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A small share of children with acute lymphoblastic leukaemia were born with a gene change, in genes such as PAX5, ETV6 or IKZF1, that raised their risk. Finding it guides follow-up, testing of brothers and sisters, and the choice of a family stem cell donor.
AACR 2024 groups PAX5-associated predisposition to ALL and IKAROS (IKZF1)-associated predisposition with the conditions that do not carry a risk of MDS: routine blood tests are not needed without symptoms or abnormal examination, and an annual examination and education about symptoms are advised. ETV6-associated predisposition to myeloid or lymphoid neoplasms is grouped with those that do: blood count every 6 to 12 months and bone marrow every one to three years. For IKZF1, about 1% of children with B-cell ALL carry a germline pathogenic variant, cumulative malignancy incidence is about 10% by 20, and immune deficiency or dysregulation appears in about 65 to 70% of carriers. Li-Fraumeni syndrome, constitutional mismatch repair deficiency, Down syndrome, ataxia-telangiectasia, Nijmegen breakage syndrome and Bloom syndrome also carry a predisposition to lymphoid neoplasms.
In plain words · PAX5 (Paired box protein Pax-5) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.
Showing the target this term concerns: PAX5.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares ETV6, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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