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Papillary thyroid carcinoma as first and isolated neoplastic disease in a Lynch syndrome family member with a germline MLH1 mutation
- Source :
- Endocrine. 77:199-202
- Publication Year :
- 2022
- Publisher :
- Springer Science and Business Media LLC, 2022.
-
Abstract
- The Lynch syndrome (LS) is an autosomal dominant disorder characterized by a strongly increased risk of developing colorectal cancer and several extra-colonic malignancies, such as carcinomas of the endometrium, ovary, ureter, stomach, and small intestine [1]. Lynch syndrome is caused by germline mutations in mismatch repair genes (MMR)[2], mainly in MLH1 and MSH2, rarely in MSH6 and PMS2 [3,4]. Tumors usually develop at a relatively young age (G mutation (rs267607760)in MLH1gene.
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
Endocrinology, Diabetes and Metabolism
nutritional and metabolic diseases
DNA Methylation
Colorectal Neoplasms, Hereditary Nonpolyposis
digestive system diseases
Germ Cells
Endocrinology
Thyroid Cancer, Papillary
Mutation
Humans
Family
Genetic Predisposition to Disease
Thyroid Neoplasms
MutL Protein Homolog 1
Germ-Line Mutation
Subjects
Details
- ISSN :
- 15590100
- Volume :
- 77
- Database :
- OpenAIRE
- Journal :
- Endocrine
- Accession number :
- edsair.doi.dedup.....4f14b9d8490428b0838818d88c683f07