DNA Mismatch Repair-Deficient Colorectal Carcinoma: Referral Rate for Genetic Cancer Risk Assessment in a Brazilian Cancer Center.
J Gastrointest Cancer
; 52(3): 997-1002, 2021 Sep.
Article
en En
| MEDLINE
| ID: mdl-32974876
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Derivación y Consulta
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Neoplasias Colorrectales
/
Reparación de la Incompatibilidad de ADN
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Asesoramiento Genético
Tipo de estudio:
Etiology_studies
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Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
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Adult
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Aged
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Aged80
/
Female
/
Humans
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Male
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Middle aged
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
J Gastrointest Cancer
Año:
2021
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
EEUU
/
ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
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US
/
USA