PROADI-SUS – MAPA GENOMA BRASIL – SUBPROJECT ONCOLOGY: PORTRAIT OF COLORECTAL ADENOCARCINOMA IN DIFFERENT BRAZILIAN REGIONS

Introduction The Mapa Genoma Brasil (MGB) - Precision Health - Correlation between genomic, epidemiological, clinical, and familial profiles in cancer and cardiovascular diseases (PROADI-SUS) Project is an initiative by the Ministry of Health. The Oncology Subproject (MGBO) involved 9 centers specialized in cancer treatment, representing the 5 Brazilian regions: Fundação CECON (AM), Ophir Loyola (PA), Haroldo Juaçaba (CE), Liga Norte Riograndense (RN), Aristides Maltes (BA), Hospital Regional de Mato Grosso do Sul (MT); Hospital BP – A Beneficência Portuguesa de São Paulo (control center), Santa Casa de São Paulo (SP), and Erasto Gaertner (PR). A total of 275 patients over the age of 18 with diagnoses of breast cancer (140), prostate cancer (65), and colorectal cancer (CCR 70) were included, as well as 2 first- or second-degree relatives for each index case. Patients underwent germline whole-genome sequencing (WGS) (blood; 103-gene panel, 54 related to cancer) and somatic sequencing (tumor). Family members of patients with positive findings were sequenced using the Sanger technique.

Objective To describe the demographic, epidemiological, clinical, familial, pathological, and molecular characteristics of patients with colorectal cancer (CCR).

Method Analysis of the database from the PROADI-SUS MGBO prospective cohort using colorectal cancer (CCR) diagnosis as a filter.

Results Among the 70 patients with CCR (36 male and 34 female), the median age was 59 years (range 29-87) and the median BMI was 24 (range 13-37). Regarding lifestyle habits, 48.6% were smokers (11 pack-years), 68.6% reported alcohol consumption (10g/day), 100% consumed red meat (82.9% ≤ 100g/week), 82.9% consumed processed meats, 98.6% consumed fried foods, 80% used industrialized seasonings, and 95.7% consumed refined sugar. 25.7% reported regular physical activity. Comorbidities were reported by 65.7%: hypertension (38.6%), diabetes mellitus (17.1%), previous cancer history (4.3%). Regarding tumor location, 48.5% occurred in the distal colon, 25% in the proximal colon, and 22.5% in the rectum. Regarding pathological staging, 2.9% were Tis, 2.9% T1, 11.8% T2, 57.4% T3, 25% T4, 57.4% N+, and 13.2% M+ at diagnosis. Pathogenic Variants (PVs) were found in the genes MLH1, MSH6, PMS2, TP53, and MUTYH in 5 patients (7.1%), and Oncogenic Variants (OVs) were found in 36 tumors (51.4%): KRAS (29), NRAS (5), BRAF (2).

Conclusion We observed a population strongly exposed to risk factors, diagnosed at a locally advanced stage, with pathogenic and oncogenic variants that could contribute to genetic risk assessment and personalized treatment.

 

MissingLinkText

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
25 April 2025