BCR/ABL1 Testing: Introduction, indications, methods and interpretation

Fig. BCR-ABL1 fusion gene (Philadelphia chromosome)

BCR-ABL1 refers to a gene sequence found in an abnormal chromosome 22 of some people with certain forms of leukemia. Unlike most cancers, the cause of chronic myelogenous leukemia (CML) and some other leukemias can be traced to a single, specific genetic abnormality in one chromosome. The presence of the gene sequence known as BCR-ABL1 confirms the diagnosis of CML and a form of acute lymphoblastic lymphoma (ALL). Chronic myelogenous leukemia (CML) is part of a group of diseases called the myeloproliferative disorders, with an estimated 4600 newly diagnosed cases and 850 deaths in 2005. More than 95% of patients with CML have the distinctive Philadelphia chromosome (Ph1) that results from a reciprocal translocation between the long arms of

Cancer gene testing : BRCA1 and BRCA2 genes

Explaining Jolie's cancer:

News of Angelina Jolie's decision to undergo a prophylactic double mastectomy has instantly increased awareness of hereditary forms of cancer caused by mutations in the BRCA1 and BRCA2 genes.

Fig. Actress Angelina Jolie

While the BRCA1 and BRCA2 genes were discovered in the mid-1990s, genetic testing for the genes is increasingly available. Jolie's case highlights the importance of knowing one's family history and learning one's cancer risks in order to address them proactively.

Everyone has the BRCA1 and BRCA2 genes. We have two copies of each gene and get one each from our mother and father. They play a role in protecting the body against the development of cancer.

Individuals with mutations in either of these genes have increased cancer risks, most notably for breast and ovarian cancer. Individuals with mutations in BRCA1 and BRCA2 benefit from tailored management aimed at reducing cancer risks and detecting cancers early when they are most treatable.