer gene function

It has been known to science for many years that the breast cancer gene known as the BRCA1 (BReast CAncer 1) protein is involved in the formation not only of breast cancer but also of ovarian and prostate tumors. However, we have not previously known precisely how the mechanisms take place in this genetic process. Researchers at the Institute for Research in Biomedicine (IRB) based in Bellinzona, which is part of the Università della Svizzera italiana (USI), have now decrypted these mechanisms and have published their findings in a study in the specialist journal Nature.

The team led by Ilaria Ceppi and Maria Rosaria Dello Stritto showed how the BRCA1 located on chromosome 17 can replace broken parts of the strand during the repair of DNA sequences and restore them. According to a press release, the researchers also gained new insights into how mutations of this protein have the opposite effect and lead to the growth of cancer cells. In these cases, the mutated form of BRCA1 would not repair the DNA of healthy cells, but rather that of cancer cells. The international team, which also involved the Institut de Biologie Intégrative de la Cellule Paris, the Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER) in Seville, Leiden University Medical Center, and the Peter-Debye Institute for Soft Matter Physics at the University of Leipzig in addition to the IRB, illustrated options to prevent or potentially bypass such mutations. The researchers demonstrated that there is an interplay between the BRCA1 protein and BARD1 and RAD51 (two genes also located on chromosome 17) that can be used to achieve tumor suppression.

The team’s findings have simultaneously been confirmed by similar studies in the USA and bring hope that understanding BRCA1’s function can contribute to the development of new therapeutic strategies and the appreciation of the possible resistance mechanisms of cancer cells. ce/ww