Publications by authors named "Jonine Figueroa"

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  • Clinical genetic testing helps find cancer risks by identifying gene changes, but some of these changes are confusing because we don't know what they mean (called VUS).
  • Researchers studied a huge number of breast cancer patients and healthy people to understand these confusing gene changes better.
  • They found that their method of analyzing data closely matches what other experts say about which gene changes are harmless or harmful, giving more information about 785 unclear changes.
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  • * Analysis of data from over 55,000 breast cancer patients showed that co-observation of variants in BRCA1, BRCA2, and PALB2 with other breast cancer genes occurred less frequently than expected, suggesting a potential correlation with pathogenicity.
  • * The findings indicate that identifying a variant of uncertain significance alongside a known pathogenic variant supports evidence against the variant's pathogenicity, which could improve variant classification in clinical settings and for other genetic conditions.
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  • The stromal microenvironment (SME) in breast cancer plays a crucial role in tumor behavior and response to treatment; its relationship with pre-diagnostic factors, especially in women of African ancestry, is not well understood.
  • A study analyzed 792 breast cancer patients to identify how pre-diagnostic host factors influenced SME characteristics using machine learning on tissue images, revealing that certain factors like parity and family history correlated with higher stromal cellular density.
  • The results suggest that epidemiological risk factors may impact tumor biology through changes in the SME, emphasizing the importance of considering these factors in breast cancer studies.
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Introduction: Benign breast disease (BBD) and high mammographic breast density (MBD) are prevalent and independent risk factors for invasive breast cancer. It has been suggested that temporal changes in MBD may impact future invasive breast cancer risk, but this has not been studied among women with BBD.

Methods: We undertook a nested case-control study within a cohort of 15,395 women with BBD in Kaiser Permanente Northwest (KPNW; 1970-2012, followed through mid-2015).

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  • Scientists looked at how certain genes may affect breast cancer in women with African ancestry.
  • They studied 9,241 women with breast cancer and compared them to 10,193 healthy women to find links between the genes and the disease.
  • They found specific gene variations that could increase the risk of breast cancer, especially types of cancer that don't depend on estrogen.
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Epidemiologic data on insecticide exposures and breast cancer risk are inconclusive and mostly from high-income countries. Using data from 1071 invasive pathologically confirmed breast cancer cases and 2096 controls from the Ghana Breast Health Study conducted from 2013 to 2015, we investigated associations with mosquito control products to reduce the spread of mosquito-borne diseases, such as malaria. These mosquito control products were insecticide-treated nets, mosquito coils, repellent room sprays, and skin creams for personal protection against mosquitos.

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Background: Elevated standardised mortality ratio of cardiovascular diseases (CVD) in patients with brain tumours may result from differences in the CVD incidences and cardiovascular risk factors. We compared the risk of CVD among patients with a primary malignant or non-malignant brain tumour to a matched general population cohort, accounting for other co-morbidities.

Methods: Using data from the Secured Anonymised Information Linkage (SAIL) Databank in Wales (United Kingdom), we identified all adults aged ≥ 18 years in the primary care database with first diagnosis of malignant or non-malignant brain tumour identified in the cancer registry in 2000-2014 and a matched cohort (case-to-control ratio 1:5) by age, sex and primary care provider from the general population without any cancer diagnosis.

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Unlabelled: Women of African descent have the highest breast cancer mortality in the United States and are more likely than women from other population groups to develop an aggressive disease. It remains uncertain to what extent breast cancer in Africa is reminiscent of breast cancer in African American or European American patients. Here, we performed whole-exome sequencing of genomic DNA from 191 breast tumor and non-cancerous adjacent tissue pairs obtained from 97 African American, 69 European American, 2 Asian American, and 23 Kenyan patients.

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  • Light-at-night exposure is linked to decreased melatonin production from the pineal gland and is considered a potential risk factor for breast cancer by the IARC.
  • A study of 44,405 women examined the relationship between breast cancer risk and genetic variations (SNPs) associated with melatonin synthesis and signaling, using logistic regression for analysis.
  • Significant findings included 10 SNPs in the TPH2 gene and one in the MAPK8 gene, suggesting that these genetic factors may influence breast cancer risk, particularly in relation to circadian disruptions caused by light exposure at night.
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Background: Women from socioeconomically deprived areas have lower breast cancer (BC) incidence rates for screen-detected oestrogen receptor (ER) + tumours and higher mortality for select tumour subtypes. We aimed to determine if ipsilateral breast cancer recurrence (IBR) differs by Scottish Index of Multiple Deprivation (SIMD) quintile and tumour subtype in Scotland.

Methods: Patient data for primary invasive BC diagnosed in 2007-2008 in Scotland was analysed.

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COVID-19 has strained population breast mammography screening programs that aim to diagnose and treat breast cancers earlier. As the pandemic has affected countries differently, we aimed to quantify changes in breast screening volume and uptake during the first year of COVID-19 . We systematically searched Medline, the World Health Organization (WHO) COVID-19 database, and governmental databases.

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  • A genome-wide study explored gene-environment interactions (G×E) to identify variants that could impact breast cancer risk, analyzing data from around 72,285 breast cancer cases and 80,354 controls.
  • Researchers found two specific SNP-risk factor pairs that showed a significant association with breast cancer risk, including variations related to adult height and age at menarche.
  • Overall, the study concluded that G×E interactions contribute minimally to the heritability of breast cancer and don't significantly enhance risk prediction for the disease.
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  • Breast cancer patients with the CHEK2 c.1100delC variant have a heightened risk of developing a second breast cancer (contralateral breast cancer) and generally experience worse survival outcomes compared to those without the variant.
  • A study involving over 82,000 women aimed to evaluate how the CHEK2 variant, radiotherapy, and systemic treatments affect the risk of contralateral breast cancer and breast cancer-specific survival.
  • Findings indicated that while systemic therapy (especially the combination of chemotherapy and endocrine therapy) lowers the risk of contralateral breast cancer, CHEK2 c.1100delC carriers still faced poorer survival rates, suggesting other factors at play beyond the risk of developing a second cancer.*
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The human fecal and oral microbiome may play a role in the etiology of breast cancer through modulation of endogenous estrogen metabolism. This study aimed to investigate associations of circulating estrogens and estrogen metabolites with the fecal and oral microbiome in postmenopausal African women. A total of 117 women with fecal (N = 110) and oral (N = 114) microbiome data measured by 16S rRNA gene sequencing, and estrogens and estrogen metabolites data measured by liquid chromatography tandem mass spectrometry were included.

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  • The study aims to identify new genetic variants that increase the risk of bladder cancer using data from 32 studies involving 13,790 patients and 343,502 control subjects of European descent.
  • Researchers discovered multiple novel susceptibility loci and enhanced signals in known regions, achieving a total of 24 significant markers linked to bladder cancer risk.
  • The findings indicate that the risk is further influenced by factors such as sex and smoking status, with a polygenic risk score showing a significant difference in lifetime risk for bladder cancer based on genetic predisposition.
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  • The stromal microenvironment (SME) plays a significant role in tumor biology, impacting factors such as cancer aggressiveness and treatment response, particularly in women of African ancestry who suffer from severe breast cancer types.
  • A study involving 792 breast cancer patients in Ghana utilized machine-learning algorithms to analyze SME characteristics, revealing a connection between tumor-stroma ratio (TSR) and tumor-associated stromal cellular density (Ta-SCD) with tumor grades.
  • Findings indicated that lower TSR and higher Ta-SCD were linked to more aggressive tumors, with factors like parity and family history of breast cancer influencing Ta-SCD levels, while larger body sizes correlated with lower Ta-SCD.
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Background: The immune landscape of breast cancer (BC) in patients from Sub Saharan Africa is understudied. Our aims were to describe the distribution of Tumour Infiltrating Lymphocytes (TILs) within the intratumoural stroma (sTILs) and the leading/invasive edge stroma (LE-TILs), and to evaluate TILs across BC subtypes with established risk factors and clinical characteristics in Kenyan women.

Methods: Visual quantification of sTILs and LE-TILs were performed on Haematoxylin and eosin -stained pathologically confirmed BC cases based on the International TIL working group guidelines.

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Background: Characterization of the breast cancer (BC) immune response may provide information for a point of intervention, such as application of immunotherapeutic treatments. In this study, we sought to recover and characterize the adaptive immune receptor (IR) recombination reads from genomics files representing Kenyan patients, to better understand the immune response specifically related to those patients.

Methods: We used a previously applied algorithm and software to obtain productive IR recombination reads from cancer and adjacent normal tissue samples representing 22 Kenyan BC patients.

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Article Synopsis
  • - The study investigated the links between genetic variants in breast cancer susceptibility genes (besides BRCA1, BRCA2, and CHEK2) and risks of developing contralateral breast cancer (CBC) and breast cancer-specific survival (BCSS) in 34,401 women of European ancestry who had been diagnosed with breast cancer.
  • - Significant findings revealed that protein-truncating variants (PTVs) and certain missense variants (MSVs) in genes like BRCA1, BRCA2, TP53, CHEK2, and PALB2 were associated with higher CBC risk and negative impacts on BCSS, indicating that these genetic factors play a crucial role in cancer outcomes.
  • - The results showed minimal
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Breast cancer (BC) patients with a germline c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. We aimed to assess the associations of c.

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In Kenya, cancer is the third leading cause of death. The African Inland Church Kijabe Hospital (AICKH) is a level 4 missionary hospital. The hospital serves the Kenyan population in many areas, including cancer care, and some of these services were affected during the coronavirus disease 2019 (COVID-19) pandemic.

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Background: Cancer and anti-cancer treatment (ACT) may be risk factors for severe SARS-CoV-2 infection and limited vaccine efficacy. Long-term longitudinal studies are needed to evaluate these risks. The Scottish COVID cancer immunity prevalence (SCCAMP) study characterizes the incidence and outcomes of SARS-CoV-2 infection and vaccination in patients with solid tumors undergoing ACT.

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Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry.

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Article Synopsis
  • - Genome-wide association studies have identified over 200 genetic variants linked to breast cancer, but these only account for a small portion of the overall risk, prompting researchers to explore the role of gene-environment interactions.
  • - The study used data from over 93,000 individuals to analyze how predicted gene expression might interact with 14 known risk factors for breast cancer, employing rigorous statistical methods to assess these interactions.
  • - Ultimately, the research found no strong evidence supporting significant gene-environment interactions affecting breast cancer risk, indicating that these genetic expressions may play a limited role in modifying the impact of established risk factors.
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