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Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations

International Journal of Colorectal Disease volume 35, pages 351–353 (2020)Cite this article

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.

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Affiliations

  1. Department of Medical Oncology, Atatürk University Faculty of Medicine, 25100, Erzurum, Turkey

    Ali Yılmaz, Cem Mirili, Mehmet Bilici & Salim Başol Tekin

Authors
  1. Ali Yılmaz
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  2. Cem Mirili
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  3. Mehmet Bilici
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  4. Salim Başol Tekin
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Corresponding author

Correspondence to Ali Yılmaz.

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Yılmaz, A., Mirili, C., Bilici, M. et al. Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations. Int J Colorectal Dis 35, 351–353 (2020). https://doi.org/10.1007/s00384-019-03454-4

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  • DOI: https://doi.org/10.1007/s00384-019-03454-4

Keywords

  • Lynch syndrome
  • Colorectal cancer
  • PMS2
  • MSH6