Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations.
Antineoplastic Combined Chemotherapy Protocols
/ therapeutic use
Biomarkers, Tumor
/ genetics
Colorectal Neoplasms, Hereditary Nonpolyposis
/ diagnosis
DNA-Binding Proteins
/ genetics
Fluorouracil
/ therapeutic use
Genetic Predisposition to Disease
Humans
Leucovorin
/ therapeutic use
Male
Middle Aged
Mismatch Repair Endonuclease PMS2
/ genetics
Mutation
Organoplatinum Compounds
/ therapeutic use
Phenotype
Colorectal cancer
Lynch syndrome
MSH6
PMS2
Journal
International journal of colorectal disease
ISSN: 1432-1262
Titre abrégé: Int J Colorectal Dis
Pays: Germany
ID NLM: 8607899
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
accepted:
07
11
2019
pubmed:
18
12
2019
medline:
18
11
2020
entrez:
18
12
2019
Statut:
ppublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 31845022
doi: 10.1007/s00384-019-03454-4
pii: 10.1007/s00384-019-03454-4
doi:
Substances chimiques
Biomarkers, Tumor
0
DNA-Binding Proteins
0
G-T mismatch-binding protein
0
Organoplatinum Compounds
0
PMS2 protein, human
EC 3.6.1.-
Mismatch Repair Endonuclease PMS2
EC 3.6.1.3
Leucovorin
Q573I9DVLP
Fluorouracil
U3P01618RT
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
351-353Références
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