Journal article

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Carol Durno, Ayse Bahar Ercan, Vanessa Bianchi, Melissa Edwards, Melyssa Aronson, Melissa Galati, Eshetu G Atenafu, Gadi Abebe-Campino, Abeer Al-Battashi, Musa Alharbi, Vahid Fallah Azad, Hagit N Baris, Donald Basel, Raymond Bedgood, Anne Bendel, Shay Ben-Shachar, Deborah T Blumenthal, Maude Blundell, Miriam Bornhorst, Annika Bronsema Show all



PURPOSE: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. RESULTS: A t..

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Awarded by Stand Up to Cancer-Bristol Meyers Squibb Catalyst Research Grant

Awarded by Meagan's Walk

Funding Acknowledgements

Supported by a Stand Up to Cancer-Bristol Meyers Squibb Catalyst Research Grant (Grant Number: SU2C-AACR-CT07-17), which is administered by the American Association for Cancer Research, the scientific partner of SU2C. This work was also supported by the CanadaIsrael Health Research initiative, jointly funded by the Canadian Institutes of Health Research, the Israel Science Foundation, the International Development Research Centre, Canada, and the Azrieli Foundation. Additional financial support was provided by the Canadian Institutes of Health Research (CIHR), Meagan's Walk (MW-2014-10), LivWise, The Zane Cohen Center, and BRAINchild.