This paper concerns five patients who carry a novel genetic variant in a gene (TP53) that cause a high risk of childhood cancer. Three of the children developed cancer before age 18, two children have had two successive cancers. All five children were conceived by the help of a sperm donor. The aim with this publication is to raise awareness of this specific variant in TP53, and to make sure that the variant is considered disease causing when identified. Patients who carry the variant should be offered surveillance according to guidelines for TP53. (By Dr. Anna Byrjalsen, https://jmg.bmj.com/content/61/11/1023 )
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
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