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Breast cancer genetic tests

Verónica Castillo-Guardiola, M Desamparados Sarabia-Meseguer, Miguel Marín-Vera, Ana Isabel Sánchez-Bermúdez, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espejo
Li-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who had a non-informative result after BRCA1 and BRCA2 testing. After extending the study through multigene panel testing, two clinically relevant variants in the TP53 and BRIP1 genes, respectively, were found. Afterwards, the patient developed a glioblastoma. Both tumours were consistent with Li-Fraumeni syndrome...
December 2018: Cancer Genetics
Zahi I Mitri, Swapnil Parmar, Brett Johnson, Annette Kolodzie, Jamie M Keck, Max Morris, Alexander R Guimaraes, Brooke R Beckett, Uma Borate, Charles D Lopez, Kathleen A Kemmer, Joshi J Alumkal, Tomasz M Beer, Christopher L Corless, Gordon B Mills, Joe W Gray, Raymond C Bergan
BACKGROUND: In order to establish the workflows required to implement a real-time process involving multi-omic analysis of patient samples to support precision-guided therapeutic intervention, a tissue acquisition and analysis trial was implemented. This report describes our findings to date, including the frequency with which mutational testing led to precision-guided therapy and outcome for those patients. METHODS: Eligible patients presenting to Oregon Health and Science University Knight Cancer Institute were enrolled on the study...
December 14, 2018: Journal of Translational Medicine
Bradley Downs, Simon Sherman, Jian Cui, Yeong C Kim, Carrie Snyder, Maria Christensen, Jiangtao Luo, Henry Lynch, San Ming Wang
PURPOSE: The presence of pathogenic germline mutation in BRCA1 gene is considered as the most penetrant genetic predisposition for breast cancer. However, a portion of BRCA1 mutation carriers never develops breast cancer throughout their lifetime. This phenomenon is called incomplete penetrance. Genetic factor is proposed to contribute to this phenomenon, but the details regarding the genetic factor remain elusive. BRCA1 mutations were inherited from the ancestors of the mutation carrier families during human evolution, and their presence is a consistent threat to the survival of the mutation carrier population...
December 11, 2018: European Journal of Cancer
Mavis Machirori, Christine Patch, Alison Metcalfe
Within the field of breast cancer care, women concerned about their family history are offered genetic testing and subsequent treatment options based on several factors which include but are not limited to personal and family cancer disease histories and clinical guidelines. Discussions around decision-making in genetics in Black and Minority Ethnic (BME) groups are rarely documented in literature, and information regarding interactions with genetics services is usually discussed and linked to lack of scientific knowledge...
December 11, 2018: European Journal of Medical Genetics
Iman Aftab Khan, Byong Hoon Yoo, Michael McPhee, Olivier Masson, Alexi Surette, Kelly Dakin-Hache, Tallal Younis, Gillian Bethune, Kirill V Rosen
BACKGROUND: The ability of solid tumor cells to resist anoikis, apoptosis triggered by cell detachment from the extracellular matrix (ECM), is thought to be critical for 3D tumor growth. ErbB2/Her2 oncoprotein is often overproduced by breast tumor cells and blocks their anoikis by partially understood mechanisms. In our effort to understand them better, we observed that detachment of nonmalignant human breast epithelial cells from the ECM upregulates the transcription factor Irf6. Irf6 is thought to play an important role in mammary gland homeostasis and causes apoptosis by unknown mechanisms...
December 13, 2018: Breast Cancer Research: BCR
Viktor Hlavac, Maria Kovacova, Katerina Elsnerova, Veronika Brynychova, Renata Kozevnikovova, Karel Raus, Katerina Kopeckova, Sona Mestakova, David Vrana, Jiri Gatek, Pavel Ostasov, Radka Vaclavikova, Pavel Soucek
The aim of our study was to set up a panel for targeted sequencing of chemoresistance genes and the main transcription factors driving their expression and to evaluate their predictive and prognostic value in breast cancer patients. Coding and regulatory regions of 509 genes, selected from PharmGKB and Phenopedia, were sequenced using massive parallel sequencing in blood DNA from 105 breast cancer patients in the testing phase. In total, 18,245 variants were identified of which 2565 were novel variants (without rs number in dbSNP build 150) in the testing phase...
December 12, 2018: Cancers
Jinling Liao, Jie Li, Hong Cheng, Yang Chen, Zengnan Mo
Breast cancer is one of the most widespread malignancies in females, and the incidence rate has been increasing in recent years in the world. Genetic factors play an important role in the occurrence of breast cancer. Our study aimed to investigate the relationship between single nucleotide polymorphisms (SNPs) of claudin 10 (CLDN10) (rs1325774, rs7333503, rs3751334) and breast cancer and the clinical characteristics of patients.A total of 104 patients with breast cancer and 118 healthy controls were recruited in our study between 2013 and 2015...
December 2018: Medicine (Baltimore)
Naomi Walsh, Han Zhang, Paula L Hyland, Qi Yang, Evelina Mocci, Mingfeng Zhang, Erica J Childs, Irene Collins, Zhaoming Wang, Alan A Arslan, Laura Beane-Freeman, Paige M Bracci, Paul Brennan, Federico Canzian, Eric J Duell, Steven Gallinger, Graham G Giles, Michael Goggins, Gary E Goodman, Phyllis J Goodman, Rayjean J Hung, Charles Kooperberg, Robert C Kurtz, Núria Malats, Loic LeMarchand, Rachel E Neale, Sara H Olson, Ghislaine Scelo, Xiao O Shu, Stephen K Van Den Eeden, Kala Visvanathan, Emily White, Wei Zheng, Demetrius Albanes, Gabriella Andreotti, Ana Babic, William R Bamlet, Sonja I Berndt, Ayelet Borgida, Marie-Christine Boutron-Ruault, Lauren Brais, Paul Brennan, Bas Bueno-de-Mesquita, Julie Buring, Kari G Chaffee, Stephen Chanock, Sean Cleary, Michelle Cotterchio, Lenka Foretova, Charles Fuchs, J Michael M Gaziano, Edward Giovannucci, Michael Goggins, Thilo Hackert, Christopher Haiman, Patricia Hartge, Manal Hasan, Kathy J Helzlsouer, Joseph Herman, Ivana Holcatova, Elizabeth A Holly, Robert Hoover, Rayjean J Hung, Vladimir Janout, Eric A Klein, Robert C Kurtz, Daniel Laheru, I-Min Lee, Lingeng Lu, Núria Malats, Satu Mannisto, Roger L Milne, Ann L Oberg, Irene Orlow, Alpa V Patel, Ulrike Peters, Miquel Porta, Francisco X Real, Nathaniel Rothman, Howard D Sesso, Gianluca Severi, Debra Silverman, Oliver Strobel, Malin Sund, Mark D Thornquist, Geoffrey S Tobias, Jean Wactawski-Wende, Nick Wareham, Elisabete Weiderpass, Nicolas Wentzensen, William Wheeler, Herbert Yu, Anne Zeleniuch-Jacquotte, Peter Kraft, Donghui Li, Eric J Jacobs, Gloria M Petersen, Brian M Wolpin, Harvey A Risch, Laufey T Amundadottir, Kai Yu, Alison P Klein, Rachael Z Stolzenberg-Solomon
Background: Genome-wide association studies (GWAS) identify associations of individual single-nucleotide polymorphisms (SNPs) with cancer risk but usually only explain a fraction of the inherited variability. Pathway analysis of genetic variants is a powerful tool to identify networks of susceptibility genes. Methods: We conducted a large agnostic pathway-based meta-analysis of GWAS data using the summary-based adaptive rank truncated product method to identify gene sets and pathways associated with pancreatic ductal adenocarcinoma (PDAC) in 9040 cases and 12 496 controls...
December 12, 2018: Journal of the National Cancer Institute
Manish Sahni, Ashish Goel, Pankaj Pande, Kapil Kumar
Multiple gastrointestinal cancers in a single patient is a rare entity. In our study, we are showing the clinical presentation and management of these patients. A fifty-nine-year-old asthenic male (already treated case of metachronous colorectal cancer in 2008 and 2011) presented with complaints of generalized weakness and fatigue. Strong family history was present with two of his first-degree relatives having diagnosed with gastrointestinal cancer at the age < 50 years with one of them having stomach carcinoma and another with GEJ tumors...
December 2018: Indian Journal of Surgical Oncology
Anne L Ersig, Allison Werner-Lin, Lindsey Hoskins, Jennifer Young, Jennifer T Loud, June Peters, Mark H Greene
In families with hereditary breast/ovarian cancer, complex disease histories challenge established patterns of family communication and influence decision-making for clinical surveillance, genetic testing, and risk management. An interdisciplinary team examined longitudinal interview data from women with identified BRCA1/2 mutations to assess interactions within family and social networks about risk information communication and management. We used interpretive description to identify motivation, content, and derived benefit of these interactions...
December 12, 2018: Journal of Family Nursing
Madara Ratnadiwakara, Melissa Rooke, Stephen J Ohms, Hugh J French, Rohan B H Williams, Rachel W Li, Donghai Zhang, Robyn M Lucas, Anneke C Blackburn
Breast cancer is a complex disease, and approximately 30% of cases are considered to be hereditary or familial, with a large fraction of this being polygenic. However, it is difficult to demonstrate the functional importance of genes of small effect in population studies, and these genes are not always easily targeted for prevention. The SuprMam (suppressor of mammary tumour) breast cancer susceptibility alleles were previously identified as contributors to spontaneous mammary tumour development in Trp53+/- mice...
December 7, 2018: Journal of Steroid Biochemistry and Molecular Biology
M R Sánchez Pérez, M J Sánchez Pérez, J A Lorente Acosta, E Bayo Lozano, J Mancera Romero
AIMS: To assess the knowledge and attitude among general practitioners in Andalusia on the identification of subjects with elevated risk for breast cancer, colorectal cancer, and hereditary cancers, as well as to detect barriers to accessibility to the screening programs. METHODS: A descriptive, cross-sectional study was conducted based on an online survey of 24 questions. Data are shown as frequencies, and association tests were statistically used. The level of significance was set at<...
October 24, 2018: Semergen
Peter D Beitsch, Pat W Whitworth, Kevin Hughes, Rakesh Patel, Barry Rosen, Gia Compagnoni, Paul Baron, Rache Simmons, Linda Ann Smith, Ian Grady, Michael Kinney, Cynara Coomer, Karen Barbosa, Dennis R Holmes, Eric Brown, Linsey Gold, Patricia Clark, Lee Riley, Samuel Lyons, Antonio Ruiz, Sadia Kahn, Heather MacDonald, Lisa Curcio, Mary Kay Hardwick, Shan Yang, Ed D Esplin, Robert L Nussbaum
PURPOSE: An estimated 10% of breast and ovarian cancers result from hereditary causes. Current testing guidelines for germ line susceptibility genes in patients with breast carcinoma were developed to identify carriers of BRCA1/ 2 variants and have evolved in the panel-testing era. We evaluated the capability of the National Comprehensive Cancer Network (NCCN) guidelines to identify patients with breast cancer with pathogenic variants in expanded panel testing. METHODS: An institutional review board-approved multicenter prospective registry was initiated with 20 community and academic sites experienced in cancer genetic testing and counseling...
December 7, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Kara J Milliron, Jennifer J Griggs
No abstract text is available yet for this article.
December 7, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Carolina Velázquez, Eva M Esteban-Cardeñosa, Enrique Lastra, Luis E Abella, Virginia de la Cruz, Carmen D Lobatón, Mercedes Durán, Mar Infante
Explaining genetic predisposition in Hereditary Breast and Ovarian Cancer (HBOC) families without BRCA mutations is crucial. Germline PALB2 inactivating mutations were associated with an increased risk of HBOC due to its role in DNA repair through cooperation with BRCA proteins. The prevalence and penetrance of PALB2 mutations in Spanish HBOC patients remains unexplained. PALB2 mutation screening has been conducted in 160 high-risk BRCA-negative patients and 320 controls. We evaluated four predicted splicing disruption variants and large genomic rearrangements by multiplex ligation-dependent probe amplification...
November 29, 2018: Breast: Official Journal of the European Society of Mastology
Amir Tajbakhsh, Fahimeh Afzal Javan, Mahdi Rivandi, Atefeh Moezzi, Soheila Abedini, Mahla Asghari, Zahra Farjami, Hosein Soltanian, Fatemeh Homaei Shandiz, Mohammad Mahdi Kooshyar, Alireza Pasdar
Genome-wide association studies normally focus on low penetrance and moderate to high-frequency single nucleotide polymorphisms (SNPs), which lead to genetic susceptibility to breast cancer. In this regard, the T allele of rs3803662 has been associated with breast cancer risk and with lower expression level of TOX3. We aimed to assess the risk of breast cancer associated with this polymorphism in an Iranian population. Using Tetra Primer ARMS PCR, rs3803662 was analyzed in a total of 943 individuals (430 cases and 513 healthy controls form North East of Iran)...
December 4, 2018: Molecular Biology Reports
Talia Donenberg, Sophia George, Jameel Ali, Gabriela Bravo, Karen Hernandez, Navin Sookar, Kimlin Tam Ashing, Steven A Narod, Mohammad R Akbari, Judith Hurley
INTRODUCTION: Breast cancer (BC) is the leading cause of cancer death in Caribbean women. Across the Caribbean islands, the prevalence of hereditary breast cancer among unselected breast cancer patients ranges from 5 to 25%. Moreover, the prevalence of BC among younger women and the high mortality in the Caribbean region are notable. This BC burden presents an opportunity for cancer prevention and control that begins with genetic testing among high-risk women. Measured response to positive genetic test results includes the number of preventive procedures and cascade testing in family members...
December 4, 2018: Breast Cancer Research and Treatment
Abdolkarim Moazeni-Roodi, Saeid Ghavami, Mohammad Hashemi
Growing evidence propose an association between miRNA polymorphisms and cancer susceptibility. This study aimed to examine the impact of miR-605 rs2043556 polymorphism on cancer risk through a meta-analysis based on 3198 cancer cases and 4943 controls. Eligible studies were retrieved by searching Web of Science, PubMed, Scopus, and Google scholar databases up to August 27, 2018. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using a random-effect model to estimate the strength of association between rs2043556 variant of miR-605 and cancer risk...
December 3, 2018: MicroRNA
Flore Laforest, Pia Kirkegaard, Baljinder Mann, Adrian Edwards
BACKGROUND: A growing demand for cancer genetic services has led to suggestions for the involvement of GPs. How, and in which conditions, they can be involved, and whether there are important barriers to implementation should be ascertained. AIM: To review the tools available, clinician attitudes and experiences, and the effects on patients of genetic cancer risk assessment in general practice. DESIGN AND SETTING: Systematic review of papers published worldwide between 1996 and 2017...
December 3, 2018: British Journal of General Practice: the Journal of the Royal College of General Practitioners
Jizhong Zhao, Yueqing Wang, Qianjin Liang, Yan Xu, Jianli Sang
Melanoma-associated antigen A1 (MAGEA1) and BORIS are members of the cancer testis antigens (CTA) family. Their functions and expression regulation mechanisms are not fully understood. In this study, we revealed new functions and regulatory mechanisms of MAGEA1 and BORIS in breast cancer cells, which were investigated in parental and genetically manipulated breast cancer cells via gene overexpression or siRNA interference-mediated down-regulation. We identified the interaction between MAGEA1 and CTCF, which was required for the binding of MAGEA1 to BORIS promoter and critical for the recruitment of DNMT3a...
November 29, 2018: Journal of Cell Science
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