Medullary carcinoma of thyroid is associated with which of the following gene defect?
Point mutation in RET proto-oncogene play an impoant role in the development of both familial & sporadic medullary carcinomas. Medullary carcinoma is a neuroendocrine neoplasm of thyroid derived from the parafollicular cells or C-cells of thyroid. It secretes calcitonin. Tumor arise sporadically in 80% cases, remainder is associated with MEN Type IIA Or IIB syndrome. Most common presentation is mass in the neck. Ref: Genetics in Clinical Practice: New Directions for Nursing and Health Care By Dale Halsey Lea, Page 158 ; Robbins Pathologic Basis of Disease 6th Edition, Page 289, 292, 1145-6
Ret Proto Oncogene
FAP gene
Rb gene
BRCA 1 gene