Marcia Cruz-Correa

Johns Hopkins University, Baltimore, Maryland, United States

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Publications (84)572.73 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Lynch syndrome (LS) is an inherited form of colorectal cancer (CRC) caused by germline mutations in the mismatch repair (MMR) genes. It accounts for approximately 5 % of all CRCs. The prevalence of LS among US Hispanics is unknown. The objective of this study was to describe the germline mutations of LS in Caribbean Hispanics from Puerto Rico and Dominican Republic. A total of 89 subjects were recruited through the Puerto Rico Familial Colorectal Cancer Registry and were classified according to Amsterdam and Bethesda clinical guidelines. For those tumors with lack of expression of MMR protein, gene sequencing was ordered. A total of 35 individuals with deficient MMR system were identified: 22 had MMR mutations and 13 had tumors with absent MMR protein expression. Our results show that the mutation spectrum of Caribbean Hispanic LS patients was composed mostly of MSH2 (66.7 %) mutations, followed by MLH1 (25.0 %). One mutation was identified in MSH6 (8.3 %). A previously unidentified mutation in MLH1 gene c.2044_2045del was found in one Caribbean Hispanic family. MMR mutation-positive individuals were found to be more likely to have a prominent family history of CRC and tumors located at the proximal colon. Compared to MSH2 mutation carriers, MLH1 mutation-positive individuals were more likely to have a strong family history of CRC and LS associated cancers. Furthermore, insurance coverage for genetic testing was found to be limited in the study population with 65.1 % of the individuals recruited were denied coverage. This report presents the first description of the mutation spectrum and clinicopathologic characteristics of LS Caribbean Hispanics patients.
    Familial Cancer 03/2015; DOI:10.1007/s10689-015-9795-y · 1.94 Impact Factor
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    ABSTRACT: Patients with serrated polyposis develop multiple colorectal hyperplastic and/or serrated sessile adenomas/polyps. We investigated the risk of colorectal and other cancers by analyzing data from 64 patients with serrated polyposis (mean age at diagnosis, 54 y; 41% male; 92% white) listed in the Johns Hopkins Polyposis Registry. Medical, endoscopic, and histopathology reports were evaluated. Six patients (9.4%) had a history of colorectal cancer, diagnosed at a mean age of 56 y; 6 additional patients (9.4%) had at least 1 advanced colorectal adenoma. Extra-colonic cancers were found in 16% of the study population. The standard incidence ratio for colorectal cancer in patients with serrated polyposis was 18.72 (95% confidence interval, 6.87 - 40.74) and for extra-colonic cancer was 31.20 (95% confidence interval, 14.96 - 57.37), compared to the SEER population. Patients with serrated polyposis therefore have a high risk for colorectal cancer and require vigilant colorectal surveillance, starting at the time of diagnosis of serrated polyposis. The risk of extra-colonic cancer also appears to be increased, but this requires further evaluation. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.
    Clinical Gastroenterology and Hepatology 02/2015; DOI:10.1016/j.cgh.2015.02.003 · 6.53 Impact Factor
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    ABSTRACT: There is inconclusive evidence regarding the potential link between diabetes mellitus (DM) and colorectal cancer (CRC). Associations between type 2 DM and colorectal neoplasia (CRN; colorectal cancer and/or adenomas) have not been well studied in Hispanics, an ethnic minority at high risk for type 2 DM. This study aims to assess the association between type 2 DM and CRN in Hispanics. Hispanics with incident CRN and colonoscopy-negative controls from 2005 to 2009 were evaluated. Diagnosis of type 2 DM was established by previous medical diagnosis and/or use of DM treatments. Unconditional logistic regression was performed to estimate odds ratios for the association between type 2 DM and CRN. A total of 451 participants (mean age 61.1±11.9years, 59.6 % men) were evaluated (218 with incident CRC, 77 with colorectal adenomas, and 156 colonoscopy-negative controls). The prevalence of type 2 DM in this study was 25.1%. After adjusting for potential confounding variables, women with type 2 DM were 2.74 (95% CI: 0.94-7.99) times more likely to have CRN and 4.83 times more likely to present with proximal colonic CRN (95% CI: 1.25-18.58) than women without type 2 DM. No statistically significant associations were found between type 2 DM and CRN among men. An increased odds for CRN and proximal location of CRN was observed among Hispanic women with type 2 DM. Since DM is a highly prevalent disease in this population, adherence to routine CRC screening is of outmost importance. Copyright © 2015 Elsevier Inc. All rights reserved.
    Journal of Diabetes and its Complications 02/2015; DOI:10.1016/j.jdiacomp.2015.01.010 · 1.93 Impact Factor
  • Puerto Rico health sciences journal 06/2014; 33(2):91-3. · 0.67 Impact Factor
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    ABSTRACT: Colorectal cancer represents a major health problem and an important economic burden in Puerto Rico. In the 1990's, the Commonwealth of Puerto Rico implemented a health care reform through the privatization of the public health system. The goal was to ensure access to health services, eliminate disparities for medically indigent citizens and provide special coverage for high-risk conditions such as cancer. This study estimates the 5-year relative survival rate of colorectal cancer and the relative excess risk of death in Puerto Rico for 2004-2005, by type of health insurance coverage; Government Health Plan vs. Non-Government Health Plan. Colorectal cancer in advanced stages was more common in Government Health Plan patients compared with Non-Government Health Plan patients (44.29% vs. 40.24 had regional extent and 13.58% versus 10.42% had distant involvement, respectively). Government Health Plan patients in the 50-64 (RR = 6.59; CI: 2.85-15.24) and ≥65 (RR = 2.4; CI: 1.72-4.04) age-groups had the greater excess risk of death compared with Non-Government Health Plan patients. Further studies evaluating the interplay of access to health services and the barriers affecting the Government Health Plan population are warranted.
    PLoS ONE 05/2014; 9(5):e96746. DOI:10.1371/journal.pone.0096746 · 3.53 Impact Factor
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    ABSTRACT: In Puerto Rico, colorectal cancer (CRC) represents the second leading cause of cancer in men and women. Familial CRC accounts for 10-15% of the total CRC cases, while Lynch syndrome accounts for approximately 2-4% of cases. Limited information is available about the prevalence, clinical manifestations, and genetic mutations of hereditary CRC in US Hispanic individuals. In this paper we report a novel mutation in the hMLH1 gene in a Puerto Rican Hispanic family with Lynch syndrome recruited through the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Our proband was identified by applying Amsterdam and Bethesda criteria for Lynch syndrome, analysis of protein expression by immunohistochemistry, and genetic sequencing of the mismatch repair genes. A novel mutation at c.2044_2045 in hMLH1 consisting of the deletion of two consecutive nucleotides (AT) at exon 18 was identified. This deletion causes a frameshift in the protein coding sequence at p.682 resulting in premature termination and a truncated MLH1 protein. To our knowledge, this mutation has not been previously reported in the literature. The detection of this novel mutation in MLH1 further emphasizes the need for genetic testing in at-risk patients for hereditary CRC from various ethnic and racial backgrounds.
    Gastroenterology Research and Practice 01/2014; 2014:527946. DOI:10.1155/2014/527946 · 1.50 Impact Factor
  • Marcia Cruz-Correa
    Gastroenterology 12/2013; 146(2). DOI:10.1053/j.gastro.2013.12.019 · 12.82 Impact Factor
  • Cancer Research 08/2013; 73(8 Supplement):5362-5362. DOI:10.1158/1538-7445.AM2013-5362 · 9.28 Impact Factor
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    ABSTRACT: Colorectal cancer (CRC) is the second most commonly diagnosed cancer in Puerto Rico (PR). Given the lack of information on cancer screening behavior, we identified factors associated with CRC screening among adults aged >or= 50 years in PR. Age-eligible adults who participated in the PR- Behavioral Risk Factor Surveillance System (BRFSS) in 2008 were included in the analysis (n=2,920). Weighted prevalence of fecal occult blood test (FOBT) within two years and of Sigmoidoscopy/ Colonoscopy examination within five years before the interview were estimated, and logistic regression models were used to assess factors associated with these CRC screening practices. Overall, 8.2% (95% CI 7.1%-9.3%) of the participants had had the FOBT within the past two years, 39.8% (95% CI 37.7%-41.9%) had sigmoidoscopy/ colonoscopy examination within 5 years, and 46.7% (95% CI= 44.5%-48.8%) had ever had any type of CRC screening. Factors positively associated to CRC screening in multivariable analyses included older age, higher education, and having had a routine check-up in the past year. Gender, body mass index, and other relevant covariates evaluated were not associated to screening behavior. Prevalence of CRC screening in PR during 2008 was below the goals established by Healthy People 2010 (50.0%) and 2020 (70.5%). We provide the first population-based estimates of CRC screening prevalence and correlates in a US predominantly Hispanic population. Low adherence to CRC screening may result in late stage at diagnosis and poorer disease outcomes. Public health efforts should focus on the promotion of CRC screening and early detection.
    Puerto Rico health sciences journal 06/2013; 32(2):68-75. · 0.67 Impact Factor
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    Marcia Cruz-Correa
    Digestive Diseases and Sciences 05/2013; 58(7). DOI:10.1007/s10620-013-2707-9 · 2.26 Impact Factor
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    ABSTRACT: Several genetically defined hereditary colorectal cancer (CRC) syndromes are associated with colonic polyposis including familial adenomatous polyposis (FAP) and MUTYH adenomatous polyposis (MAP). Limited data exists on the clinical characterization and genotypic spectrum of polyposis syndromes among Hispanics. To describe the phenotype and genotype of Puerto Rican Hispanic patients with FAP and MUTYH and compare with other ethnic and racial groups. Probands were identified from the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Recruited individuals completed risk factors, medical, and family history questionnaires and underwent genetic testing for genotype analysis. Frequency analysis, Chi square, Fisher's exact and Wilcoxon rank-sum tests were used for statistical analysis methods. A total of 31 FAP (from 19 families) and 13 MAP (from 13 families) Hispanic patients recruited from the PURIFICAR were evaluated. Among the FAP cases, mean age at diagnosis was 27.6 (range 9-71 years); 67.7 % cases had more than 100 polyps and 41.9 % had upper gastrointestinal polyps. Among the 19 FAP families, there were 77 affected FAP individuals and 26 colorectal cancer cases. Genetic mutations were available for 42.2 % of FAP families; all mutations identified were unique. Surgeries were reported in 31 cases; 14 (45.2 %) prophylactic surgeries and 6 (19.4 %) therapeutic surgeries for management of CRC. Among MAP cases, mean age at diagnosis was 53 (range 34-76 years). Genetic analysis revealed homozygous biallelic mutations (G382D) in 53.8 %, compound heterozygous mutations (G382/Y165C) in 23 %, and non-G382/Y165C monoallelic mutations in 23 %. Familial cancer registries should be promoted as vehicles for detection, education and follow up of families at-risk of acquiring familial cancers. PURIFICAR is the first and only familial cancer registry in Puerto Rico providing these services to families affected with familial cancer syndromes promoting education, testing and surveillance of at-risk family members, and focusing on cancer prevention efforts. The fact that only 40 % of FAP patients had access to genetic testing stresses the need to promote the establishment of policies supporting genetic testing coverage by medical insurance companies in order to provide patients with the highest standard of care to prevent cancer. Furthermore, our results suggest that Hispanics may have uncommon mutations in adenomatous polyposis related genes, which emphasize the need for full gene sequencing to establish genetic diagnosis.
    Familial Cancer 03/2013; DOI:10.1007/s10689-013-9617-z · 1.94 Impact Factor
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    ABSTRACT: Many studies have provided evidence for an association between obesity, physical inactivity, and western diet as risk factors for colorectal cancer (CRC). Few studies directly address the association between type 2 Diabetes Mellitus (DM) and the risk of colorectal lesions at specific anatomic locations. 2,663 subjects with a previous history of adenoma(s) and removal of all current adenomas at study entry were followed for a mean time of three years across three different chemoprevention clinical trials. The primary endpoint was colorectal adenoma recurrence and number of lesions during the treatment phase; the secondary endpoints were presence of advanced colorectal neoplasia (CRN) and location of CRN. Using log linear regression, the effect of DM status on the relative risk (RR) of CRN recurrence, advanced CRN, and location of CRN was assessed. DM status was not significantly associated with incidence of colorectal adenomas, incidence of advanced colorectal lesions, or left-sided colorectal neoplastic lesions. Subjects with DM had a marginally increased risk of right-sided (p= 0.06) colorectal adenomas and a significant increased risk of multiple right-sided adenomas (p=0.03) in the unadjusted model; this association was not significant after adjusting for age and other potential confounders (RR=1.22, 95% CI: 0.85-1.76). We did not observe a statistically significant increased risk in CRN recurrence for overall neoplasia, advanced neoplasia or location of neoplasia in individuals with DM compared to non-DM individuals. However, given the patterns observed in this investigation, future studies with longer follow-up time and longer DM exposure, incorporating objective measurements of type 2 DM might help elucidate the risk of CRN among individuals with DM.
    Journal of Cancer Therapy 11/2012; 3(6A):859-865. DOI:10.4236/jct.2012.326110
  • Cancer Research 06/2012; 72(8 Supplement):5023-5023. DOI:10.1158/1538-7445.AM2012-5023 · 9.28 Impact Factor
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    ABSTRACT: Colorectal cancer (CRC) has a high prevalence among the US Hispanic population. In Puerto Rico, CRC is the third leading cause of cancer death in men and the second in women. There are limited published data on the prevalence of colorectal neoplasia (CRN) among the US Hispanic population. We determined the prevalence of CRN (colorectal adenomas and cancer) among asymptomatic, Hispanic subjects who were screened in Puerto Rico and evaluated risk factors associated with CRN. We performed a retrospective review of the medical, endoscopic, and pathology records of individuals who underwent first-time screening colonoscopies at an ambulatory gastroenterology practice from January 1, 2008, to December 1, 2009. The prevalence of CRN (overall and advanced), documented by colonoscopy and pathology reports, was calculated for the complete cohort and by sex. Of the 745 Hispanic individuals who underwent screening colonoscopies during the study period, the prevalence for overall CRN was 25.1% and for advanced CRN (≥ 1 cm and/or with advanced histology) was 4.0%. The prevalence of CRN was higher for men than women (32.0% vs 20.6%; P = .001; odds ratio, 1.92; 95% confidence interval, 1.4-2.6). CRN was more frequently located in the proximal colon (67.7% proximal vs 32.3% distal). A family history of CRC was associated with advanced CRN (odds ratio, 2.73; 95% confidence interval, 1.10-6.79). CRN was more common among Hispanic men than women and increased with age. CRNs among Hispanic individuals were predominantly located in the proximal colon. These findings indicate that there are ethnic and sex disparities in patterns of CRN that might be related to genomic admixture and have important implications for screening algorithms for Hispanic individuals.
    Clinical gastroenterology and hepatology: the official clinical practice journal of the American Gastroenterological Association 04/2012; 10(9):997-1001. DOI:10.1016/j.cgh.2012.04.015 · 5.64 Impact Factor
  • Marcia Cruz-Correa, Francis M. Giardiello
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    ABSTRACT: – Patients with symptomatic collagenous-lymphocytic colitis should eliminate dietary secretagogues such as caffeine- or lactose-containing food from their diet. When possible, use of nonsteroidal anti-inflammatory drugs should be discontinued. – If steatorrhea is documented, a low-fat diet may be helpful. In the presence of bile salt malabsorption, binding resins such as cholestyramine might be useful. – Nonspecific diarrheal agents such as loperamide hydrochloride, diphenoxylate hydrochloride and atropine, deodorized tincture of opium, or codeine might prove effective in some patients. – Antibacterial agents such as bismuth subsalicylate (8 chewable 262-mg tablets daily) have been effective in symptom control. Metronidazole and erythromycin achieve response rates of 60%. – Sulfasalazine, at the usual dose of 2 to 4 g daily, used in collagenous-lymphocytic colitis, demonstrated cessation of diarrhea in 1 to 2 weeks for 50% of patients. Other 5-aminosalicylic (5-ASA) compounds are preferred for patients with a history of sulfa allergy, and those who experience adverse reactions to sulfasalazine. – Adrenocorticoid medication is reserved for patients whose conventional treatment with sulfasalazine or 5-ASA has failed. Resolution of diarrhea has been documented in 80% to 90% of patients within 1 week of treatment, however, in most patients, long-term therapy is required. – Surgical management is reserved for those patients with disease refractory to medical therapy. Colectomy with ileostomy resulted in clinical and histologic resolution in small case series. – If there is no abatement of symptoms, rule out other etiologies of diarrhea such as thyroid dysfunction, celiac disease, or bacterial overgrowth.
    Current Treatment Options in Gastroenterology 04/2012; 3(3):243-248. DOI:10.1007/s11938-000-0027-6
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    ABSTRACT: OBJECTIVE: Serrated (hyperplastic) polyposis (SP) is a rare disorder with multiple colorectal hyperplastic polyps and often sessile serrated adenomas/polyps (SSA/P) or adenomas. Although associated with colorectal cancer, the course of SP is not well described. DESIGN: 44 patients with SP were studied. The results of 146 colonoscopies with median follow-up of 2.0 years (range 0-30) and a median of 1.0 years (range 0.5-6) between surveillance colonoscopies were evaluated. Findings from oesophogastroduodenoscopy examinations were analysed. RESULTS: The mean age at diagnosis of SP was 52.5±11.9 years (range 22-78). In two pedigrees (5%) another family member had SP. None of 22 patients had gastroduodenal polyps. All patients had additional colorectal polyps at surveillance colonoscopy. SSA/P or adenomas were found in 25 patients (61%) at first colonoscopy and 83% at last colonoscopy. Recurrent SSA/P or adenomas occurred in 68% of patients at surveillance colonoscopy. Three patients had colorectal cancer. Eleven patients (25%) underwent surgery (mean time from diagnosis of SP 2.0±0.9 years). After surgery all seven surveyed patients developed recurrent polyps in the retained colorectum (4/7 had SSA/P or adenomas). No association was found between colorectal neoplasia and sex, age at diagnosis of SP or initial number of colorectal polyps. CONCLUSIONS: In SP, rapid and unrelenting colorectal neoplasia development continues in the intact colorectum and retained segment after surgery. These findings support the possibility of annual colonoscopic surveillance, consideration for colectomy when SSA/P or adenomas are encountered and frequent postoperative endoscopic surveillance of the retained colorectum.
    Gut 04/2012; 62(3). DOI:10.1136/gutjnl-2011-300514 · 13.32 Impact Factor
  • Cancer Research 07/2011; 71(8 Supplement):1838-1838. DOI:10.1158/1538-7445.AM2011-1838 · 9.28 Impact Factor
  • Cancer Research 07/2011; 71(8 Supplement):1813-1813. DOI:10.1158/1538-7445.AM2011-1813 · 9.28 Impact Factor
  • Gastroenterology 07/2011; 140(5). DOI:10.1016/S0016-5085(11)61643-0 · 12.82 Impact Factor
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    ABSTRACT: Familial adenomatous polyposis (FAP) is an autosomal dominant disease with hundreds of colorectal adenomas in teenagers and progression to colorectal cancer if colectomy is not performed. We investigated the association of two phenotypic manifestations-oral mucosal vascular density (OMVD) and oral mucosal reflectance (OMR)--with FAP and patients with multiple colorectal adenomas. Thirty-three patients with FAP from 29 unrelated pedigrees with APC gene mutation, 5 with multiple adenomas and no known gene mutations, and 50 population controls were evaluated for the two different manifestations utilizing a photographic/spectrophotometric system capturing images and reflectance at various wavelengths. Statistical analysis was performed with student t test and test performance characteristics were calculated. There were no significant differences in demographic variables between the FAP and control group. A significant difference in OMVD between FAP patients and controls was noted, P < 0.001. The sensitivity and specificity of oral mucosal vascular density for FAP was 91 and 90%, respectively. No association between this phenotypic manifestation and age or gender was found. All 5 patient with multiple polyps were positive for OMVD and the value was significantly higher than controls, P = 0.002. No significant difference was noted in OMR between the two patient groups and controls. OMVD is a new phenotypic manifestation in patients with FAP and also may identify those with multiple adenomas without known gene mutation.
    Familial Cancer 06/2011; 10(2):309-13. DOI:10.1007/s10689-011-9432-3 · 1.94 Impact Factor

Publication Stats

2k Citations
572.73 Total Impact Points

Institutions

  • 2000–2015
    • Johns Hopkins University
      • Department of Medicine
      Baltimore, Maryland, United States
  • 2009–2014
    • University of Puerto Rico, Medical Sciences Campus
      • Department of Medicine
      San Juan, San Juan, Puerto Rico
  • 2008–2012
    • University of Puerto Rico at Ponce
      Ponce, Ponce, Puerto Rico
  • 2010
    • Polytechnic University of Puerto Rico
      San Juan, San Juan, Puerto Rico
  • 2005–2006
    • Cleveland Clinic
      • Department of Hospital Medicine
      Cleveland, OH, United States
  • 2000–2003
    • Johns Hopkins Medicine
      • Department of Medicine
      Baltimore, Maryland, United States