"A cousin alerted them after she developed a rapidly progressing breast tumor. In September, she was cancer-free, and in January, she found a lump that had grown very quickly. Her mother had died of breast cancer. They told her, 'Something's wrong here,' and they did a genetic test. That's how she learned she carried a mutated version of the BRCA1 gene, known as the Angelina Jolie gene."
"Carrying this mutation means having a greater than 60% chance of developing breast cancer, between 39% and 58% of developing ovarian cancer, and it is now known to be also linked to prostate, pancreatic, and melanoma cancers."
"Three weeks later the results came in: all three had inherited a pathogenic mutation in the BRCA1 gene, discovered by the scientist Mary-Claire King. Maria is an optimistic woman and repeated the tests twice, thinking the results might be different, but they weren't."
Three sisters—Maria, Adriana, and Paula Lopez Fontanals—learned they carry a pathogenic BRCA1 gene mutation after their cousin developed rapidly progressing breast cancer. The cousin's diagnosis prompted family genetic testing, which revealed all three sisters inherited the mutation. Carrying this mutation increases the risk of breast cancer by over 60%, ovarian cancer by 39-58%, and is linked to prostate, pancreatic, and melanoma cancers. The sisters responded differently to this life-altering discovery: Maria initially remained optimistic but grew more anxious with age, while Paula accepted the reality from the beginning. Their cousin underwent a difficult treatment process, ultimately losing a breast.
Read at english.elpais.com
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