Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations.
Int J Colorectal Dis
; 35(2): 351-353, 2020 Feb.
Article
en En
| MEDLINE
| ID: mdl-31845022
ABSTRACT
BACKGROUND:
It is known that colorectal cancers (CRC) are frequently seen and constitute an important part of cancer-related deaths. Lynch syndrome (LS) is responsible for 3-5% of CRCs and develops due to mutations in DNA mismatch repair (MMR) genes. The most important MMR genes are MutL homolog1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6) and postmeiotic segregation increased 2 (PMS2). PMS2 and MSH6 mutations are very rarely seen in LS. CASE PRESENTATION We present a case that developed metastatic CRC, which we diagnosed as LS in association with a very rarely seen PMS2 and MSH6 germline mutation. Genetic counseling was recommended for the family, and screening programs were initiated for the family of the patient whose chemotherapy was continued after the diagnosis.CONCLUSION:
With the increase in daily use of next-generation sequencing (NGS) technology, it is thought that detection rate of both combined mutations and rare mutations will be increased.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Colorrectales Hereditarias sin Poliposis
/
Biomarcadores de Tumor
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Proteínas de Unión al ADN
/
Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto
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Mutación
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Int J Colorectal Dis
Asunto de la revista:
GASTROENTEROLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Turquía