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1.
Genes (Basel) ; 14(4)2023 04 11.
Article in English | MEDLINE | ID: mdl-37107652

ABSTRACT

BACKGROUND: The incidence of sporadic colorectal cancer (CRC) among individuals <50 years (early-onset CRC) has been increasing in the United States (U.S.) and Puerto Rico. CRC is currently the leading cause of cancer death among Hispanic men and women living in Puerto Rico (PRH). The objective of this study was to characterize the molecular markers and clinicopathologic features of colorectal tumors from PRH to better understand the molecular pathways leading to CRC in this Hispanic subpopulation. METHODS: Microsatellite instability (MSI), CpG island methylator phenotype (CIMP), and KRAS and BRAF mutation status were analyzed. Sociodemographic and clinicopathological characteristics were evaluated using Chi-squared and Fisher's exact tests. RESULTS: Of the 718 tumors analyzed, 34.2% (n = 245) were early-onset CRC, and 51.7% were males. Among the tumors with molecular data available (n = 192), 3.2% had MSI, 9.7% had BRAF, and 31.9% had KRAS mutations. The most common KRAS mutations observed were G12D (26.6%) and G13D (20.0%); G12C was present in 4.4% of tumors. A higher percentage of Amerindian admixture was significantly associated with early-onset CRC. CONCLUSIONS: The differences observed in the prevalence of the molecular markers among PRH tumors compared to other racial/ethnic groups suggest a distinct molecular carcinogenic pathway among Hispanics. Additional studies are warranted.


Subject(s)
Colorectal Neoplasms , Proto-Oncogene Proteins B-raf , Male , Female , Humans , Proto-Oncogene Proteins B-raf/genetics , Proto-Oncogene Proteins B-raf/metabolism , DNA Methylation , Puerto Rico/epidemiology , Proto-Oncogene Proteins p21(ras)/genetics , Colorectal Neoplasms/epidemiology , Colorectal Neoplasms/genetics , Colorectal Neoplasms/metabolism , Microsatellite Instability , Biomarkers/metabolism , Hispanic or Latino/genetics
2.
J Racial Ethn Health Disparities ; 8(5): 1185-1191, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33006754

ABSTRACT

OBJECTIVE: Colorectal cancer is the leading cause of cancer death in Puerto Rico and third among Hispanics in the USA. Up to 2-4% of colorectal cancer cases are a result of Lynch syndrome (LS), a hereditary cancer syndrome caused by a germline mutation in at least one of the DNA mismatch repair genes. The objective of this study was to determine the prevalence of LS in colorectal tumors during the first 15-months after the implementation of universal tumor-based screening for LS in Puerto Rico. METHODS: A total of 317 colorectal tumors were evaluated in a large private pathology laboratory from September 2014 to December 2015. Clinical characteristics were obtained from the pathology reports. Unadjusted and adjusted logistic regression models were used to estimate the magnitude of association (odds ratio [OR] with 95% confidence intervals [CI]) between absent MMR protein expression and patient characteristics. RESULTS: Most cases (93.4%) were analyzed by immunohistochemistry; 11.8% (35 of 296) had deficient mismatch repair protein expression. While 29 of the 317 cases were subjected to PCR-based microsatellite instability analysis of which 10.3% (3 of 317) had microsatellite instability. In total, 11.0% of the tumors were reported MMR deficient. These tumors were more likely from females and more likely localized in the proximal colon compared to those with proficient MMR expression. CONCLUSIONS: Our data is consistent with the results from other studies including US Hispanics, where approximately 10% of Hispanic individuals with colorectal cancer have microsatellite instability. Our results support universal tumor-based screening for LS among Hispanics in accordance with National Comprehensive Cancer Network guidelines.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/ethnology , Early Detection of Cancer , Hispanic or Latino/genetics , Universal Health Care , Aged , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Cross-Sectional Studies , DNA Mismatch Repair , Female , Hispanic or Latino/statistics & numerical data , Humans , Immunohistochemistry , Male , Microsatellite Instability , Middle Aged , Puerto Rico
3.
Hum Genomics ; 13(1): 12, 2019 02 20.
Article in English | MEDLINE | ID: mdl-30786938

ABSTRACT

BACKGROUND: Colorectal cancer (CRC) is the first cause of cancer deaths among Puerto Ricans. The incidence and mortality of CRC in Puerto Rico continue to be on the rise. The burden of CRC in Puerto Rico is higher than among US Hispanics and is second only to African Americans, thus supporting the importance of studying this CRC health disparity. The genetic background of the Puerto Rican population is a mix of European, African, and Amerindian races, which may account, in part, for the differences observed in the CRC mortality rates among Puerto Ricans. The objective of the study was to assess the role of genetic ancestry in CRC risk and its association with clinicopathological features of CRC tumors in Puerto Ricans. RESULTS: We used a validated panel of 105 ancestry informative markers (AIMs) to estimate genetic ancestry in 406 Puerto Rican CRC cases and 425 Puerto Rican controls. We examined the association of genetic ancestry with CRC risk and tumor clinicopathological characteristics. CONCLUSIONS: The mean ancestry proportions in the study population were 61% European, 21% African, and 18% Amerindian. No association was observed between genetic ancestry and risk of CRC. However, African ancestry was associated with an increased risk of developing rectal tumors (OR = 1.55, 95% CI 1.04-2.31). Additional studies are needed to fully elucidate the role of African ancestry in CRC carcinogenesis.


Subject(s)
Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , Black or African American/genetics , Aged , Case-Control Studies , Female , Genetic Predisposition to Disease , Hispanic or Latino/genetics , Humans , Indians, Central American/genetics , Male , Middle Aged , Puerto Rico , White People/genetics
4.
Biotechnol Lett ; 40(1): 63-73, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28940098

ABSTRACT

OBJECTIVES: To develop a bioelectrochemical system (BES) to couple the biooxidation of chalcopyrite (CuFeS2), bioelectrogenesis, and the cathodic Cu2+ reduction, bioanodes of acidophilic (pH < 2) and aerobic chemolithoautotrophic bacteria Acidithiobacillus thiooxidans (sulfur oxidizing) and Leptospirillum sp. (Fe2+ oxidizing) were used. RESULTS: CuFeS2 biooxidation increases the charge transfer from the media due to the bioleaching of Cu and Fe. The biofilm on a graphite bar endows a more electropositive (anodic) character to the bioelectrode. By adding the bioleachate generated by both bacteria into the anodic chamber, the acidic bioleachate provides the faradaic intensity. The maximum current density was 0.86 ± 19 mA cm-2 due to the low potential of the BES of 0.18 ± 0.02 V. Such low potential was sufficient for the cathodic deposit of Cu2+. CONCLUSIONS: This work demonstrates a proof of concept for energy savings for mining industries: bioanodes of A. thiooxidans and Leptospirillum sp. are electroactive during the biooxidation of CuFeS2.


Subject(s)
Acidithiobacillus thiooxidans/metabolism , Bioelectric Energy Sources , Copper/metabolism , Acidithiobacillus thiooxidans/growth & development , Electrodes/microbiology , Oxidation-Reduction
5.
P R Health Sci J ; 21(4): 299-303, 2002 Dec.
Article in English | MEDLINE | ID: mdl-12572236

ABSTRACT

OBJECTIVE: The purpose of this study is to determine the prevalence rate of estrogen and progesterone receptors and HER 2/neu in the breast cancer biopsies analyzed in the Laboratory of Immunohistochemistry of the University of Puerto Rico School of Medicine in the year 2000. This data may serve as a reference point for future studies of the epidemiological aspects of breast cancer among women living in Puerto Rico. BACKGROUND: Determination of estrogen receptor (ER) and progesterone receptor (PR) on biopsy specimens of breast carcinoma prior to treatment is standard practice in the management of breast carcinoma. ER and PR are used to identify patients who are likely to respond to endocrine therapy. The prevalence of ER, PR and Her2/neu among USA women is 77%, 55% and 10-34%, respectively. One of the major clinical roles for testing HER 2/neu expression is to determine eligibility for treatment with Trastuzumab. METHODS: Retrospective analysis of 309 breast cancer biopsies was done. Paraffin embedded blocks of breast cancer tissue biopsies were received from different hospitals and Pathology Laboratories located throughout the island specifically for routine analysis of steroid receptor (ER/PR) and/or HER 2/neu expression. Immunostaining was performed in a Ventana Medical Systems automated instrument. RESULTS: Positive nuclear staining for ER and PR were seen in 65.9% (203/308) and 51.8% (159/307), respectively. In the HER2/neu test, 27.8% (46/165) gave a strong and complete membranous staining (score 3+). CONCLUSIONS: There is a lower prevalence of estrogen receptor in the breast cancer biopsies of women living in Puerto Rico than their USA counterparts, but similar prevalence of progesterone receptor status and HER 2/neu protein over expression.


Subject(s)
Breast Neoplasms/pathology , Oncogene Proteins v-erbB/analysis , Receptors, Steroid/analysis , Adult , Aged , Aged, 80 and over , Biopsy , Breast Neoplasms/chemistry , Breast Neoplasms/genetics , Female , Genes, erbB-2 , Humans , Middle Aged , Oncogene Proteins v-erbB/genetics , Puerto Rico , Receptors, Progesterone/analysis , Retrospective Studies
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