Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations

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 (ML...

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Bibliographic Details
Published in:International journal of colorectal disease 2020-02, Vol.35 (2), p.351-353
Main Authors: Yılmaz, Ali, Mirili, Cem, Bilici, Mehmet, Tekin, Salim Başol
Format: Article
Language:English
Subjects:
Cancer
Case Report
Chemotherapy
Colorectal cancer
Ethylenediaminetetraacetic acid
Gastroenterology
Gene mutations
Genetic aspects
Hepatology
Internal Medicine
Medical genetics
Medicine
Medicine & Public Health
Metastasis
Proctology
Surgery
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Summary: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.
ISSN:0179-1958
1432-1262
DOI:10.1007/s00384-019-03454-4