Assessment of family history and genetic testing among young persons with colorectal cancer

Erik Lundqvist1, Staffan Haapaniemi1, Ekaterina Kuchinskaya2

1Department of Surgery and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden. 2Department of clinical genetics, Institution for clinical and experimental medicine, Linköping University, Linköping, Sweden

Abstract

Objectives

The revised Bethesda guidelines recommend that patients less than 50 years old at colorectal cancer (CRC) diagnose should be tested for Lynch syndrome. A brief family history is essential on order to identify individuals in need for genetic investigation. The aim of this study was to assess the frequency and outcome of patient referral to the Regional Clinical Genetics (RCG) in a Swedish healthcare region.

Methods

Patients in the South East Healthcare region in Sweden (covering approximately 1,000,000 inhabitants or 10 % of the Swedish population), aged less than 50 years old and diagnosed with CRC between January 1, 2008 and December 31, 2017 were identified from the Swedish Colorectal Cancer Registry. Medical records were reviewed systematically and individuals referred to RCG were further assessed. The study was approved by the regional board of research ethics committee.

Results

Some 278 patients with CRC were identified, mean age 44 (19-49). Forty-one percent (n=115) were referred to RGC. In eleven percent (n=13) a mutation confirming diagnose of Lynch syndrome (n=11) or FAP (n=2) were found. Another fifty percent of the patients (n=58) underwent complete genetic investigation with a negative mutation or IHC analysis. Overall, in medical records, any information on family history was documented in 67% (n=188).

Conclusions

In spite of clinical guidelines, less than half of the study group was referred to genetic testing, implicating that a large number of persons are withheld from having their oncogenetic risk valued. Family history was documented more extensive but was often of poor quality.

Abstract references

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