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27 December 2020: Articles

Unexpected Pathogenic p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma

Unusual clinical course

Arezou A. Ghazani A , Katelyn M. Breen B , Meaghan Dwan B , Justine A. Barletta B , Donna R. Vatnick B , Samantha M. Stokes B , Caroline Block B , Gerard M. Doherty B , Aviva Y. Cohn B , Ellen Marqusee B , Judy E. Garber D , Huma Q. Rana A*

DOI: 10.12659/AJCR.927415

Am J Case Rep 2020; 21:e927415

Figure 1. Pedigree of a family with RET p.V804M variant. The pedigree depicts individuals with cancer, cancer types, and RET p.V804M genotype when available. Positive and negative signs denote presence and absence of RET p.V804M, respectively. Circles and squares denote female and male family members, respectively. Arrow indicates proband. Numbers under circles or squares reflect current age or age at death if deceased, and numbers beside diagnosis reflect age at diagnosis. Filled quadrants denote affected conditions. BR – breast cancer; CO – colon cancer; MTC – medullary thyroid cancer; CLL – chronic lymphoid leukemia.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923