Article
Oncology
Ji Soo Park, Saeam Shin, Yoon Jung Lee, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Sun Hwa Lee, Tae Il Kim, Hyung Seok Park
Summary: The study evaluated the clinical implication of multigene panel testing in Korean patients with BRCA1/2 mutation-negative breast cancer. It found that multigene testing can identify additional pathogenic genes related to breast cancer management and has a positive impact on patients' psychological well-being and knowledge.
CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janatova
Summary: The frequency of germline pathogenic variants (PV) in patients with endometrial cancer (EC) was determined in this study. It was found that 11.4% of patients carried PV in genes that predispose to cancer, with 5.1% carrying Lynch syndrome (LS) gene mutations and 6.6% carrying hereditary breast and ovarian cancer (HBOC) gene mutations. Additionally, over 6% of patients carried mutations in clinically relevant genes.
Article
Pediatrics
Benjamin Carnahan, Eric W. Schaefer, Benjamin N. Fogel
Summary: Provider education led to a small increase in screening rates, while the implementation of POC testing resulted in a significant immediate and continued increase in screening rates at the site. POC testing may substantially increase blood lead level screening rates in 12- and 24-month well visits, indicating its potential benefits in other primary care settings.
JOURNAL OF PEDIATRICS
(2021)
Correction
Oncology
Jordan Lerner-Ellis, Chloe Mighton, Conxi Lazaro, Nicholas Watkins, Vanessa Di Gioacchino, Andrew Wong, Martin C. Chang, George S. Charames
Summary: The proportions for different ethnic categories in the article were mistakenly reversed and need to be corrected to the accurate values.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2021)
Article
Oncology
Jordan Lerner-Ellis, Chloe Mighton, Conxi Lazaro, Nicholas Watkins, Vanessa Di Gioacchino, Andrew Wong, Martin C. Chang, George S. Charames
Summary: The aim of this study was to determine the diagnostic yield of multigene panel testing in patients referred with hereditary breast and ovarian cancer (HBOC). 3251 cases were included in the analysis, with 9.1% having a positive result and 27.1% having an inconclusive result. The genes with the highest prevalence of positive results were in BRCA2, BRCA1, and CHEK2, and some positive cases had a pathogenic variant in genes associated with Lynch syndrome.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2021)
Article
Gastroenterology & Hepatology
Huili Zhu, Sara Welinsky, Emily R. Soper, Karen L. Brown, Noura S. Abul-Husn, Aimee L. Lucas
Summary: The study aimed to investigate the prevalence of pathogenic germline variants in patients with a family history of pancreatic cancer. Results showed the presence of both PGVs and VUS in the individuals, with some meeting criteria for pancreatic cancer screening and surveillance.
Article
Oncology
Sushma Tatineni, Meri Tarockoff, Nadine Abdallah, Kristen S. Purrington, Hadeel Assad, Rachel Reagle, Nancie Petrucelli, Michael S. Simon
Summary: This study evaluated the results of multigene panel testing among individuals at high risk for hereditary cancer in Michigan. The findings showed that African Americans and Arabs were more likely to have variants of uncertain significance, while non-Hispanic white individuals were more likely to have pathogenic variants.
Article
Genetics & Heredity
Sharon E. Johnatty, Tina Pesaran, Jill Dolinsky, Amal Yussuf, Holly LaDuca, Paul A. James, Tracy A. O'Mara, Amanda B. Spurdle
Summary: Hereditary endometrial cancer is commonly associated with pathogenic variants in mismatch repair genes, but additional genetic risk factors may also play a role, especially in cases with previous cancer diagnoses or family histories. Variants in MLH1, MSH2, and PMS2 were enriched in EC cases with a history of Lynch cancer, while variants in BRCA1 and PALB2 were more frequent in EC patients with prior breast cancer and a family history of EC. Strategic case-case analyses have provided insights for future studies on candidate hereditary EC genes.
Article
Biology
Airat Bilyalov, Sergey Nikolaev, Leila Shigapova, Igor Khatkov, Anastasia Danishevich, Ludmila Zhukova, Sergei Smolin, Marina Titova, Tatyana Lisica, Natalia Bodunova, Elena Shagimardanova, Oleg Gusev
Summary: Hereditary cancer predisposition syndromes (HCPS) caused by mutations of a single gene account for 5-10% of all cancer cases. Next-generation sequencing (NGS) based multigene panel testing is considered a major approach for identifying clinically significant variants in high-risk individuals. This study evaluated the landscape of HCPS-associated genetic variants in Russian individuals with personal and/or family history of cancer.
Review
Genetics & Heredity
Felicia Adam, Muriel Fluri, Amina Scherz, Manuela Rabaglio
Summary: The implementation of multigene panels for hereditary tumor syndrome has been increasing. This study aimed to determine the prevalence of VUS in patients with suspected Lynch syndrome and hereditary breast and ovarian cancer syndrome. The data showed that panel testing significantly increases VUS rates in non-BRCA genes.
BMC MEDICAL GENOMICS
(2023)
Article
Oncology
Izzet Mehmet Akcay, Elifnaz Celik, Nihat Bugra Agaoglu, Gizem Alkurt, Tugba Kizilboga Akgun, Jale Yildiz, Feruze Enc, Gozde Kir, Sezin Canbek, Ali Kilic, Ebru Zemheri, Fikret Ezberci, Melike Ozcelik, Gizem Dinler Doganay, Levent Doganay
Summary: In this study, pathogenic variants in 25 cancer susceptibility genes in Turkish BC and CRC patients were profiled, revealing that 17.2% of high-risk BC patients and 26.4% of high-risk CRC patients carried pathogenic variants. The majority of these variants were clinically actionable. BRCA1/2 and MLH1, MSH2, MSH6 genes accounted for two-thirds of the detected pathogenic variants in high-risk patients.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Review
Obstetrics & Gynecology
Erica L. Silver, Mariana Niell-Swiller
Summary: This article demonstrates why multigene panel testing (MGPT) is the superior option for hereditary cancer genetic testing. By outlining the clinical benefits and possible limitations of MGPT, the article shows that MGPT can better identify individuals with hereditary cancer syndromes and improve the uptake of cascade testing.
CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Meghan Underhill-Blazey, Traci Blonquist, Anu Chittenden, Rachel Pozzar, Manan Nayak, Kristina Lansang, Fangxin Hong, Judy Garber, Jill E. Stopfer
Summary: The study describes the patient-reported experiences and recommendations to improve the genetic counseling and multigene panel testing process. Most participants reported satisfaction with the process. The study found that factors such as age, marital status, education level, type of cancer diagnosis, and genetic testing results were significantly associated with satisfaction levels.
JOURNAL OF GENETIC COUNSELING
(2021)
Article
Medicine, General & Internal
Marcella Nunziato, Federica Di Maggio, Matilde Pensabene, Maria Valeria Esposito, Flavio Starnone, Carmine De Angelis, Alessandra Calabrese, Massimiliano D'Aiuto, Gerardo Botti, Sabino De Placido, Valeria D'Argenio, Francesco Salvatore
Summary: Breast cancer, especially the hereditary/familial form, is associated with DNA variants in cancer-predisposing genes such as BRCA1/BRCA2. However, these variants only explain a portion of the cases. Researchers have developed a custom panel of 44 genes, using NGS techniques, to improve diagnostic sensitivity. A study conducted in Southern Italy found pathogenic variants in 19% of the tested patients, with MUTYH gene being the most frequently altered. These findings highlight the importance of expanding molecular testing beyond BRCA genes and may guide precision oncology therapy.
FRONTIERS IN MEDICINE
(2022)
Article
Oncology
Brandie Heald, Sara Mokhtary, Sarah M. Nielsen, Susan Rojahn, Shan Yang, Scott T. Michalski, Edward D. Esplin
Summary: This study assessed the prevalence and clinical impact of pathogenic germline variants (PGVs) in hereditary uterine cancer patients. The results indicate that focusing on Lynch syndrome genes and PTEN and limiting testing to patients under 50 years old may overlook a significant proportion of patients with actionable PGVs.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Public, Environmental & Occupational Health
Bradley N. Collins, Stephen J. Lepore, Brian L. Egleston
Summary: This study tested the effectiveness of a multilevel intervention on improving smoking cessation rates and reducing child tobacco smoke exposure among low-income maternal smokers. The results showed significantly higher abstinence rates in the intervention group, but no group difference in child cotinine levels. This intervention model can help address tobacco-related issues in low-income communities.
AMERICAN JOURNAL OF PUBLIC HEALTH
(2022)
Article
Psychology, Clinical
Chantelle N. Hart, Andrea M. Spaeth, Brian L. Egleston, Mary A. Carskadon, Hollie A. Raynor, Elissa Jelalian, Judith A. Owens, Robert Considine, Rena R. Wing
Summary: Short sleep is associated with an increased risk of obesity, and this study found that reducing sleep duration in children led to higher caloric intake from sugar-sweetened beverages, particularly in the evening.
Article
Surgery
Nicholas A. Elmer, Sthefano Araya, Juliet Panichella, Brian Egleston, Mengying Deng, Sameer A. Patel
Summary: This study aimed to understand the temporal pattern and risk factors associated with lower extremity free flap failure. It found a reoperation rate of 14.5% within the first 30 postoperative days, with patients with vascular indications having the highest rate. The rate of reoperation was highest during the first 2 days postoperative and significantly decreased afterwards. African American race, malignant tumors, prosthetic/implant complications, and wound/infectious indications were significant predictors for reoperation.
ANNALS OF PLASTIC SURGERY
(2023)
Letter
Oncology
Benjamin G. Carlisle, Donna L. Coffman, Brian L. Egleston, Maia Salholz-Hillel
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Psychology, Clinical
Bradley N. Collins, Stephen J. Lepore, Brian L. Egleston
Summary: This study aimed to examine the effectiveness of the BLiSS multilevel intervention in promoting smoking cessation among low-income maternal smokers and its impact on smoking relapse rates over a 12-month period. The results showed that mothers who received the intervention were more likely to eliminate their children's tobacco smoke exposure within three months, which was significantly associated with long-term smoking abstinence.
JOURNAL OF BEHAVIORAL MEDICINE
(2023)
Article
Oncology
Brian L. Egleston, Richard J. Bleicher, Carolyn Y. Fang, Thomas J. Galloway, Slobodan Vucetic
Summary: Additional evaluations and second opinions before breast cancer surgery may improve care, but could cause detrimental delays. This study investigates the timing of surgical delays associated with survival benefits and potential harm. It found that quick new patient visits have a protective association with breast cancer mortality, but substantial delays may increase mortality in older patients. Similarly, delays in medical oncologist and surgeon visits can also have negative impacts on outcomes.
Article
Surgery
Sthefano Araya, Theresa K. K. Webster, Brian Egleston, Grace M. M. Amadio, Juliet C. C. Panichella, Nicholas A. A. Elmer, Sameer A. A. Patel
Summary: This study reviewed the impact of ERAS implementation on the length of stay (LOS) in patients undergoing DIEP free-flap breast reconstruction. The results showed that the implementation of ERAS protocols led to a significant decrease in LOS and supported safe discharge on postoperative days 2-3.
ANNALS OF PLASTIC SURGERY
(2023)
Article
Oncology
Madison Kilbride, Brian L. Egleston, Wendy K. Chung, Olufunmilayo Olopade, Kara N. Maxwell, Payal Shah, Jane E. Churpek, Linda Fleisher, Mary Beth Terry, Dominique Fetzer, Jill Bennett Gaieski, Jessica Bulafka, Aileen Espinal, Kelsey Karpink, Sarah Walser, Davone Singleton, Monica Palese, Ilona Siljander, Amanda Brandt, Dana Clark, Carrie Koval, Julia Wynn, Jessica M. Long, Danielle Mckenna, Jacquelyn Powers, Sarah Nielsen, Susan M. Domchek, Katherine L. Nathanson, Angela R. Bradbury
Summary: The study showed high interest in web-based predisclosure education for returning genetic research results, but it did not increase the uptake of results. There were no negative patient-reported outcomes with web education, indicating that it is a viable alternative delivery model for reducing burdens and costs of returning genetic research results.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Amy H. Auchincloss, Francesca Mucciaccio, Carolyn Y. Fang, Dominic A. Ruggiero, Jana A. Hirsch, Julia Zhong, Minzi Li, Brian L. Egleston, Marilyn Tseng
Summary: This study examined the relationship between neighborhood social composition, gentrification, and acculturation stress among first-generation Chinese immigrants. The findings showed that Chinese immigrants living in neighborhoods with a higher proportion of Chinese immigrants and higher wealth experienced lower acculturation stress, while gentrification had no impact.
SSM-POPULATION HEALTH
(2023)
Article
Health Care Sciences & Services
Margaret L. Longacre, Marcin Chwistek, Cynthia Keleher, Mark Siemon, Brian L. Egleston, Molly Collins, Carolyn Y. Fang
Summary: The study demonstrates the usability and satisfaction of a patient-caregiver portal system in engaging caregivers systematically. The system allows patients to specify their caregiver and communication preferences, connects caregivers to a unique portal page, and provides electronic notifications to the care team. The findings highlight the need for further research on caregivers of patients with different illnesses.
JMIR HUMAN FACTORS
(2023)
Meeting Abstract
Oncology
Mary Daly, Brian Egleston, Kaitlyn Lew, Lisa Bealin, Alexander Husband, Jill Stopfe, Pawel Przybysz, Olga Tchuvatkina, Yu-Ning Wong, Judy Garber, Timothy Rebbeck
Meeting Abstract
Oncology
Brian Egleston, Mary Daly, Kaitlyn Lew, Lisa Bealin, Alexander Husband, Jill Stopfer, Pawel Przybysz, Olga Tchuvatkina, Yu-Ning Wong, Judy Garber, Timothy Rebbeck
Article
Social Sciences, Mathematical Methods
Brian L. Egleston, Ashis Kumar Chanda, Tian Bai, Carolyn Y. Fang, Richard J. Bleicher, Slobodan Vucetic
Summary: Identification of procedures using medical codes for medical claims research is challenging. Pointwise Mutual Information can be used to find associated codes. In a study on racial differences in breast cancer outcomes, treatment definitions were identified using the Pointwise Mutual Information statistic. The study found that survival disparities between Black and White women were completely eliminated with augmented treatment definitions.
METHODOLOGY-EUROPEAN JOURNAL OF RESEARCH METHODS FOR THE BEHAVIORAL AND SOCIAL SCIENCES
(2023)
Meeting Abstract
Oncology
Marilyn Tseng, Brian Egleston, Julia Zhong, Minzi Li, Carolyn Fang
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Meeting Abstract
Oncology
Ella Batterson, Marilyn Tseng, Emily C. Walton, Brian Egleston, Julia Zhong, Minzi Li, Carolyn Fang
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)