CASE HISTORY – October 2016

Hereditary cancer: a diagnosis confirmed twenty three years later

Authors: Piret Laidre, Jaan Soplepmann

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The article „Hereditary cancer: study of a pedigree“ was published in the journal Eesti Arst (Estonian Physician) in 1992. It describes a family with numerous colorectal and gynaecological malignancies. Alhough hereditary cancer was suspected, the article provided no concept of its essence. The article ended with an opinion that genetic testing would be necessary in the future.

In September 2015, a 48-year-old male patient presented for genetic consultation. He had undergone two resections for colon cancer at the age of 39 and 41 years. He had with him the article from 1992 which he showed to the geneticist explaining that the described family was his father`s family. The family met the Amsterdam criteria and the patient was tested for mutations of Lynch syndrome. In the MLH1 gene a heterozygous mutation c.1976G>C (p.Arg659Pro) was detected. A surveillance plan for Lynch syndrome was drawn up for the patient and his family members were invited for genetic testing.