The Establishment of the First Cancer Tissue Biobank at a Hispanic-Serving Institution: A National Cancer Institute–Funded Initiative between Moffitt Cancer Center in Florida and the Ponce School of Medicine and Health Sciences in Puerto Rico

Flores, Idhaliz; Muñoz-Antonia, Teresita; Matta, Jaime; García, Miosotis; Fenstermacher, David; Gutierrez, Sylvia; Seijo, Edward; Torres-Ruiz, Jose A.; Pledger, W. J.; Coppola, Domenico

doi:10.1089/bio.2011.0028

Cited by 8 publications

(3 citation statements)

References 19 publications

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“…The Latino Colorectal Cancer Consortium (LC3) is a partnership between several epidemiologic studies and biobanks to promote harmonized infrastructure for the study of CRC disparities among heterogeneous Latino communities and between the Latino population and other racial and ethnic groups. It includes patient data and biospecimens from three underlying studies: the Hispanic Colorectal Cancer Study (HCCS) (17), the Puerto Rico Biobank (PRBB) (18), and Total Cancer Care (TCC) at H. Lee Moffitt Cancer Center and Research Institute (19) and from TCGA (https://portal.gdc.cancer.gov). Detailed information on recruitment and selection of study participants is provided in the Supplementary Materials .…”

Section: Methodsmentioning

confidence: 99%

Spectrum of somatic mutational features of colorectal tumors in ancestrally diverse populations

Matejcic,

Teer,

Hoehn

et al. 2024

Preprint

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Ancestrally diverse and admixed populations, including the Hispanic/Latino/a/x/e community, are underrepresented in cancer genetic and genomic studies. Leveraging the Latino Colorectal Cancer Consortium, we analyzed whole exome sequencing data on tumor/normal pairs from 718 individuals with colorectal cancer (128 Latino, 469 non-Latino) to map somatic mutational features by ethnicity and genetic ancestry. Global proportions of African, East Asian, European, and Native American ancestries were estimated using ADMIXTURE. Associations between global genetic ancestry and somatic mutational features across genes were examined using logistic regression. TP53, APC, and KRAS were the most recurrently mutated genes. Compared to non-Latino individuals, tumors from Latino individuals had fewer KRAS (OR=0.64, 95%CI=0.41,0.97, p=0.037) and PIK3CA mutations (OR=0.55, 95%CI=0.31,0.98, p=0.043). Genetic ancestry was associated with presence of somatic mutations in 39 genes (FDR-adjusted LRT p<0.05). Among these genes, a 10% increase in African ancestry was associated with significantly higher odds of mutation in KNCN (OR=1.34, 95%CI=1.09,1.66, p=5.74x10-3) and TMEM184B (OR=1.53, 95%CI=1.10,2.12, p=0.011). Among RMGs, we found evidence of association between genetic ancestry and mutation status in CDC27 (LRT p=0.0084) and between SMAD2 mutation status and AFR ancestry (OR=1.14, 95%CI=1.00,1.30, p=0.046). Ancestry was not associated with tumor mutational burden. Individuals with above-average Native American ancestry had a lower frequency of microsatellite instable (MSI-H) vs microsatellite stable tumors (OR=0.45, 95%CI=0.21,0.99, p=0.048). Our findings provide new knowledge about the relationship between ancestral haplotypes and somatic mutational profiles that may be useful in developing precision medicine approaches and provide additional insight into genomic contributions to cancer disparities.

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Section: Methodsmentioning

confidence: 99%

Spectrum of somatic mutational features of colorectal tumors in ancestrally diverse populations

Matejcic,

Teer,

Hoehn

et al. 2024

Preprint

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“…In order to contribute to the PRBB, participants were required to confirm their Puerto Rican heritage as indicated by having at least three Puerto Rican grandparents. Processes of informed consent, collection, processing, and storage of samples are published in detail elsewhere 19 . Briefly, we obtained de-identified stored peripheral blood samples from 122 healthy controls and 78 randomly selected cancer patients diagnosed with cancers other than melanoma (Supplemental Table 1) for isolation of DNA.…”

Section: Puerto Rico Biobank (Prbb)mentioning

confidence: 99%

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population

Smit

Collazo-Roman

Vadaparampil

et al. 2020

Sci Rep

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Skin cancer risk information based on melanocortin-1 receptor (MC1R) variants could inform prevention and screening recommendations for Hispanics, but limited evidence exists on the impact of MC1R variants in Hispanic populations. We studied Hispanic subjects, predominately of puerto Rican heritage, from tampa, florida, US, and ponce, pR. Blood or saliva samples were collected by prospective recruitment or retrieved from biobanks for genotyping of MC1R variants and ancestry informative markers. participant demographic and self-reported phenotypic information was collected via biobank records or questionnaires. We determined associations of MC1R genetic risk categories and phenotypic variables and genetic ancestry. over half of participants carried MC1R variants known to increase risk of skin cancer, and there was diversity in the observed variants across sample populations. Associations between MC1R genetic risk groups and some pigmentation characteristics were identified. Among puerto Ricans, the proportion of participants carrying MC1R variants imparting elevated skin cancer risk was consistent across quartiles of european, African, and native American genetic ancestry. these findings demonstrate that MC1R variants are important for pigmentation characteristics in Hispanics and that carriage of high risk MC1R alleles occurs even among Hispanics with stronger African or native American genetic ancestry.

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“…The Biobanking clerkship provides fourth year medical students with 1) a clinical research rotation at the clinical sites where tissues are collected for the PHSU-MCC Partnership run Puerto Rico Biobank, with an emphasis in Surgery (assistance in the process of tissue accrual and timely transport to Pathology) and Pathology (observation of tissue processing, annotation, and preservation), 2) training (webinars, power point presentations, observational) on the basis of pathological analysis, biobanking principles, and the ethical issues of human subjects research, and 3) experiences in patient recruitment, completion of questionnaires, tissue accrual, specimen transport, processing and storage, inventory keeping, and demographic/clinical/pathology data entry for tumor specimens. The establishment of the Puerto Rico Biobank through support of the PHSU-MCC Partnership is reported in Flores et al, [17] and elsewhere in this journal [18]. …”

Section: Approachmentioning

confidence: 99%

Building a Long Distance Training Program to Enhance Clinical Cancer Research Capacity in Puerto Rico

Appleyard¹,

Antonia²,

Sullivan³

et al. 2015

RRCT

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Barriers persist in the development and delivery of effective cancer therapies to under-represented minority populations. In Puerto Rico, cancer is the second leading cause of death, yet cancer research awareness and training opportunities remain somewhat limited on the island. These limitations hinder progress toward decreasing the cancer health disparities that exist within the Puerto Rican population. The predominantly Hispanic population of Puerto Rico is the focus of a partnership between the Ponce Health Sciences University-Medical School and Ponce Research Institute (PHSU) in Ponce, Puerto Rico and the H. Lee Moffitt Cancer Center in Tampa, Florida. The Partnership goals are to reduce these barriers through an integrated, multipronged approach of training and education alongside outreach and research components. This report describes the approaches, successes and challenges of enhancing clinical cancer research capacity on the island and the unique challenges of a partnership between two institutes physically separated by long distances. Once fully developed this model may be exportable to other Latin American countries where the need is even greater.

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The Establishment of the First Cancer Tissue Biobank at a Hispanic-Serving Institution: A National Cancer Institute–Funded Initiative between Moffitt Cancer Center in Florida and the Ponce School of Medicine and Health Sciences in Puerto Rico

Cited by 8 publications

References 19 publications

Spectrum of somatic mutational features of colorectal tumors in ancestrally diverse populations

Spectrum of somatic mutational features of colorectal tumors in ancestrally diverse populations

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population

Building a Long Distance Training Program to Enhance Clinical Cancer Research Capacity in Puerto Rico

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