Article
Biochemistry & Molecular Biology
Laszlo Madar, Viktoria Majoros, Zsuzsanna Szucs, Orsolya Nagy, Tamas Babicz, Henriett Butz, Attila Patocs, Istvan Balogh, Katalin Koczok
Summary: Here, we present a case of a female patient carrying double heterozygous mutations in the BRCA1 and BRCA2 genes, who was diagnosed with breast cancer. Genetic testing revealed two pathogenic variants in the BRCA1 gene (c.5095C>T, p.(Arg1699Trp)) and one pathogenic variant in the BRCA2 gene (c.658_659delGT, p.(Val220Ilefs*4)). These rare deleterious mutations are not commonly found in the Jewish population and have not been previously reported in double heterozygous patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Yoon Ju Bang, Won Kyung Kwon, Seok Jin Nam, Seok Won Kim, Byung-Joo Chae, Se Kyung Lee, Jai Min Ryu, Jong-Won Kim, Jonghan Yu, Jeong Eon Lee
Summary: This article presents seven cases of double heterozygosity (DH) for BRCA1/2 identified in a Korean institution, and compares the characteristics and phenotype of DH individuals with those carrying a single BRCA variant. The study found that DH patients develop breast cancer at a younger age and are more likely to have triple-negative breast cancer and higher grade cancers compared to patients with a single BRCA2 variant. These findings have important implications for the early diagnosis and treatment of breast cancer.
CANCER RESEARCH AND TREATMENT
(2022)
Article
Biochemistry & Molecular Biology
Imane Saif, Amal Bouziyane, Mustapha Benhessou, Mohamed El Karroumi, Moulay Mustapha Ennaji
Summary: The study found that 62% of the samples from Moroccan women with breast cancer had methylated BRCA1, while BRCA2 was negative, with these epigenetic factors being significant in women over 47 years old and at the malignant tumor stage. Age might be an additional factor for breast cancer development, as confirmed by the results.
MOLECULAR BIOLOGY REPORTS
(2021)
Article
Oncology
Giovanna Barbero, Roberta Zuntini, Pamela Magini, Laura Desiderio, Michela Bonaguro, Anna Myriam Perrone, Daniela Rubino, Mina Grippa, Antonio De Leo, Claudio Ceccarelli, Lea Godino, Sara Miccoli, Simona Ferrari, Donatella Santini, Pierandrea De Iaco, Claudio Zamagni, Giovanni Innella, Daniela Turchetti
Summary: Ovarian cancer is a highly lethal malignancy and genetic defects, including BRCA1 and BRCA2 alterations, are common in patients. A comprehensive study of 30 ovarian cancer patients revealed that 23% had BRCA alterations detectable by clinical testing, while 17% showed epigenetic silencing of BRCA1 in the tumor. Patients with BRCA deficit had greater genomic instability but better survival compared to those without BRCA deficit.
Article
Biochemical Research Methods
Oleksii Nikolaienko, Per Eystein Lonning, Stian Knappskog
Summary: With recent advances in the field of epigenetics, there is a growing focus on rare transmitted constitutional epimutations. The research team developed a method called ramr to identify aberrantly methylated DNA regions and confirmed its applicability for cancer risk analysis.
Article
Oncology
Per E. Lonning, Oleksii Nikolaienko, Kathy Pan, Allison W. Kurian, Hans P. Eikesdal, Mary Pettinger, Garnet L. Anderson, Ross L. Prentice, Rowan T. Chlebowski, Stian Knappskog
Summary: This study found a significant association between constitutional normal tissue BRCA1 promoter methylation and the risk of developing triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSOC).
Article
Multidisciplinary Sciences
Filip Machaj, Katarzyna Ewa Sokolowska, Konrad Borowski, Szymon Retfinski, Dominik Strapagiel, Marta Sobalska-Kwapis, Tomasz Huzarski, Jan Lubinski, Tomasz Kazimierz Wojdacz
Summary: PCR-based MS-HRM is effective in detecting low-level BRCA1 methylation in DNA extracted from blood, while EPIC microarray does not provide conclusive results for the presence of BRCA1 constitutional methylation in MS-HRM epimutation positive samples. Assessing the sensitivity of different techniques in detecting constitutional methylation in blood samples is crucial for cancer prediction research.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Joanne Kotsopoulos, Shana J. Kim, Susan Armel, Louise Bordeleau, William D. Foulkes, Wendy McKinnon, Seema Panchal, Stephanie A. Cohen, Sophie Sun, Ping Sun, Larissa McKetton, Angela K. Troyer, Steven A. Narod
Summary: The study evaluated the impact of surgical, hormonal, and lifestyle factors on memory and attention in women with BRCA mutations. Results showed that women with preventive surgeries had higher cognitive assessment scores, reassuring high-risk women. However, further studies are needed to assess cognitive function over time as memory deficits become more prevalent.
Article
Oncology
Noor Muhammad, Ayesha Azeem, Muhammad Abu Bakar, Karolina Prajzendanc, Asif Loya, Anna Jakubowska, Ute Hamann, Muhammad Usman Rashid
Summary: Constitutional BRCA1 promoter methylation is associated with TNBC and can serve as a non-invasive blood-based biomarker for Pakistani TNBC patients.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Pathology
Nora Sahnane, Daniela Rivera, Laura Libera, Ileana Carnevali, Barbara Banelli, Sofia Facchi, Viviana Gismondi, Michele Paudice, Gabriella Cirmena, Valerio G. Vellone, Fausto Sessa, Liliana Varesco, Maria G. Tibiletti
Summary: This study found that BRCA1 promoter methylation might be a better determinant of therapy response and developed a simple and convenient assay for measurement. It has potential to be applied in clinical practice.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2023)
Article
Pathology
Carla B. Ripamonti, Paolo Bossi, Siranoush Manoukian, Laura Locati, Mara Colombo, Maria L. Carcangiu, Andrea Vingiani, Lisa Licitra, Paolo Radice
Summary: This study found that some patients with SGCs in high-risk breast cancer families may have genetic factors associated with breast cancer susceptibility.
Article
Oncology
Pascal Pujol, Kevin Yauy, Amandine Coffy, Nicolas Duforet-Frebourg, Sana Gabteni, Jean-Pierre Daures, Frederique Penault Llorca, Frederic Thomas, Kevin Hughes, Clare Turnbull, Virginie Galibert, Chloe Rideau, Carole Corsini, Laetitia Collet, Benoit You, David Genevieve, Nicolas Philippe
Summary: The meta-analysis revealed a higher prevalence of gBRCA2 in unselected breast cancer patients. Additionally, the majority of tumors in breast cancer patients with gBRCA are estrogen receptor-positive.
Article
Oncology
Hyeong In Ha, Eun Young Park, Kyung Jin Eoh, Yeon Jee Lee, Sang-Soo Seo, Sokbom Kang, Sang-Yoon Park, Myong Cheol Lim
Summary: This study investigated the clinical significance of the ovarian cancer cluster region (OCCR) in BRCA1 and BRCA2 genes. The results showed that patients with BRCA1 pathogenic variants (PVs) in the OCCR region had shorter progression-free survival (PFS) compared to those outside the OCCR. This trend was more pronounced in the platinum-sensitive subgroup. However, no significant differences were found in overall survival (OS) between patients with BRCA1/2 PVs, regardless of the variant location.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Chen Nahshon, Yakir Segev, Meirav Schmidt, Ofer Lavie
Summary: This study examines the attitudes of BRCA1/2 mutation carriers towards surgical risk reduction procedures. The results show high performance rates for risk reduction bilateral salpingo-oophorectomy, though hysterectomy was added in only 10% of cases. Additionally, only 33% of patients opted for risk reduction mastectomy, despite high awareness and acceptance rates. These findings provide important insights for clinicians counseling BRCA1/2 mutation carriers and highlight the need for personalized management plans.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Review
Oncology
G. Tomasello, D. Gambini, F. Petrelli, J. Azzollini, C. Arcana, M. Ghidini, B. Peissel, S. Manoukian, O. Garrone
Summary: The prevalence of HER2 positivity in breast cancers among BRCA1/2 mutation carriers is relatively low, with variation between BRCA1 and BRCA2 carriers. Further research is needed to better characterize this subgroup of patients and understand the HER2 expression in BRCA mutation carriers.
Letter
Cardiac & Cardiovascular Systems
Andrew D. Spearman, Salil Ginde
CARDIOLOGY IN THE YOUNG
(2020)
Article
Public, Environmental & Occupational Health
Tamara S. Reynolds, Courtney D. Lynch, Erinn M. Hade, Dawn C. Allain, Judith A. Westman, Amanda E. Toland
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Andrew D. Spearman, Salil Ginde, Benjamin H. Goot, Amy M. Schaal, Mingen Feng, Amy Y. Pan, Michele A. Frommelt, Peter C. Frommelt
PEDIATRIC CARDIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Andrew D. Spearman, Ankan Gupta, Amy Y. Pan, Emily I. Gronseth, Karthikeyan Thirugnanam, Todd M. Gudausky, Susan R. Foerster, Ramani Ramchandran
SEMINARS IN THORACIC AND CARDIOVASCULAR SURGERY
(2020)
Editorial Material
Dermatology
A. E. Toland
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Article
Genetics & Heredity
Yue Zhang, Jung-Young Park, Fan Zhang, Sara H. Olson, Irene Orlow, Yirong Li, Robert C. Kurtz, Marc Ladanyi, Jie Chen, Amanda E. Toland, Liying Zhang, Paul R. Andreassen
Summary: This study identified two novel PALB2 missense variants that impacted DNA damage responses, leading to defective PALB2 and RAD51 recruitment to DNA damage foci and compromised homologous recombination. These variants also increased cellular sensitivity to ionizing radiation and PARP inhibitor, suggesting personalized treatment possibilities for cancers carrying deleterious PALB2 variants.
Article
Cardiac & Cardiovascular Systems
Hannah Van Galder, Amy M. Schaal, Mingen Feng, Amy Y. Pan, Michele A. Frommelt, Salil Ginde, Andrew D. Spearman
Summary: This retrospective study analyzed patients with single ventricle congenital heart disease and Fontan palliation, showing that patients with heterotaxy and interrupted inferior caval vein were more likely to be diagnosed with pulmonary arteriovenous malformations pre-Fontan. However, all patient groups showed increased oxygen saturations in the first year after Fontan discharge.
CARDIOLOGY IN THE YOUNG
(2021)
Article
Medicine, Research & Experimental
Ankan Gupta, Karthikeyan Thirugnanam, Madhan Thamilarasan, Ashraf M. Mohieldin, Hadeel T. Zedan, Shubhangi Prabhudesai, Meghan R. Griffin, Andrew D. Spearman, Amy Pan, Sean P. Palecek, Huseyin C. Yalcin, Surya M. Nauli, Kevin R. Rarick, Rahima Zennadi, Ramani Ramchandran
Summary: The loss of cilia on the surface of endothelial cells may be caused by shear stress, and circulating ciliary proteins may serve as biomarkers for damaged endothelium.
Article
Cardiac & Cardiovascular Systems
Brandon J. Calley, Liyun Zhang, Amy Y. Pan, Salil Ginde, Steven J. Kindel, Andrew D. Spearman
Summary: Patients with single ventricle CHD have significant morbidity and healthcare utilisation. Respiratory viral infections are prevalent but uncomplicated in these patients. There are potential differences in viral-related presentations and admissions between Glenn and Fontan circulation, but the rate of mechanical ventilation and hospital length of stay is similar.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Cardiac & Cardiovascular Systems
David E. Segar, Amy Y. Pan, Daniel McLennan, Steven J. Kindel, Stephanie S. Handler, Salil Ginde, Ronald K. Woods, Benjamin H. Goot, Andrew D. Spearman
Summary: Aortopulmonary collaterals (APCs) develop universally but to varying degrees in patients with single ventricle congenital heart disease. Pulmonary artery size is associated with APC flow and plays a key role in determining APC burden. Further research is necessary to understand the pathogenesis of APCs.
PEDIATRIC CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Monica Merbach, Ramani Ramchandran, Andrew D. Spearman
Summary: Pulmonary arteriovenous malformations (PAVMs) are common in patients with univentricular congenital heart disease and may be caused by a lack of an unidentified factor from hepatocytes. Recent research suggests that soluble vascular endothelial growth factor receptor 1 (sVEGFR1) could be a potential candidate for this factor. However, more research is needed to determine the identity and origin of the hepatic factor.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Oncology
Leigha Senter, Deloris Veney, Taylor Surplus, Marcy Haynam, Elizabeth J. Adams, Heather Hampel, Amanda E. Toland, Carolyn J. Presley, Tasleem J. Padamsee, Clara N. Lee, Shelly R. Hovick, Daniel G. Stover
Summary: Tumor genomic testing (TGT) is an important part of cancer care, but many patients have limited understanding of genomics and are not informed about potential incidental germline findings. A PDSA approach is being used to assess and improve patient education before TGT, including reviewing guidelines, conducting focus groups and interviews, and creating a patient-directed animated video.
JCO ONCOLOGY PRACTICE
(2023)
Review
Pharmacology & Pharmacy
Wolfgang Sadee, Danxin Wang, Katherine Hartmann, Amanda Ewart Toland
Summary: Personalized medicine tailors therapies, disease prevention, and health maintenance to the individual using pharmacogenomics as a key tool. Genomics advances have transformed pharmacogenetics into pharmacogenomics, encompassing all -omics fields. This review summarizes the principles of genomics relevant to personalized medicine and discusses the clinical relevance of genetic variations in pharmacogenes. The impact and challenges of pharmacogenomics on clinical care, ethics, economics, and regulations are also addressed.
PHARMACOLOGICAL REVIEWS
(2023)
Editorial Material
Dermatology
Amanda E. Toland
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Andrew D. Spearman, Salil Ginde
Summary: This review discusses the pulmonary vascular sequelae in patients with single ventricle congenital heart disease during surgical palliation. Pulmonary arteriovenous malformations and aortopulmonary collaterals are common complications. The review also highlights the need for further research in diagnostic testing and pathophysiology.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)