Julie Dutil

Julie Dutil
Ponce Health Sciences University · Ponce Research Institute Division of Cancer Biology

PhD

About

89
Publications
16,405
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8,476
Citations

Publications

Publications (89)
Article
Full-text available
Compared with non‐Hispanic White women, Latina women are less likely to receive genetic counseling (GC) and testing (GT) following BC diagnosis. This study used secondary data analysis to explore beliefs about GC among Latina BC survivors in and outside the US mainland. GC/GT‐naïve, high‐risk, Spanish‐preferring Latina BC survivors (n = 52) in FL a...
Article
Full-text available
PURPOSE To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United States. METHODS In this cross-sectional study, unrelated individuals with a personal/family history su...
Article
Prostate cancer (PCa) is the leading cause of cancer-related death in Puerto Rican (PR) men, a population at higher risk of developing the disease than other Hispanic/Latino groups. But the relationship between this phenomenon and epigenetics, and how this relationship explains PCa racial and ethnic health disparities are controversial. The purpose...
Article
Aberrant lipid metabolism in prostate tumors is linked to aggressive disease and poor outcomes. The purpose of this study was to identify mechanisms by which lipid metabolism in prostate cancer cells influences the tumor immune microenvironment, with emphasis on the activation of macrophages. Our hypothesis that fatty acid synthase-driven de novo l...
Article
Background: Breast cancer incidence in the United States is lower in Hispanic/Latina compared to African American/Black or Non-Hispanic White women. An Indigenous American breast cancer protective germline variant (rs140068132) has been reported near the Estrogen Receptor 1 gene. This study tests the association of rs140068132 and other polymorphi...
Article
Multiple myeloma (MM) incidence, mortality, and survival varies by race and ethnicity but the causes of these differences remain unclear. We investigated demographic, clinical, and molecular features of diverse MM patients to elucidate mechanisms driving clinical disparities. This study included 495 MM patients (self-reported Hispanic, n=45; non-Hi...
Article
Full-text available
In 2021, approximately 248,530 new prostate cancer (PCa) cases are estimated in the United States. Hispanic/Latinos (H/L) are the second largest racial/ethnic group in the US. The objective of this study was to assess DNA methylation patterns between aggressive and indolent PCa along with ancestry proportions in 49 H/L men from Puerto Rico (PR). Pr...
Article
Full-text available
Next-generation sequencing (NGS) has identified unique biomarkers yielding new strategies in precision medicine for the treatment of Acute lymphoblastic leukemia (ALL). Hispanics show marked health disparities in ALL, often absent in clinical trials or cancer research. Thus, it is unknown whether Hispanics would benefit equally from curated data cu...
Conference Paper
Background: Breast cancer (BC) is the most common and deadliest cancer in women worldwide. Hormone receptor (HR) positive tumors (luminal) are the most frequent while HER-2 overexpressing (HR-, HER2+) and triple negative (TNBC, HR-/HER2-) are most deadly. HR+ subtypes are more common in non-Hispanic White women while HER-2 and TNBC present either h...
Article
Full-text available
Admixed populations are a resource to study the global genetic architecture of complex phenotypes, which is critical, considering that non-European populations are severely underrepresented in genomic studies. Here, we study the genetic architecture of BMI in children, young adults, and elderly individuals from the admixed population of Brazil. Lev...
Article
Full-text available
In 2020, approximately 191,930 new prostate cancer (PCa) cases are estimated in the United States (US). Hispanic/Latinos (H/L) are the second largest racial/ethnic group in the US. This study aims to assess methylation patterns between aggressive and indolent PCa including DNA repair genes along with ancestry proportions. Prostate tumors classified...
Article
Bilateral salpingo-oophorectomy (BSO) is a risk management approach with strong evidence of mortality reduction for women with germline mutations in the tumor suppressor genes BRCA1 and BRCA2 (BRCA1/2). Few studies to date have evaluated uptake of BSO in women from diverse racial and ethnic backgrounds who carry BRCA1/2 mutations. The objective of...
Article
Latinas are less likely to participate in genetic counseling (GC) and genetic testing (GT) than non-Hispanic Whites. A multisite, randomized pilot study tested a culturally targeted educational intervention to increase uptake of GC/GT among Latina breast cancer (BC) survivors (N = 52). Participants were recruited in Tampa, FL and Ponce, PR and rand...
Article
Full-text available
Interleukin-12 (IL-12) is a proinflammatory cytokine that links innate and adaptive immune responses against tumor cells. Single Nucleotide Polymorphisms (SNPs) in IL-12 genes have been associated with cancer risk. However, limited studies have assessed the role of IL-12 in breast cancer (BC) risk comprehensively, and these were done in European an...
Article
Full-text available
There are well-established disparities in cancer incidence and outcomes by race/ethnicity that result from the interplay between structural, socioeconomic, socio-environmental, behavioural and biological factors. However, large research studies designed to investigate factors contributing to cancer aetiology and progression have mainly focused on p...
Conference Paper
Breast cancer (BC) is the most commonly diagnosed cancer among women and is currently classified into four molecular subtypes. These subtypes have been characterized by their distinct immune gene profiles, where only triple-negative (TN) and HER2+ subtypes are recognized for being tumor immunogenic cancers. The main objective of this pilot study is...
Article
Full-text available
Cancer is the leading cause of death in Puerto Rico (PR). Hurricane Maria (HM) and its aftermath lead to widespread devastation on the island, including the collapse of the healthcare system. Medically fragile populations, such as cancer survivors, were significantly affected. The goal of this study was to assess the impact of HM on barriers to car...
Conference Paper
Recent work has pointed to a lack of diversity in genomics studies from genome-wide association studies to somatic (tumor) genome analyses. Yet, population-specific variation has been shown to contribute to health disparities in cancer risk and prognosis. Immortalized cancer cell lines have been widely used for various aspects of cancer research fr...
Article
Full-text available
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...
Article
Full-text available
Inherited pathogenic variants in genes that confer moderate to high risk of breast cancer may explain up to 50% of familial breast cancer. This study aimed at identifying inherited pathogenic variants in breast cancer cases from Puerto Rico that were not linked to BRCA1 or BRCA2. Forty-eight breast cancer patients that met the clinical criteria for...
Preprint
Full-text available
Admixed populations are a resource to study the global genetic architecture of complex phenotypes, which is critical, considering that non-European populations are severely under-represented in genomic studies. Leveraging admixture in Brazilians, whose chromosomes are mosaics of fragments of Native American, European and African origins, we used ge...
Article
Recent work points to a lack of diversity in genomics studies from genome-wide association studies to somatic (tumor) genome analyses. Yet, population-specific genetic variation has been shown to contribute to health disparities in cancer risk and outcomes. Immortalized cancer cell lines are widely used in cancer research, from mechanistic studies...
Article
Full-text available
The last 10 years witnessed an acceleration of our understanding of what genetic factors underpin the risk of breast cancer. Rare high- and moderate-penetrance variants such as those in the BRCA genes account for a small proportion of the familial risk of breast cancer. Low-penetrance alleles are expected to underlie the remaining heritability. By...
Article
Full-text available
Breast cancer is the most common cause of cancer diagnosis in women and is responsible for considerable mortality among the women of Puerto Rico. However, there are few studies in Puerto Rico on the genetic factors influencing risk. To determine the contribution of pathogenic mutations in BRCA1 and BRCA2, we sequenced these genes in 302 cases from...
Article
Background/aim: Microsatellite instability (MSI) results from genetic alterations involving the mismatch repair (MMR) genes MLH1, PSM2, MSH2, and MSH6. MSI has been implicated in both sporadic CRC and Lynch syndrome. The aim of the study was to assess the frequency of alterations in MMR protein expression in both primary colorectal cancer and prec...
Article
In 2017, breast cancer (BC) affected around 29% of Hispanic women in the US according to the American Cancer Society. Among Hispanics, Puerto Rican women are one of the most diverse groups in terms of ancestry and culture. This diversity adds complexity to the BC etiology in this population. Several population studies have suggested ancestry as a B...
Article
Introduction: Germline testing for genes provides an opportunity to reduce mortality and morbidity by adopting appropriate risk reduction and screening options, in particular with risk-reducing bilateral salpingo-oophorectomy (BSO).There is a paucity of data on Latinas and prophylactic measures among carriers.Existing studies are limited either by...
Article
Background: The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the BRCA2 c.6937 + 594T>G variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce a premature termination codon. Our objective was to further assess the pathogenicity...
Article
Full-text available
Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and...
Article
Introduction: To address the lack of genomic data from Hispanic/Latino (H/L) patients with lung cancer, the Latino Lung Cancer Registry was established to collect patient data and biospecimens from these patients. Methods: This retrospective observational study examined lung cancer tumor samples from 163 H/L patients, and tumor-derived DNA was s...
Article
Full-text available
Breast cancer (BC) is a heterogeneous disease which many studies have classified in at least four molecular subtypes: Luminal A, Luminal B, HER2-Enriched, and Basal-like (including triple-negative breast cancer, TNBC). These subtypes provide information to stratify patients for better prognostic predictions and treatment selection. Individuals vary...
Article
The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid...
Article
Estrogen receptor (ER) status is an established therapeutic and prognostic biomarker for breast cancer (BC). ER signaling has a propensity to increase proliferation, which can lead to mutations when DNA repair is dysregulated. Deficiencies in DNA repair capacity (DRC) is a hallmark of BC. Recent studies have documented interactions between ER and D...
Poster
Breast cancer (BC) is one of the leading causes of cancer-related deaths among women worldwide. Interleukin-12 (IL-12) has demonstrated anti-cancer effects in vitro and in vivo. IL-12 signaling occurs mainly through STAT4, and it induces anti-tumorigenic actions such as promotion of apoptosis, differentiation of T helper 1 (Th1) cells, increasing i...
Article
Full-text available
Estrogen-receptor-positive (ER+) tumors employ complex signaling that engages in crosstalk with multiple pathways through genomic and non-genomic regulation. A greater understanding of these pathways is important for developing improved biomarkers that can better determine treatment choices, risk of recurrence and cancer progression. Deficiencies i...
Data
Potential pleotropic effects of estrogen on proliferation, DNA damage and DNA repair capacity in breast cancer cells. Estrogen can have a variety of effect on the tumor cells some of which may involve DNA repair signaling specially among HER2(-) tumors. (A) In the canonical pathway, ER binds to the promoter regions of genes involved in cell cycle p...
Article
Full-text available
Hereditary cancer predisposition gene testing allows the identification of individuals at high risk of cancer that may benefit from increased surveillance, chemoprevention, and prophylactic surgery. In order to implement clinical genetic strategies adapted to each population’s needs and intrinsic genetic characteristic, this review aims to present...
Data
Nomenclature of the pathogenic variants identified in US Hispanics, Latin America and the Caribbean. Designations from the Breast Cancer Information Core (BIC, https://research.nhgri.nih.gov/projects/bic/Member/index.shtml), Human Genome Variation Society (HGVS, http://www.hgvs.org/), the single nucleotide polymorphisms database (dbSNP, http://www....
Data
Protocol for the identification and selection of the studies to be included. Pubmed database was searched for combination of the following MeSH terms: “Genes, BRCA1” or “Genes, BRCA2” and “South America” or “Central America” or “Caribbean Region” or “Hispanic Americans” or “Mexico” and “Mutation” or “Hereditary Breast and Ovarian Cancer Syndrome”....
Article
Full-text available
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-covera...
Poster
nterleukin-12 (IL-12) is a dimeric cytokine which has demonstrated anti-cancer effects in vitro and in vivo. However, the role of this cytokine in breast cancer (BC) has not been studied thoroughly. In this pilot study, the levels of the IL-12 p70 and IL-12 p40 secreted from PBMCs of de novo-BC patients, BC patients in remission, and non-BC control...
Article
Full-text available
Previous studies have found a link between a low DNA repair capacity (DRC) level and increased risk for breast cancer (BC). A recent study by Matta et al. 2012 showed that women with BC have an average reduction of 60% in DRC compared to controls (P < 0.001). Using the same group of Hispanic women, we selected a subgroup of cases (n=35) and control...
Article
Studies have shown that DNA repair capacity (DRC) is significantly decreased in breast cancer patients, but the molecular causes of inter-individual variation in DRC are unknown. We hypothesized that genetic variation in the nucleotide excision repair pathway genes can modulate DRC and breast cancer risk in Puerto Rican women. A total of 228 breast...
Article
Full-text available
There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, and how current inhabitants relate genetically to earlier populations. Recent studies unraveled parts of the genetic history of th...
Article
Full-text available
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By...
Article
Full-text available
Background Previous studies have found a link between a low DNA repair capacity (DRC) level and increased cancer risk. Our aim was to assess the statistical association of DRC level and breast cancer (BC) using a case–control epidemiological study in a Hispanic community. Methods We conducted a comparative observational study to assess the validit...
Article
Breast cancer is the most commonly diagnosed cancer among women in Puerto Rico. Previous studies have shown that dysregulation of DNA repair genes expression is important for carcinogenesis. However, most of the studies have focused on measuring DNA repair gene expression levels in tumor samples. Our preliminary studies had shown that women with de...
Article
Introduction: The incidence and clinical presentation of Basal-cell carcinoma (BCC) vary among different ethnic subgroups. In the Hispanic population of Puerto Rico, the contribution of genetic ancestral factors in determining BCC risk and its clinical presentation is unknown. Methods: The study population consists of 83 BCC skin cancer cases and 8...
Poster
Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL The HCR assay was developed by Athas et al. 1991 to measure DRC. DNA can be transiently transfected when introduced into a cell. When damaged, its expression will depend on the repair capacity of the host cell. A non-replicating plasmid expression vector (pCMVluc, 4,863...
Article
Mutations in the breast cancer 1, early onset (BRCA1) and breast cancer 2 (BRCA2) genes are responsible for the majority of hereditary breast cancers. Knowledge of the incidence and prevalence of BRCA mutations in a specific population or ethnic group is necessary to provide accurate genetic counseling for breast cancer patients and their families;...
Article
Full-text available
The population of Argentina is the result of the intermixing between several groups, including Indigenous American, European and African populations. Despite the commonly held idea that the population of Argentina is of mostly European origin, multiple studies have shown that this process of admixture had an impact in the entire Argentine populatio...
Data
1st and 2nd Multidimensional components of samples from Buenos Aires metropolitan area and ancestral individuals (black triangles). Samples from the Capital are represented in green, from the 1st urban belt in pink, and from the 2nd urban in orange. (TIF)
Data
List of ancestry informative markers (AIMs) with chromosomal position and allele frequency in European, African and Indigenous American samples. (XLSX)
Data
Correlation coefficients between genome wide ancestry estimates and 99 ancestry informative markers (AIMs) estimates. (DOC)
Data
Map of Federal District and first, second and third belt. (TIF)
Data
1st and 2nd Multidimensional components of samples from the cities of Buenos Aires, Mexico and San Juan, including European, African and Indigenous American ancestrals (black triangles). Samples from Buenos Aires are in gold, samples from Mexico are in light blue and samples from Puerto Rico are in purple. (TIF)
Data
Individual information on the number of grandparents born in Argentina (by region), other South American country or Europe. (XLS)
Article
Full-text available
This study explored baseline levels of knowledge and attitude toward genetic testing (GT) for hereditary breast and ovarian cancer among Puerto Rican women. A secondary aim was to evaluate whether these factors differed between respondents in Puerto Rico and Tampa. Puerto Rican women with a personal or family history of breast or ovarian cancer who...
Article
A goal of the Minority Institution/Cancer Center Partnership between the Ponce School of Medicine in Puerto Rico and the H. Lee Moffitt Cancer Center & Research Institute in Florida is to provide cross-cultural training in cancer research. This is achieved through a collaborative summer exchange program, which provides US students with an opportuni...