Article
Biochemistry & Molecular Biology
Sebastian Morales-Pison, Julio C. Tapia, Sarai Morales-Gonzalez, Edio Maldonado, Monica Acuna, Gloria M. Calaf, Lilian Jara
Summary: This study found that specific germline variants in driver genes MAP3K1, SF3B1, and SMAD4 contribute to the risk of breast cancer in the Chilean population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Cell Biology
Liwen Zhang, Lu Han, Yubei Huang, Ziwei Feng, Xin Wang, Haixin Li, Fangfang Song, Luyang Liu, Junxian Li, Hong Zheng, Peishan Wang, Fengju Song, Kexin Chen
Summary: The study revealed an association between SNPs within microRNA binding sites and breast cancer prognosis, with the LRRK2 rs10878441 CC genotype being specifically linked to poor prognosis. This genotype may serve as a potential prognostic biomarker for breast cancer. Stratified analyses demonstrated the relevance of rs10878441 in grade II patients and lymph node-negative patients in terms of breast cancer prognosis.
Review
Cell Biology
Farbod Bahreini, Elham Rayzan, Nima Rezaei
Summary: Breast cancer, a multifactorial disease, may have an increased risk due to alterations in microRNA sequences. miR-SNPs are potential biomarkers for early detection of breast cancer.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Oncology
Jung Hun Oh, Sangkyu Lee, Maria Thor, Barry S. Rosenstein, Allen Tannenbaum, Sarah Kerns, Joseph O. Deasy
Summary: This study used a machine learning-based modeling method to assess the risk of radiation-induced hematuria in prostate cancer patients using genome-wide common single nucleotide polymorphisms (SNPs). The results showed that this method can effectively stratify patients into high and low risk groups and identified key proteins and biological processes associated with the risk of hematuria.
RADIOTHERAPY AND ONCOLOGY
(2023)
Article
Oncology
Yumiko Kasugai, Tomohiro Kohmoto, Yukari Taniyama, Yuriko N. Koyanagi, Yoshiaki Usui, Madoka Iwase, Isao Oze, Rui Yamaguchi, Hidemi Ito, Issei Imoto, Keitaro Matsuo
Summary: This study aimed to comprehensively evaluate the association between germline pathogenic variants (GPVs) in breast cancer predisposition genes and breast cancer risk in Japanese women. The results showed that GPVs increase the risk of breast cancer in Japanese women regardless of environmental factors and genome-wide association study (GWAS)-identified single-nucleotide polymorphisms (SNPs).
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Article
Medicine, General & Internal
Wanwan Chen, Yanmei Liu, Hongyi Pan, Jie Jiang, Huaqing Xiang, Linlin Peng
Summary: The T allele at the rs2614 locus of the PTX3 gene may be a high risk factor for EHT, while the CCG haplotype may have a protective effect. Plasma levels of PTX3 and hsa-miR-4766-5p in patients with EHT have high diagnostic accuracy for EHT.
Article
Oncology
Kengo Kawada, Naruto Taira, Taeko Mizoo, Yoko Suzuki, Yukiko Kajiwara, Minami Hatono, Takahiro Tsukioki, Mariko Kochi, Yuko Abe, Keiko Nishiyama, Takayuki Iwamoto, Hirokuni Ikeda, Tadahiko Shien, Hiroyoshi Doihara, Setsuko Ishihara, Hiroshi Kawai, Kensuke Kawasaki, Yoichi Ishibe, Yutaka Ogasawara, Shinichi Toyooka
Summary: This study found that SNPs rs2046210 and rs3757318, which are associated with breast cancer risk in Japanese women, are significantly related to height and high breast density, especially in those with breast cancer.
Article
Endocrinology & Metabolism
Hong Tan, Sisi Wang, Feifei Huang, Zhongyi Tong
Summary: This study utilized a two-sample Mendelian randomization (MR) analysis to establish a causal link between ER-positive breast cancer and heightened risk of thyroid cancer. However, no direct correlation was found between triple-negative breast cancer and thyroid cancer.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Ziqi Jia, Yansong Huang, Jiaqi Liu, Gang Liu, Jiayi Li, Hengyi Xu, Yiwen Jiang, Song Zhang, Yidan Wang, Gang Chen, Guangdong Qiao, Yalun Li
Summary: Through a study on genetic polymorphisms, we found significant associations between breast cancer risk and SNPs rs12493607 (TGFBR2), rs4784227 (CASC16), and rs2046210 (ESR1) in the Chinese female population. Further analysis revealed associations between different subtypes of breast cancer and different SNPs. These findings provide important insights into breast cancer susceptibility and personalized treatment.
Article
Oncology
Siddhartha Yadav, Nicholas J. Boddicker, Jie Na, Eric C. Polley, Chunling Hu, Steven N. Hart, Rohan D. Gnanaolivu, Nicole Larson, Susan Holtegaard, Huaizhi Huang, Carolyn A. Dunn, Lauren R. Teras, Alpa V. Patel, James V. Lacey, Susan L. Neuhausen, Elena Martinez, Christopher Haiman, Fei Chen, Kathryn J. Ruddy, Janet E. Olson, Esther M. John, Allison W. Kurian, Dale P. Sandler, Katie M. O'Brien, Jack A. Taylor, Clarice R. Weinberg, Hoda Anton-Culver, Argyrios Ziogas, Gary Zirpoli, David E. Goldgar, Julie R. Palmer, Susan M. Domchek, Jeffrey N. Weitzel, Katherine L. Nathanson, Peter Kraft, Fergus J. Couch
Summary: The purpose of this study was to estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. The results showed that BRCA1, BRCA2, and CHEK2 PV carriers with breast cancer had significantly higher risks of CBC, while only PALB2 PV carriers with ER-negative breast cancer had elevated risks. However, ATM PV carriers did not have significantly increased CBC risks. The study suggests that women diagnosed with breast cancer and known to carry germline PVs in certain genes may benefit from enhanced surveillance and risk reduction strategies.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Genetics & Heredity
Peh Joo Ho, Alexis J. Khng, Hui Wen Loh, Weang-Kee Ho, Cheng Har Yip, Nur Aishah Mohd-Taib, Veronique Kiak Mien Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Ern Yu Tan, Swee Ho Lim, Suniza Jamaris, Yirong Sim, Fuh Yong Wong, Joanne Ngeow, Elaine Hsuen Lim, Mei Chee Tai, Eldarina Azfar Wijaya, Soo Chin Lee, Ching Wan Chan, Shaik Ahmad Buhari, Patrick M. Y. Chan, Juliana J. C. Chen, Jaime Chin Mui Seah, Wai Peng Lee, Chi Wei Mok, Geok Hoon Lim, Evan Woo, Sung-Won Kim, Jong Won Lee, Min Hyuk Lee, Sue K. Park, Alison M. Dunning, Douglas F. Easton, Marjanka K. Schmidt, Soo-Hwang Teo, Jingmei Li, Mikael Hartman
Summary: Rare protein-truncating variants are associated with more aggressive tumor characteristics in Asian breast cancer patients, while variants in other genes may impact the survival of these patients.
Article
Biochemistry & Molecular Biology
Shahad W. Kattan, Yahya H. Hobani, Sameerah Shaheen, Sara H. Mokhtar, Mohammad H. Hussein, Eman A. Toraih, Manal S. Fawzy, Hussein Abdelaziz Abdalla
Summary: The study found that CDKN2B-AS1 serum levels were upregulated in BC patients, and A/A genotype carriers were more likely to develop BC. G/G homozygous patients had higher expression levels and longer survival time. BC datasets also revealed better survival in patients with high expression levels.
CELLULAR & MOLECULAR BIOLOGY LETTERS
(2021)
Review
Biochemistry & Molecular Biology
Xiaoying Li, Qijun Wu, Baosen Zhou, Yashu Liu, Jiale Lv, Qing Chang, Yuhong Zhao
Summary: This study found that only 13 SNPs were strongly correlated with lung cancer risk based on systematic reviews and meta-analyses, providing valuable insights for further genetic studies.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Oncology
Kyle M. Walsh, Corey Neff, Melissa L. Bondy, Carol Kruchko, Jason T. Huse, Christopher Amos, Jill S. Barnholtz-Sloan, Quinn T. Ostrom
Summary: The incidence and outcomes of glioma differ in association with the geographic origins of Hispanic communities, with predominantly Mexican/Central American-origin counties at reduced risk and predominantly Caribbean-origin counties at greater risk. Higher incidence and improved survival are associated with European admixture in Hispanic patients.
Article
Oncology
Joshua D. Palmer, Rahul N. Prasad, Gino Cioffi, Carol Kruchtko, Nicholas G. Zaorsky, Daniel M. Trifiletti, Vinai Gondi, Paul D. Brown, Haley K. Perlow, Mark Mishra, Arnab Chakravarti, Jill S. Barnholtz-Sloan, Quinn T. Ostrom
Summary: This study suggests a potential association between exposure to high levels of particulate pollution and radon and increased incidence of non-malignant brain tumors. However, more research is needed to confirm these findings in other populations.
Article
Clinical Neurology
Kailey Takaoka, Gino Cioffi, Kristin A. Waiter, Jonathan L. Finlay, Daniel Landi, Kaitlyn Greppin, Carol Kruchko, Quinn T. Ostrom, Jill S. Barnholtz-Sloan
Summary: This study provides the latest epidemiological analysis of choroid plexus tumors in the US from 2004 to 2017, showing that choroid plexus papilloma is the most common subtype and the incidence is highest among young patients, while choroid plexus carcinoma has the lowest survival rate.
NEURO-ONCOLOGY PRACTICE
(2023)
Article
Clinical Neurology
Corey Neff, Gino Cioffi, Kristin Waite, Carol Kruchko, Jill S. Barnholtz-Sloan, Quinn T. Ostrom, J. Bryan Iorgulescu
Summary: This study investigated the testing and reporting completeness of a newly developed brain molecular marker (BMM) in the US. The overall completeness was 81.1%, with variations among different subgroups and hospital attributes.
NEURO-ONCOLOGY PRACTICE
(2023)
Letter
Immunology
Marie-Josephe Horner, Rohan Hazra, Jill S. Barnholtz-Sloan, Meredith S. Shiels, Eric A. Engels
Summary: In utero exposure to didanosine was associated with increased risk of brain cancer in a French study. We used United States health department records to assess cancer risk among 13,617 children exposed to HIV in utero, who remained HIV-uninfected after birth (1990-2017). Risk of brain tumors was borderline elevated among these children (standardized incidence ratio 2.2, 95% confidence interval 0.8-4.8, P=0.12, based on six cases). Risk was not significantly increased for leukemia or other cancers.
Editorial Material
Oncology
Jill S. Barnholtz-Sloan
Article
Multidisciplinary Sciences
Nickolas Stabellini, Jennifer Cullen, Lifen Cao, John Shanahan, Nelson Hamerschlak, Kristin Waite, Jill S. Barnholtz-Sloan, Alberto J. Montero
Summary: The study aimed to analyze the differences in treatment patterns and treatment related adverse events in Non-Hispanic women with breast cancer based on race. The results showed that Non-Hispanic Black women were less likely to undergo surgery or receive endocrine therapy, but more likely to receive radiotherapy. They also had a higher risk of cognitive decline/dementia after treatment.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Nickolas Stabellini, Benjamin Tomlinson, Jennifer Cullen, John Shanahan, Kristin Waite, Alberto J. J. Montero, Jill S. S. Barnholtz-Sloan, Nelson Hamerschlak
Summary: This study conducted a comprehensive analysis of sex differences in acute myeloid leukemia (AML) and found that there are disparities in incidence and survival between males and females. Treatment and healthcare factors have important implications for survival rates.
Article
Oncology
Robin Taylor Wilson, Susan E. Safford, Quinn T. Ostrom, Ming Wang, Alicia C. McDonald, Anna C. Salzberg, Jill S. Barnholtz-Sloan, John P. Richie
Summary: In this cross-sectional study, little is known regarding factors associated with calcitriol and the calcitriol-24,25-dihydroxyvitamin D3-calcifediol proportion ratio (C24CPR). The study found that calcitriol and C24CPR were both significantly, positively, and monotonically associated with West African genetic ancestry proportion (WGA). These findings suggest that C24CPR may be more suitable for personalized medicine.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Oncology
Marisa Thierheimer, Gino Cioffi, Kristin A. A. Waite, Carol Kruchko, Quinn T. T. Ostrom, Jill S. S. Barnholtz-Sloan
Summary: This study examined mortality trends for primary malignant brain and other central nervous system tumors in the United States. The overall mortality rate showed a slight increase from 2004 to 2018, with the highest increase observed in Asian/Pacific Islander or American Indian/Alaskan Native populations. Age-specific mortality rates varied among different histopathology groupings, with glioblastoma showing a small increase in adults > 65 years old and other malignant gliomas declining in the same age group. Examining these trends can provide important information for clinicians, researchers, and public health planning.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Oncology
Justin M. Barnes, Corey Neff, Xuesong Han, Carol Kruchko, Jill S. Barnholtz-Sloan, Quinn T. Ostrom, Kimberly J. Johnson
Summary: Medicaid expansion is associated with improved access to care in children with cancer and a 1.50 percentage point increase in 2-year overall survival after 2014 in expansion states compared to nonexpansion states. The impact is particularly significant for children living in the lowest county income quartile, with a 5.12 percentage point increase in survival.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
John R. Bihn, Gino Cioffi, Kristin A. Waite, Carol Kruchko, Corey Neff, Mackenzie Price, Quinn T. Ostrom, Kaitlin N. Swinnerton, Danne C. Elbers, Michael A. Mooney, Jacob Rachlin, Thor D. Stein, Mary T. Brophy, Nhan Do, Ryan E. Ferguson, David S. Priemer, Daniel P. Perl, Richard A. Hickman, Burt Nabors, Jennifer Rusiecki, Jill S. Barnholtz-Sloan, Nathanael R. Fillmore
Summary: This study provides comprehensive analysis of brain tumor incidence and survival in the Veteran population, revealing differences in comparison to the overall US population. Nonmalignant tumors are more common among Veterans, and survival outcomes worsen with age.
Article
Oncology
Kristin A. Waite, Peter J. Pronovost, Jill S. Barnholtz-Sloan
Summary: Trans-disciplinary science is crucial for understanding cancer development, progression, and treatment. Transitioning from an independent researcher to a leader or productive member of a scientific team requires focusing on key elements such as team selection, communication, leadership, shared goals, team responsibility, authorship, and conflict resolution.
Article
Clinical Neurology
Mackenzie Price, Katherine Ryan, Madison L. Shoaf, Corey Neff, J. Bryan Iorgulescu, Daniel B. Landi, Gino Cioffi, Kristin A. Waite, Carol Kruchko, Jill S. Barnholtz-Sloan, Quinn T. Ostrom
Summary: This report summarizes the latest population-based incidence, mortality, and survival data for primary brain and other CNS tumors in the US, aiming to serve as a concise resource for neuro-oncology providers.
NEURO-ONCOLOGY PRACTICE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Charit Tippareddy, Louisa Onyewadume, Andrew E. Sloan, Gi-Ming Wang, Nirav T. Patil, Siyuan Hu, Jill S. Barnholtz-Sloan, Rasim Boyacioglu, Vikas Gulani, Jeffrey Sunshine, Mark Griswold, Dan Ma, Chaitra Badve
Summary: This study aimed to test the feasibility of using 3D MRF maps with radiomics analysis and machine learning in the characterization of adult brain intra-axial neoplasms. The results showed that MRF maps were able to differentiate tumors based on type, grade, and IDH1 status. Furthermore, the radiomics features of MRF maps can also characterize gliomas based on grade, IDH1 status, and survival.
EUROPEAN RADIOLOGY
(2023)
