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DNA Mismatch Repair–Deficient Colorectal Carcinoma: Referral Rate for Genetic Cancer Risk Assessment in a Brazilian Cancer Center

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Abstract

Background

Approximately 15% of colorectal cancers (CRCs) are deficient in DNA mismatch repair proteins (dMMR), a characteristic that can occur in both sporadic and hereditary CRC. Due to sparse studies on dMMR CRC in the Brazilian population, we conducted a retrospective analysis of referral rates for Genetic Cancer Risk Assessment of this population and also describing clinical and molecular characterization of these tumors.

Methods

A retrospective, longitudinal, and unicenter study that included patients with dMMR CRC detected by IHC analysis from Pathology Database of our institution, from January 2015 to July 2017.

Results

MMR IHC testing was performed in 998 CRC tumors, and 78 tumors (7.8%) had dMMR. The mean age at diagnosis was 56.8 years (17–90), and most patients were female (41 out of 78, 52.6%). Of the 52 patients with right-sided CRC, 40 tumors (77%) had loss of the MLH1 and/or PMS2 expression, and 12 tumors (23%) had loss of MSH2 and/or MSH6 expression (p = 0.005). From 78 patients with dMMR CRC, only 43 patients (55.1%) were referred for genetic counseling (GC), and of them, only 33 patients (76.7%) really went to GC consultation. A total of 21 patients with dMMR CRC performed genetic testing.

Conclusion

Overall, genetic referral was less than expected in our population. Most of dMMR CRC patients did not receive GC, even in a cancer center, either due to the absence of referral or personal decision and few patients who pursued genetic counseling performed genetic testing.

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Authors and Affiliations

  1. Medical Oncology Department, A.C.Camargo Cancer Center, Sao Paulo, Brazil

    A. A. D. Gomes & M. N. Formiga

  2. Anatomic Pathology Department, Hospital Sirio Libanes, Sao Paulo, Brazil

    M. P. Macedo & M. D. Begnami

  3. Laboratory of Genomics and Molecular Biology, International Research Center/CIPE-A.C. Camargo Cancer Center, National Institute of Science and Technology in Oncogenomics (INCITO), São Paulo, Brazil

    G. T. Torrezan & D. M. Carraro

  4. Laboratorio LAPACI, Pocos de Caldas, Brazil

    G. R. Zenun

  5. Department of Colorectal Tumors, A.C.Camargo Cancer Center, Sao Paulo, Brazil

    S. Aguiar Jr

  6. Department of Oncogenetics, A.C.Camargo Cancer Center, 211, Professor Antonio Prudente Street – Liberdade, Sao Paulo, SP, 01509-900, Brazil

    M. N. Formiga

Authors
  1. A. A. D. Gomes
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  2. M. P. Macedo
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  4. G. R. Zenun
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Correspondence to M. N. Formiga.

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The project was approved by the Research Ethics Committee of the institution (number 2513/18).

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The authors declare that they have no conflict of interest.

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Gomes, A.A.D., Macedo, M.P., Torrezan, G.T. et al. DNA Mismatch Repair–Deficient Colorectal Carcinoma: Referral Rate for Genetic Cancer Risk Assessment in a Brazilian Cancer Center. J Gastrointest Canc 52, 997–1002 (2021). https://doi.org/10.1007/s12029-020-00467-z

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  • DOI: https://doi.org/10.1007/s12029-020-00467-z

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