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https://www.readbyqxmd.com/read/28730286/management-of-breast-cancer-risk-in-women-with-ovarian-cancer-and-deleterious-brca1-or-brca2-mutations
#1
EDITORIAL
Andrea E Wahner Hendrickson, Jamie N Bakkum-Gamez, Fergus J Couch, Karthik Ghosh, Judy C Boughey
No abstract text is available yet for this article.
July 20, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28730229/molecular-analysis-of-brca1-and-brca2-genes-by-next-generation-sequencing-and-ultrastructural-aspects-of-breast-tumor-tissue
#2
Corina Elena Mihalcea, Ana Maria Moroşanu, Daniela Murăraşu, Liliana Puiu, Sabin Aurel Cinca, Silviu Cristian Voinea, Nicolae Mirancea
In this paper, we focus our interest on the dynamics alterations of the tumor-stroma interface at the ultrastructural level and to detect BRCA1 and BRCA2 mutations using next generation sequencing (NGS) of breast tumor tissue. Electron microscopic investigation revealed some peculiar infrastructural alterations of the tumor cells per se as well as of the tumor-stroma interface: invadopodia, shedding microvesicles, altered morphology and reduced number of telocytes, different abnormalities of the microvasculature...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729482/brca1-and-brca2-tumor-suppressors-protect-against-endogenous-acetaldehyde-toxicity
#3
Eliana Mc Tacconi, Xianning Lai, Cecilia Folio, Manuela Porru, Gijs Zonderland, Sophie Badie, Johanna Michl, Irene Sechi, Mélanie Rogier, Verónica Matía García, Ankita Sati Batra, Oscar M Rueda, Peter Bouwman, Jos Jonkers, Anderson Ryan, Bernardo Reina-San-Martin, Joannie Hui, Nelson Tang, Alejandra Bruna, Annamaria Biroccio, Madalena Tarsounas
Maintenance of genome integrity requires the functional interplay between Fanconi anemia (FA) and homologous recombination (HR) repair pathways. Endogenous acetaldehyde, a product of cellular metabolism, is a potent source of DNA damage, particularly toxic to cells and mice lacking the FA protein FANCD2. Here, we investigate whether HR-compromised cells are sensitive to acetaldehyde, similarly to FANCD2-deficient cells. We demonstrate that inactivation of HR factors BRCA1, BRCA2, or RAD51 hypersensitizes cells to acetaldehyde treatment, in spite of the FA pathway being functional...
July 20, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28727877/genetic-predisposition-to-breast-cancer-due-to-mutations-other-than-brca1-and-brca2-founder-alleles-among-ashkenazi-jewish-women
#4
Tom Walsh, Jessica B Mandell, Barbara M Norquist, Silvia Casadei, Suleyman Gulsuner, Ming K Lee, Mary-Claire King
Importance: Among Ashkenazi Jewish women, 3 mutations in BRCA1 and BRCA2 severely increase the risk of breast and ovarian cancer. However, among Ashkenazi Jewish patients with breast cancer who do not carry one of these founder mutations, the likelihood of carrying another pathogenic mutation in BRCA1 or BRCA2 or another breast cancer gene is not known. This information would be valuable to the patient and family for cancer prevention and treatment. Objective: To determine the frequency of cancer-predisposing mutations other than the BRCA1 and BRCA2 founder alleles among patients of Ashkenazi Jewish ancestry with breast cancer...
July 20, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28726808/prevalence-of-germ-line-mutations-in-cancer-genes-among-pancreatic-cancer-patients-with-a-positive-family-history
#5
Kari G Chaffee, Ann L Oberg, Robert R McWilliams, Neil Majithia, Brian A Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup, Gloria M Petersen
PurposePanel-based genetic testing has identified increasing numbers of patients with pancreatic ductal adenocarcinoma (PDAC) who carry germ-line mutations. However, small sample sizes or number of genes evaluated limit prevalence estimates of these mutations. We estimated prevalence of mutations in PDAC patients with positive family history.MethodsWe sequenced 25 cancer susceptibility genes in lymphocyte DNA from 302 PDAC patients in the Mayo Clinic Biospecimen Resource for Pancreatic Research Registry. Kindreds containing at least two first-degree relatives with PDAC met criteria for familial pancreatic cancer (FPC), while the remaining were familial, but not FPC...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726806/data-sharing-as-a-national-quality-improvement-program-reporting-on-brca1-and-brca2-variant-interpretation-comparisons-through-the-canadian-open-genetics-repository-cogr
#6
Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye, Elizabeth McCready, Jillian S Parboosingh, Ryan E Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S Charames, Ronald Agatep, Elizabeth L Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R Akbari, Jordan Lerner-Ellis
PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1 and BRCA2 variant data were uploaded and shared through the Canadian Open Genetics Repository (COGR; http://www.opengenetics.ca). A total of 5,554 variant observations were submitted; classification differences were identified and comparison reports were sent to participating laboratories...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28724667/germline-mutations-in-cancer-susceptibility-genes-in-a-large-series-of-unselected-breast-cancer-patients
#7
Jie Sun, Hua Meng, Lu Yao, Meng Lv, Jian Bai, Jianguang Zhang, Lientu Wang, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Yuntao Xie
PURPOSE: The prevalence of mutations in cancer susceptibility genes such as BRCA1 and BRCA2 and other cancer susceptibility genes and their clinical relevance are largely unknown among a large series of unselected breast cancer patients in Chinese population. <p> </p> <p>METHODS: A total of 8085 consecutive unselected Chinese breast cancer patients were enrolled. Germline mutations in 46 cancer susceptibility genes were detected using a 62-gene panel.</p> <p> </p> <p>RESULTS: Pathogenic mutations were identified in 9...
July 19, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28721808/molecular-tests-for-the-choice-of-cancer-therapy
#8
Anna P Sokolenko, Evgeny N Imyanitov
There are over a dozen of approved cancer drugs, whose administration is tailored to predictive laboratory tests. The examples include estrogen and progesterone receptor status determination for the use of endocrine therapy, HER2 assessment for the administration of HER2-targeting agents, EGFR and ALK gene testing for lung cancer treatment, BRAF analysis in melanoma, etc. While first predictive tests relied on relatively easy laboratory procedures, more recent developments require rather sophisticated assays...
July 19, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28717669/pitfalls-in-genetic-testing-a-case-of-a-snp-in-primer-annealing-region-leading-to-allele-dropout-in-brca1
#9
Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, Raquel Stabellini, Dirce Maria Carraro
BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR-based screening techniques, such as capillary sequencing and next-generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Single-nucleotide polymorphisms (SNPs) constitute a vast source of variation in the human genome and represent a risk for misdiagnosis in genetic testing, since the presence of a SNP in primer-annealing sites may cause false negative results due to allele dropout...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717660/a-novel-molecular-diagnostics-platform-for-somatic-and-germline-precision-oncology
#10
Rubén Cabanillas, Marta Diñeiro, David Castillo, Patricia C Pruneda, Cristina Penas, Guadalupe A Cifuentes, Álvaro de Vicente, Noelia S Durán, Rebeca Álvarez, Gonzalo R Ordóñez, Juan Cadiñanos
BACKGROUND: Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have developed a novel NGS diagnostic platform aimed at detecting (1) somatic genomic alterations associated with the response to approved targeted cancer therapies and (2) germline mutations predisposing to hereditary malignancies...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715532/germline-mutation-status-pathological-complete-response-and-disease-free-survival-in-triple-negative-breast-cancer-secondary-analysis-of-the-geparsixto-randomized-clinical-trial
#11
Eric Hahnen, Bianca Lederer, Jan Hauke, Sibylle Loibl, Sandra Kröber, Andreas Schneeweiss, Carsten Denkert, Peter A Fasching, Jens U Blohmer, Christian Jackisch, Stefan Paepke, Bernd Gerber, Sherko Kümmel, Christian Schem, Guido Neidhardt, Jens Huober, Kerstin Rhiem, Serban Costa, Janine Altmüller, Claus Hanusch, Holger Thiele, Volkmar Müller, Peter Nürnberg, Thomas Karn, Valentina Nekljudova, Michael Untch, Gunter von Minckwitz, Rita K Schmutzler
Importance: The GeparSixto trial provided evidence that the addition of neoadjuvant carboplatin to a regimen consisting of anthracycline, taxane, and bevacizumab increases pathological complete response (pCR) rates in patients with triple-negative breast cancer (TNBC). Whether BRCA1 and BRCA2 germline mutation status affects treatment outcome remains elusive. Objective: To determine whether BRCA1 and BRCA2 germline mutation status affects therapy response in patients with TNBC...
July 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28714477/mus81-nuclease-activity-is-essential-for-replication-stress-tolerance-and-chromosome-segregation-in-brca2-deficient-cells
#12
Xianning Lai, Ronan Broderick, Valérie Bergoglio, Jutta Zimmer, Sophie Badie, Wojciech Niedzwiedz, Jean-Sébastien Hoffmann, Madalena Tarsounas
Failure to restart replication forks stalled at genomic regions that are difficult to replicate or contain endogenous DNA lesions is a hallmark of BRCA2 deficiency. The nucleolytic activity of MUS81 endonuclease is required for replication fork restart under replication stress elicited by exogenous treatments. Here we investigate whether MUS81 could similarly facilitate DNA replication in the context of BRCA2 abrogation. Our results demonstrate that replication fork progression in BRCA2-deficient cells requires MUS81...
July 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28714471/progression-through-mitosis-promotes-parp-inhibitor-induced-cytotoxicity-in-homologous-recombination-deficient-cancer-cells
#13
Pepijn M Schoonen, Francien Talens, Colin Stok, Ewa Gogola, Anne Margriet Heijink, Peter Bouwman, Floris Foijer, Madalena Tarsounas, Sohvi Blatter, Jos Jonkers, Sven Rottenberg, Marcel A T M van Vugt
Mutations in homologous recombination (HR) genes BRCA1 and BRCA2 predispose to tumorigenesis. HR-deficient cancers are hypersensitive to Poly (ADP ribose)-polymerase (PARP) inhibitors, but can acquire resistance and relapse. Mechanistic understanding how PARP inhibition induces cytotoxicity in HR-deficient cancer cells is incomplete. Here we find PARP inhibition to compromise replication fork stability in HR-deficient cancer cells, leading to mitotic DNA damage and consequent chromatin bridges and lagging chromosomes in anaphase, frequently leading to cytokinesis failure, multinucleation and cell death...
July 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28712484/relevance-of-dna-damage-repair-in-the-management-of-prostate-cancer
#14
Patricia Banks, Wen Xu, Declan Murphy, Paul James, Shahneen Sandhu
Recent insights into the genomic aberrations that underlie and drive prostate cancer have redoubled efforts to molecularly stratify treatments based on predictive markers. Approximately 23% of patients with metastatic castration-resistant prostate cancer exhibit somatic or germline aberrations in genes implicated in DNA repair, such as BRCA2, BRCA1, ATM, CHEK2, and PALB2, as well as mismatch repair genes. At least 10% of men with advanced disease have germline mutations in DNA-repair genes (DRG). The enrichment of DRG defects in metastatic disease compared with localized, primary tumors suggests a possible role in carcinogenesis, disease progression, and potentially accounts for a more aggressive phenotype...
June 27, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/28706762/metastatic-breast-cancer-with-brca-mutation-discovered-by-next-generation-sequencing-responding-to-olaparib
#15
Wajeeha Rizvi, Phu Truong, Quoc Truong
Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) mutations are associated with hereditary breast and ovarian cancer syndromes (HBOC). However, certain individuals with breast cancer do not meet high-risk factors for hereditary breast cancer screening based on age, family history, and biology of malignancy. We present a patient with relapsed breast cancer who developed progressive disease with significant tumor burden causing a recurrent pleural effusion. Next-generation sequencing (NGS) done on a tumor biopsy was positive for the BRCA2 mutation...
June 11, 2017: Curēus
https://www.readbyqxmd.com/read/28706734/brca1-and-brca2-mutations-and-treatment-strategies-for-breast-cancer
#16
Inês Godet, Daniele M Gilkes
Breast cancer is a global burden with a woman's lifetime risk of developing breast cancer at 1 in 8. Although breast cancer is a disease that affects mostly women, the lifetime risk in men is about 1 in 1000. Most cases of breast cancer are associated with somatic mutations in breast cells that are acquired during a person's lifetime. In this scenario, the mutations are not inherited and they do not cluster in families. In hereditary breast cancer, the specific genetic factors involved will determine the inherited cancer risk...
February 2017: Integrative Cancer Science and Therapeutics
https://www.readbyqxmd.com/read/28706361/opportunistic-salpingectomy-as-an-ovarian-cancer-primary-prevention-strategy
#17
Geetha Balsarkar
Ovarian cancer is the most lethal form of all gynecologic malignancies. The presenting clinical symptoms of ovarian cancer are very vague and often appear late in the course of disease. Hence, most patients are diagnosed at later stages. At present, there is no effective screening of ovarian cancer. Primary prevention could be considered a strategy to decrease the mortality from ovarian cancer, not only in women at high risk but also in those at low risk. Most "ovarian cancers," and more specifically the high-grade serous carcinoma (HGSC) subtype of ovarian cancer, actually could originate in the fallopian tube...
August 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28705099/heat-induced-brca2-degradation-in-human-tumors-provides-rationale-for-hyperthermia-parp-inhibitor-combination-therapies
#18
Nathalie van den Tempel, Hanny Odijk, Netteke van Holthe, Kishan Naipal, Anja Raams, Berina Eppink, Dik van Gent, Jose Hardillo, Gerda Verduijn, Jan Drooger, Gerard van Rhoon, Dineke Smedts, Helena van Doorn, Joost Boormans, Agnes Jager, Martine Franckena, Roland Kanaar
PURPOSE: Hyperthermia (40-44°C) effectively sensitizes tumors to radiotherapy by locally altering tumor biology. One of the effects of heat at the cellular level is inhibition of DNA repair by homologous recombination via degradation of the BRCA2-protein. This suggests that hyperthermia can expand the group of patients that benefit from PARP-inhibitors, a drug exploiting homologous recombination deficiency. Here, we explore whether the molecular mechanisms that cause heat-mediated degradation of BRCA2 are conserved in cell lines from various origins and, most importantly, whether, BRCA2 protein levels can be attenuated by heat in freshly biopted human tumors...
July 13, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28704513/amplification-of-overlapping-dna-amplicons-in-a-single-tube-multiplex-pcr-for-targeted-next-generation-sequencing-of-brca1-and-brca2
#19
Desiree Schenk, Gang Song, Yue Ke, Zhaohui Wang
Current PCR-based target enrichment methods for next generation sequencing (NGS) of overlapping amplicons often requires separate PCR reactions and subsequent pooling of amplicons from the different reactions. The study presents a novel method, deemed stem-loop inhibition mediated amplification (SLIMamp), for amplifying overlapping or tiled amplicons in a single multiplex PCR reaction. During a SLIMamp PCR reaction, a stem loop structure formed by the overlapping amplicon suppresses additional amplification of itself by preventing the annealing of the primers...
2017: PloS One
https://www.readbyqxmd.com/read/28702897/hereditary-diffuse-gastric-cancer-and-lynch-syndromes-in-a-brca1-2-negative-breast-cancer-patient
#20
Scolastica W Njoroge, Kelly R Burgess, Melody A Cobleigh, Hussein H Alnajar, Paolo Gattuso, Lydia Usha
INTRODUCTION: Genetic counseling and testing is recommended for women with a personal and/or family history of breast and other cancers (ovarian, pancreatic, male breast and others). Mutations in the BRCA1 and BRCA2 genes (BRCA1/2) are the most common causes of hereditary breast and ovarian cancer. Additional genetic counseling and testing with a multi-gene panel may be considered in breast cancer patients who tested negative for mutations in these two genes. In about 11% of BRCA1/2-negative patients, further genetic testing reveals pathogenic mutations in other high or moderate cancer risk genes...
July 12, 2017: Breast Cancer Research and Treatment
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