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TRIPLE PRIMARY CANCER IDENTIFIED AS tp53 GENE MUTATION PROBABLE LI FRAUMENI SYNDROME - A CASE REPORT.

KRITHIKAA S

Abstract


Occurrence of multiple synchronous or  metachronous malignancies and its probable association with a genetic syndrome is well established. The occurrence of tp53 tumor suppressor gene associated malignancies are reported in less tha 1 of the general population(1).However ,the probability of occurrence increases significantly with multiple primaries or a family history of the syndrome associated cancers. We report a case of triple primary malignancy, initially diagnosed with  synchronous adenocarcinoma of Rectum and Infiltrating ductal carcinoma of Right Breast and later on subsequent followup developed a metachronous sarcoma of the left breast, who on genetic screening was identified with tp53 gene mutation and hence the probability of a Li Fraumeni Syndrome.

 


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References


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