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Novel germline RET mutation segregating with papillary thyroid carcinomas
J M Rey1, J P Brouillet, J Fonteneau-Allaire
1Laboratoire de Biologie Cellulaire et Hormonale, Hôpital A. de Villeneuve, CHU de Montpellier, Montpellier, France.
Abstract:
The RET proto-oncogene is responsible for inherited medullary thyroid cancer syndromes. RET is also found mutated in sporadic medullary thyroid cancer (MTC) and rearranged in sporadic papillary thyroid carcinomas. Here, we describe a previously unreported germline RET mutation at codon 603 in exon 10 associated with both MTC and nonmedullary thyroid cancer (NMTC) in a kindred. RET may thus not be excluded as a potential candidate for predisposition to some forms of NMTC.
Insights
A novel germline RET mutation in exon 10 is linked to both medullary thyroid cancer (MTC) and nonmedullary thyroid cancer (NMTC) in a family. This finding suggests RET
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- The RET proto-oncogene is implicated in inherited medullary thyroid cancer (MTC) syndromes.
- RET mutations are observed in sporadic MTC and rearrangements in sporadic papillary thyroid carcinomas.
Purpose of the Study:
- To report a novel germline RET mutation.
- To investigate the association of this mutation with both MTC and nonmedullary thyroid cancer (NMTC) within a single family.
Main Methods:
- Germline DNA sequencing to identify mutations in the RET proto-oncogene.
- Clinical evaluation of family members for thyroid cancer diagnoses.
Main Results:
- A previously unreported germline RET mutation was identified at codon 603 in exon 10.
- This mutation was found in individuals with both MTC and NMTC within the same kindred.
Conclusions:
- The identified germline RET mutation is associated with MTC and NMTC.
- RET may be a potential predisposing gene for certain types of NMTC.