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Breast Cancer Genetics

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Women's Health".

Deadline for manuscript submissions: closed (28 February 2022) | Viewed by 12715

Special Issue Editor

Dr. Athena Starlard-Davenport

E-Mail Website
Guest Editor
Department of Genetics, Genomics and Informatics, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Interests: breast cancer genetics; microbiome; cancer health disparities; community outreach; epigenetics; globin gene regulation; sickle cell disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Breast cancer survival rates are steadily increasing thanks to improvements in screening technologies, risk assessment, and the development of targeted and effective treatment modalities. Despite these improvements, however, approximately 1 out of every 8 women will still be diagnosed with breast cancer. Of those women, young women of color are most at risk of developing and dying from aggressive forms of breast cancer that are hormone-receptor-negative and nonresponsive to targeted therapies. In the past decade or so, research efforts in genetics have greatly enhanced our understanding of biological factors that contribute to breast cancer. However, we still have a long way to go. To move the field forward, we need a more personalized approach to breast cancer risk assessment that is inclusive of diverse and underrepresented populations.

For this Special Issue of the International Journal of Environmental Research and Public Health, we invite research papers, reviews, case reports, methodological papers, brief reports, and commentaries on breast cancer genetics (including risk assessment, prevention, detection, and treatment), racial disparities; breast tumor microbiome; pharmacogenetics; genetic ancestry; and admixture mapping. Genetic, epigenetic, and transcriptome-wide association studies on etiology, incidence, behaviors, mortality, and other factors relevant to breast cancer genetics are welcome. International submissions are encouraged.

Dr. Athena Starlard-Davenport
Guest Editor

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.

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Keywords

  • Breast cancer
  • Racial disparities
  • Molecular epidemiology
  • Genetic variation
  • Epigenetic and transcriptome-wide association studies
  • Breast microbiome
  • Risk assessment
  • Pharmacogenetics and genomics

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Published Papers (4 papers)

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Research

13 pages, 329 KiB  
Article
Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients
by Radu Vidra, Tudor Eliade Ciuleanu, Adina Nemeș, Oana Pascu, Ana Maria Heroiu, Nicoleta Antone, Andreea Iulia Vidrean, Cristina Marinela Oprean, Laura Ancuta Pop, Ioana Berindan-Neagoe, Rares Eniu and Alexandru Eniu
Int. J. Environ. Res. Public Health 2022, 19(7), 4314; https://doi.org/10.3390/ijerph19074314 - 4 Apr 2022
Cited by 11 | Viewed by 3043
Abstract
Background: About 10,000 women are diagnosed with breast cancer and about 2000 women are diagnosed with ovarian cancer each year in Romania. There is an insufficient number of genetic studies in the Romanian population to identify patients at high risk of inherited breast [...] Read more.
Background: About 10,000 women are diagnosed with breast cancer and about 2000 women are diagnosed with ovarian cancer each year in Romania. There is an insufficient number of genetic studies in the Romanian population to identify patients at high risk of inherited breast and ovarian cancer. Methods: We evaluated 250 women of Romanian ethnicity with BC and 240 women of Romanian ethnicity with ovarian cancer for the presence of damaging germline mutations in breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively) using Next-Generation Sequencing (NGS) technology. Results: Of the 250 breast cancer patients, 47 carried a disease-predisposing BRCA mutation (30 patients (63.83%) with a BRCA1 mutation and 17 patients (36.17%) with a BRCA2 mutation). Of the 240 ovarian cancer patients, 60 carried a BRCA mutation (43 patients (72%) with a BRCA1 mutation and 17 patients (28%) with a BRCA2 mutation). In the BRCA1 gene, we identified 18 variants (4 in both patient groups (ovarian and breast cancer patients), 1 mutation variant in the BC patient group, and 13 mutation variants in the ovarian cancer patient group). In the BRCA2 gene, we identified 17 variants (1 variant in both ovarian and breast cancer patients, 6 distinct variants in BC patients, and 10 distinct variants in ovarian cancer patients). The prevailing mutation variants identified were c.3607C>T (BRCA1) (18 cases) followed by c.5266dupC (BRCA1) (17 cases) and c.9371A>T (BRCA2) (12 cases). The most prevalent mutation, BRCA1 c.3607C>T, which is less common in the Romanian population, was mainly associated with triple-negative BC and ovarian serous adenocarcinoma. Conclusion: The results of our analysis may help to establish specific variants of BRCA mutations in the Romanian population and identify individuals at high risk of hereditary breast and ovarian cancer syndrome by genetic testing. Full article
(This article belongs to the Special Issue Breast Cancer Genetics)
10 pages, 468 KiB  
Article
Association between Neighborhood Social Deprivation and Stage at Diagnosis among Breast Cancer Patients in South Carolina
by Oluwole Adeyemi Babatunde, Whitney E. Zahnd, Jan M. Eberth, Andrew B. Lawson, Swann Arp Adams, Eric Adjei Boakye, Melanie S. Jefferson, Caitlin G. Allen, John L. Pearce, Hong Li and Chanita Hughes Halbert
Int. J. Environ. Res. Public Health 2021, 18(22), 11824; https://doi.org/10.3390/ijerph182211824 - 11 Nov 2021
Cited by 14 | Viewed by 3229
Abstract
The purpose of this study was to examine the association between neighborhood social deprivation and individual-level characteristics on breast cancer staging in African American and white breast cancer patients. We established a retrospective cohort of patients with breast cancer diagnosed from 1996 to [...] Read more.
The purpose of this study was to examine the association between neighborhood social deprivation and individual-level characteristics on breast cancer staging in African American and white breast cancer patients. We established a retrospective cohort of patients with breast cancer diagnosed from 1996 to 2015 using the South Carolina Central Cancer Registry. We abstracted sociodemographic and clinical variables from the registry and linked these data to a county-level composite that captured neighborhood social conditions—the social deprivation index (SDI). Data were analyzed using chi-square tests, Student’s t-test, and multivariable ordinal regression analysis to evaluate associations. The study sample included 52,803 female patients with breast cancer. Results from the multivariable ordinal regression model demonstrate that higher SDI (OR = 1.06, 95% CI: 1.02–1.10), African American race (OR = 1.35, 95% CI: 1.29–1.41), and being unmarried (OR = 1.17, 95% CI: 1.13–1.22) were associated with a distant stage at diagnosis. Higher tumor grade, younger age, and more recent year of diagnosis were also associated with distant-stage diagnosis. As a proxy for neighborhood context, the SDI can be used by cancer registries and related population-based studies to identify geographic areas that could be prioritized for cancer prevention and control efforts. Full article
(This article belongs to the Special Issue Breast Cancer Genetics)
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14 pages, 631 KiB  
Article
Mouse Mammary Tumor Virus (MMTV)-Like env Sequence in Brazilian Breast Cancer Samples: Implications in Clinicopathological Parameters in Molecular Subtypes
by Nathália de Sousa Pereira, Glauco Akelinghton Freire Vitiello, Bruna Karina Banin-Hirata, Glaura Scantamburlo Alves Fernandes, Maria José Sparça Salles, Marla Karine Amarante and Maria Angelica Ehara Watanabe
Int. J. Environ. Res. Public Health 2020, 17(24), 9496; https://doi.org/10.3390/ijerph17249496 - 18 Dec 2020
Cited by 11 | Viewed by 2681
Abstract
Background: Breast cancer (BC) is a complex disease in which susceptibility and clinical course depend on multiple factors. Evidence suggests that a mouse mammary tumor virus (MMTV)-homolog may be present in human BCs; however, little is known about its clinical implications. Methods: MMTV-like [...] Read more.
Background: Breast cancer (BC) is a complex disease in which susceptibility and clinical course depend on multiple factors. Evidence suggests that a mouse mammary tumor virus (MMTV)-homolog may be present in human BCs; however, little is known about its clinical implications. Methods: MMTV-like env nucleotide-sequence was searched in tumor and tumor-adjacent tissues from 217 Brazilian BC patients through nested-PCR and confirmed through PCR-sequencing. Blood samples were also tested for patients with MMTV-like env gene-positive tumors. Correlations with clinicopathological parameters were evaluated. Results: MMTV-like env sequence was detected in tumor and tumor-adjacent tissue samples from 41/217 and 30/196 patients, respectively. In blood, MMTV-like was detected in 17/32 patients. In Luminal-B tumors, MMTV-like in tumor tissue was negatively correlated with tumor size and disease stage, whereas in HER2 tumors it anti-correlated with lymph node metastasis (LNM) and disease stage. Considering blood, MMTV-like env gene positivity negatively correlated with age in general BC, while in Luminal-A tumors it positively correlated with Ki67 but negatively correlated with age and LNM. The associations with decreased LNM frequency were independent of other prognostic factors. Conclusion: MMTV-like env positivity is associated with better prognostic parameters in BC subtypes, which might be explainable by its anti-metastatic potential and by putative activation of immune milieu. Full article
(This article belongs to the Special Issue Breast Cancer Genetics)
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11 pages, 325 KiB  
Article
Representation of CYP3A4, CYP3A5 and UGT1A4 Polymorphisms within Croatian Breast Cancer Patients’ Population
by Kristina Bojanic, Lucija Kuna, Ines Bilic Curcic, Jasenka Wagner, Robert Smolic, Kristina Kralik, Tomislav Kizivat, Gordana Ivanac, Aleksandar Vcev, George Y. Wu and Martina Smolic
Int. J. Environ. Res. Public Health 2020, 17(10), 3692; https://doi.org/10.3390/ijerph17103692 - 23 May 2020
Cited by 5 | Viewed by 3016
Abstract
Single nucleotide polymorphism (SNP) in genes encoding drug-metabolizing enzymes (DME) could have a critical role in individual responses to anastrozole. Frequency of CYP3A4*1B, CYP3A5*3 and UGT1A4*2 SNPs in 126 Croatian breast cancer (BC) patients and possible association with anastrozole-induced undesirable side effects were [...] Read more.
Single nucleotide polymorphism (SNP) in genes encoding drug-metabolizing enzymes (DME) could have a critical role in individual responses to anastrozole. Frequency of CYP3A4*1B, CYP3A5*3 and UGT1A4*2 SNPs in 126 Croatian breast cancer (BC) patients and possible association with anastrozole-induced undesirable side effects were analyzed. Eighty-two postmenopausal patients with estrogen receptor (ER)-positive BC treated with anastrozole and 44 postmenopausal ER-positive BC patients before hormonal adjuvant therapy were included in the study. Genomic DNA was genotyped by TaqMan Real-Time PCR. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry. The homozygotes for the variant G allele of CYP3A5*3 were predominant (88%), and the homozygotes for the reference A allele were not detected. While homozygotes for the variant G allele of CYP3A4*1B were not detected, predominantly wild type homozygotes for A allele (94%) were present. CYP3A4*1B and CYP3A5*3 SNPs were in 84.3% linkage disequilibrium (D’ = 0.843) and 95.1% (D’ = 0.951) in group treated with anastrozole and w/o treatment, respectively. Homozygotes for the A allele of UGT1A4*2 were not detected in our study groups. Although the variant CYP3A5*3 allele, which might result in poor metabolizer phenotype and more pronounced side effects, was predominant, significant association with BMD changes induced by anastrozole were not confirmed. Full article
(This article belongs to the Special Issue Breast Cancer Genetics)
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