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Breast cancer genetic tests

Hildegunn Høberg-Vetti, Geir Egil Eide, Elen Siglen, Wenche Listøl, Marianne Tveit Haavind, Nicoline Hoogerbrugge, Cathrine Bjorvatn
BACKGROUND: Genetic testing is increasing in patients newly diagnosed with cancer. This study investigated the levels, course and predictors of cancer-related distress, defined as intrusion and avoidance, in women undergoing BRCA1/2 testing without pretest genetic counseling shortly after a diagnosis of breast or ovarian cancer. MATERIAL AND METHODS: Unselected for family history or age, 259 women with breast cancer and 50 women with ovarian cancer, underwent BRCA1/2 testing shortly after diagnosis...
October 18, 2018: Acta Oncologica
Yi Ma, Lijie He, Qianwen Huang, Shuang Zheng, Zhiqiang Zhang, Hongshi Li, Shuang Liu
BACKGROUND: Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified prostate cancers with defects in DNA repair genes. It is known that the PARP inhibitor, olaparib, has a significant synthetic lethal effect on tumors with BRCA 1/2 mutations, particularly in ovarian and breast cancer. CASE PRESENTATION: In this study, we describe a patient with metastatic castration-resistant prostate cancer (mCRPC) containing a BRCA2 germline mutation who underwent olaparib treatment...
October 17, 2018: BMC Medical Genetics
Elizabeth A Gay, Peter H Byers, Robin L Bennett, Thomas D Bird, Fuki M Hisama
PURPOSE: We analyzed the patients served by the University of Washington Adult Genetic Medicine Clinic (UWAGMC) over a 42-year period to determine how clinical services have changed and to evaluate the contributing factors. METHODS: We conducted a retrospective survey of patients seen by UWAGMC that included patients seen from 1975 to 2016. Variables considered included referral indication, disease status, and clinic visit date. Indications for referral were then binned into clinical categories for descriptive analysis...
October 16, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Su Yon Jung, Nick Mancuso, Herbert Yu, Jeanette Papp, Eric M Sobel, Zuo-Feng Zhang
Insulin-resistance (IR)-related genetic variants are possibly associated with breast cancer, and the gene-phenotype-cancer association could be modified by lifestyle factors including obesity, physical inactivity, and high-fat diet. Using data from postmenopausal women, a population highly susceptible to obesity, IR, and increased risk of breast cancer, we implemented a genome-wide association study (GWAS) in 2 steps: 1) GWAS meta-analysis of gene-environmental (i.e., behavioral) interaction (G*E) for IR phenotypes (hyperglycemia, hyperinsulinemia, and homeostatic model assessment-insulin resistance); and 2) after the G*E GWAS meta-analysis, the identified single-nucleotide polymorphisms (SNPs) were tested for their associations with breast cancer risk in overall or subgroup population, where the SNPs were identified at genome-wide significance...
October 16, 2018: Cancer Prevention Research
Joo-Yeon Lee, Jisun Kim, Sung-Won Kim, Sue K Park, Sei Hyun Ahn, Min Hyuk Lee, Young Jin Suh, Dong-Young Noh, Byung Ho Son, Young Up Cho, Sae Byul Lee, Jong Won Lee, John L Hopper, Joohon Sung
"BRCAX" refers breast cancers occurring in women with a family history predictive of being a BRCA1/2 mutation carrier, but BRCA1/2 genetic screening has failed to find causal mutations. In this study, we report the findings of the genetic architecture of BRCAX with novel and redefined candidate loci and their potential impacts on preventive strategy. We performed a genome-wide association study involving 1,469 BRCAX cases from the Korean Hereditary Breast Cancer study, and high-risk breast cancer cases (1,482 Asians and 9,902 Europeans) from the Breast Cancer Association Consortium...
October 15, 2018: Scientific Reports
Natalie J Carter, Megan L Marshall, Lisa R Susswein, Kristin K Zorn, Susan Hiraki, Kevin J Arvai, Rebecca I Torene, Anna K McGill, Lauren Yackowski, Patricia D Murphy, Zhixiong Xu, Benjamin D Solomon, Rachel T Klein, Kathleen S Hruska
OBJECTIVE: The recognition of genes implicated in ovarian cancer risk beyond BRCA1, BRCA2, and the Lynch syndrome genes has increased the variety of testing options available to providers and patients. We report the frequency of pathogenic variants identified among individuals with ovarian cancer undergoing clinical genetic testing via a multi-gene hereditary cancer panel. METHODS: Genetic testing of up to 32 genes using a hereditary cancer panel was performed on 4439 ovarian cancer cases, and results were analyzed for frequency of pathogenic variants...
October 12, 2018: Gynecologic Oncology
J B Burrion
Breast cancer screening is a public health challenge. Belgium has the worldwide highest age-standardized breast cancer incidence. It ranks third in terms of specific mortality. The causes are unclear and presumably multifactorial. Like most European countries, Belgium has set up a screening program since 2001. Despite coverage rates varying from one Region to another, the annual 2 % specific mortality decline (observed in the vast majority of European countries) is the same. The age-based screening programs recommended by the European Union are often debated for their questionable impact on mortality and on incidence of advanced tumors (stages II and beyond), and for the harms they may generates (over-diagnosis, false positives)...
2018: Revue Médicale de Bruxelles
E Kate Reed, Emily A Edelman
Increasingly, individuals are interested in genetic testing to find out if they are at increased risk for breast cancer and other diseases. Through direct-to-consumer genetic testing, people can receive information about many different traits, including some risk information about hereditary breast and ovarian cancer syndrome. With more people getting this information outside of the medical setting, clinicians should be aware of the benefits and limitations of such testing.
October 2018: Journal of the American Association of Nurse Practitioners
Kent F Hoskins, Silvia Tejeda, Ganga Vijayasiri, Ifeanyi Beverly Chukwudozie, Mylene H Remo, Hiral A Shah, Ivy E Abraham, Lara E Balay, Tara K Maga, Ericka R Searles, Veena J Korah, Alana Biggers, Melinda R Stolley, Richard B Warnecke
BACKGROUND: The US Preventive Services Task Force (USPSTF) endorses routine screening for genetic risk of breast and/or ovarian cancer as a component of primary health care. Implementation of this recommendation may prove challenging, especially in clinics serving disadvantaged communities. METHODS: The authors tested the feasibility of implementing the USPSTF mandate at a federally qualified health center (FQHC) to identify women who were eligible for genetic counseling (GC)...
October 15, 2018: Cancer
Frank Qian, Shengfeng Wang, Jonathan Mitchell, Lesley McGuffog, Daniel Barrowdale, Goska Leslie, Jan C Oosterwijk, Wendy K Chung, D Gareth Evans, Christoph Engel, Karin Kast, Cora M Aalfs, Muriel A Adank, Julian Adlard, Bjarni A Agnarsson, Kristiina Aittomäki, Elisa Alducci, Irene L Andrulis, Banu K Arun, Margreet G E M Ausems, Jacopo Azzollini, Emmanuelle Barouk-Simonet, Julian Barwell, Muriel Belotti, Javier Benitez, Andreas Berger, Ake Borg, Angela R Bradbury, Joan Brunet, Saundra S Buys, Trinidad Caldes, Maria A Caligo, Ian Campbell, Sandrine M Caputo, Jocelyne Chiquette, Kathleen B M Claes, J Margriet Collée, Fergus J Couch, Isabelle Coupier, Mary B Daly, Rosemarie Davidson, Orland Diez, Susan M Domchek, Alan Donaldson, Cecilia M Dorfling, Ros Eeles, Lidia Feliubadaló, Lenka Foretova, Jeffrey Fowler, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Vanesa Garcia-Barberan, Gord Glendon, Andrew K Godwin, Encarna B Gómez Garcia, Jacek Gronwald, Eric Hahnen, Ute Hamann, Alex Henderson, Carolyn B Hendricks, John L Hopper, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Ángel Izquierdo, Anna Jakubowska, Katarzyna Kaczmarek, Eunyoung Kang, Beth Y Karlan, Carolien M Kets, Sung-Won Kim, Zisun Kim, Ava Kwong, Yael Laitman, Christine Lasset, Min Hyuk Lee, Jong Won Lee, Jihyoun Lee, Jenny Lester, Fabienne Lesueur, Jennifer T Loud, Jan Lubinski, Noura Mebirouk, Hanne E J Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Thea M Mooij, Patrick J Morrison, Emmanuelle Mouret-Fourme, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Finn C Nielsen, Robert L Nussbaum, Kenneth Offit, Edith Olah, Kai-Ren Ong, Laura Ottini, Sue K Park, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Bruce Poppe, Nisha Pradhan, Paolo Radice, Susan J Ramus, Johanna Rantala, Mark Robson, Gustavo C Rodriguez, Rita K Schmutzler, Christina G Hutten Selkirk, Payal D Shah, Jacques Simard, Christian F Singer, Johanna Sokolowska, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, R Manuel Teixeira, Soo H Teo, Mary Beth Terry, Thomassen Mads, Tischkowitz Marc, E Toland Amanda, M Tucker Katherine, Tung Nadine, Christi J van Asperen, Klaartje van Engelen, Elizabeth J van Rensburg, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Drakoulis Yannoukakos, Mark H Greene, Matti A Rookus, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, David E Goldgar, Olufunmilayo I Olopade, Timothy R Rebbeck, Dezheng Huo
Background: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear. Methods: We used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer...
October 12, 2018: Journal of the National Cancer Institute
Martin P Nilsson, Erik D Nilsson, Åke Borg, Yvonne Brandberg, Barbro Silfverberg, Niklas Loman
PURPOSE: In the BRCAsearch study, unselected breast cancer patients were prospectively offered germline BRCA1/2 mutation testing through a simplified testing procedure. The purpose of the present study was to evaluate satisfaction with the BRCAsearch testing procedure and, furthermore, to report on uptake rates of prophylactic surgeries among mutation carriers. METHODS: Pre-test information was provided by a standardized invitation letter instead of in-person genetic counseling...
October 11, 2018: Breast Cancer Research and Treatment
Olfat G Shaker, Mahmoud A Senousy
BACKGROUND: Genetic susceptibility for breast cancer (BC) is still poorly understood. A combination of multiple low-penetrant alleles of cancer-related genes and gene-gene interactions (epistasis) contributes to BC risk. Genetic variants in receptor activator of nuclear factor κB ligand (RANKL), osteoprotegerin (OPG), chitinase-3-like protein 1 (CHI3L1), and vitamin D receptor (VDR) genes are implicated in breast carcinogenesis; however, the influence of their epistatic effects on BC susceptibility has not yet been studied...
September 19, 2018: Clinical Breast Cancer
Florian Obermair, Melanie Rammer, Jonathan Burghofer, Theodora Malli, Anna Schossig, Katharina Wimmer, Wolfgang Kranewitter, Beate Mayrbaeurl, Hans-Christoph Duba, Gerald Webersinke
Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an extensive pedigree presenting with HDGC, CLP and a CDH1 splice site mutation (c.687 + 1G > A) and review the literature for families with CDH1 mutations, HDGC and CLP. Transcript analysis showed that the c...
October 10, 2018: Familial Cancer
Elodie Girard, Séverine Eon-Marchais, Robert Olaso, Anne-Laure Renault, Francesca Damiola, Marie-Gabrielle Dondon, Laure Barjhoux, Didier Goidin, Vincent Meyer, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Christine Lonjou, Juliette Coignard, Morgane Marcou, Eve Cavaciuti, Céline Baulard, Marie-Thérèse Bihoreau, Odile Cohen-Haguenauer, Dominique Leroux, Clotilde Penet, Sandra Fert-Ferrer, Chrystelle Colas, Thierry Frebourg, François Eisinger, Claude Adenis, Anne Fajac, Laurence Gladieff, Julie Tinat, Anne Floquet, Jean Chiesa, Sophie Giraud, Isabelle Mortemousque, Florent Soubrier, Séverine Audebert-Bellanger, Jean-Marc Limacher, Christine Lasset, Sophie Lejeune-Dumoulin, Hélène Dreyfus, Yves-Jean Bignon, Michel Longy, Pascal Pujol, Laurence Venat-Bouvet, Valérie Bonadona, Pascaline Berthet, Elisabeth Luporsi, Christine M Maugard, Catherine Noguès, Capucine Delnatte, Jean-Pierre Fricker, Paul Gesta, Laurence Faivre, Alain Lortholary, Bruno Buecher, Olivier Caron, Marion Gauthier-Villars, Isabelle Coupier, Nicolas Servant, Anne Boland, Sylvie Mazoyer, Jean-François Deleuze, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
Pathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. Because of cost-effectiveness, multigene panel testing is often performed even if the clinical utility of testing most of the genes remains questionable. The purpose of this study was to assess the contribution of rare, deleterious-predicted variants in DNA repair genes in familial breast cancer (BC) in a well-characterized and homogeneous population. We analysed 113 DNA repair genes selected from either an exome sequencing or a candidate gene approach in the GENESIS study, which includes familial BC cases with no BRCA1 or BRCA2 mutation and having a sister with BC (N=1,207), and general population controls (N=1,199)...
October 10, 2018: International Journal of Cancer. Journal International du Cancer
Cheng-Hong Yang, Huai-Shuo Yang, Li-Yeh Chuang
Studies on multilocus interactions have mainly investigated the associations between genetic variations from the related genes and histopathological tumor characteristics in patients. However, currently, the identification and characterization of susceptibility genes for complex diseases remain a great challenge for geneticists. In this study, a particle swarm optimization (PSO)-based multifactor dimensionality reduction (MDR) approach was proposed, denoted by PBMDR. MDR was used to detect multilocus interactions based on the PSO algorithm...
October 5, 2018: Journal of Theoretical Biology
A Doren, A Vecchiola, B Aguirre, P Villaseca
Women carriers of mutations in the genes BRCA1 and BRCA2 coding for tumor suppressor proteins are at high risk of developing breast and ovarian cancers. Hereditary breast and ovarian cancers due to BRCA pathogenic mutations occur at earlier ages: mean age 43 years at diagnosis of breast cancer for BRCA1 mutations; onset of ovarian cancer up to 10-21% by age 50 years. Preventive strategies are then defined in the reproductive years. The National Comprehensive Cancer Network (NCCN) guidelines define that BRCA1/2 genetic testing should begin with the affected cancer individual (BRCA1/2 full sequencing); then, family members should be tested for the specific gene mutation found...
October 8, 2018: Climacteric: the Journal of the International Menopause Society
Michele C Gornick, Allison W Kurian, Lawrence C An, Angela Fagerlin, Reshma Jagsi, Steven J Katz, Sarah T Hawley
BACKGROUND: The current study reports rates of knowledge regarding the probability of a BRCA1 and/or S pathogenic variant and genetic testing in patients with breast cancer, collected as part of a randomized controlled trial of a tailored, comprehensive, and interactive decision tool (iCanDecide). METHODS: A total of 537 patients newly diagnosed with early-stage breast cancer were enrolled at the time of their first visit in 22 surgical practices, and were surveyed 5 weeks (496 patients; Response Rate [RR], 92%) after enrollment after treatment decision making...
October 5, 2018: Cancer
Lara Petelin, Paul A James, Alison H Trainer
Federal funding for germline genetic testing in hereditary breast and ovarian cancer (HBOC) was recently introduced. Germline testing for HBOC under Medicare Benefits Schedule items 73296/73297 can be requested by any specialist, whereas the previous state- and territory-funded testing was limited to those operating within a familial cancer service. The impact of this decentralisation of HBOC testing on health and economic outcomes is uncertain, primarily as it has potential to significantly disrupt the clinical framework that generated the evidence used to justify clinical implementation of the Medicare Benefits Schedules...
October 2018: Internal Medicine Journal
Ismail Jatoi
Genetic testing is now widely utilized to identify women with a hereditary predisposition for breast cancer. Women who carry mutations that increase breast cancer risk may consider three options to reduce risk: screening, chemoprevention, and prophylactic surgery. Yet, no randomized trials have specifically assessed the efficacy of these options in mutation carriers. In many developed countries, mammography is regarded as the optimal means of screening for breast cancer in the general population. However, breast MRI is a more sensitive screening tool, and for mutation carriers, any breast cancer screening strategy should incorporate screening with MRI...
October 2018: European Journal of Breast Health
Benjamí Oller-Salvia
Antibody-drug conjugates (ADCs) used nowadays in clinical practice are mixtures of antibody molecules linked to a varying number of toxins at different positions. Preclinical studies have shown that the therapeutic index of these traditional ADCs can be improved by the site-specific linkage of toxins. However, current approaches to produce homogeneous ADCs have several limitations, such as low protein expression and slow reaction kinetics. In this protocol we describe how to set up an expression system to incorporate a cyclopropene derivative of lysine (CypK) into antibodies using genetic code expansion...
September 14, 2018: Journal of Visualized Experiments: JoVE
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