keyword
MENU ▼
Read by QxMD icon Read
search

Brca1 and brca2

keyword
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
#1
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/28715532/germline-mutation-status-pathological-complete-response-and-disease-free-survival-in-triple-negative-breast-cancer-secondary-analysis-of-the-geparsixto-randomized-clinical-trial
#2
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/28714471/progression-through-mitosis-promotes-parp-inhibitor-induced-cytotoxicity-in-homologous-recombination-deficient-cancer-cells
#3
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
#4
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
#5
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
#6
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
#7
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/28704513/amplification-of-overlapping-dna-amplicons-in-a-single-tube-multiplex-pcr-for-targeted-next-generation-sequencing-of-brca1-and-brca2
#8
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
#9
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
https://www.readbyqxmd.com/read/28699130/cost-effectiveness-of-risk-reducing-mastectomy-versus-surveillance-in-brca-mutation-carriers-with-a-history-of-ovarian-cancer
#10
Charlotte Gamble, Laura J Havrilesky, Evan R Myers, Junzo P Chino, Scott Hollenbeck, Jennifer K Plichta, P Kelly Marcom, E Shelley Hwang, Noah D Kauff, Rachel A Greenup
BACKGROUND: The appropriate management of breast cancer risk in BRCA mutation carriers following ovarian cancer diagnosis remains unclear. We sought to determine the survival benefit and cost effectiveness of risk-reducing mastectomy (RRM) among women with BRCA1/2 mutations following stage II-IV ovarian cancer. DESIGN: We constructed a decision model from a third-party payer perspective to compare annual screening with magnetic resonance imaging (MRI) and mammography to annual screening followed by RRM with reconstruction following ovarian cancer diagnosis...
July 11, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28697982/prostate-cancer-screening-in-a-new-era-of-genetics
#11
Heather H Cheng, Colin C Pritchard, Bruce Montgomery, Daniel W Lin, Peter S Nelson
Men who inherit pathogenic germline mutations in BRCA2 and BRCA1 are at increased risk of developing aggressive prostate cancer, and those with germline mutations in other DNA repair genes such as ATM, CHEK2, and MSH2/MSH6 may also have increased risks. Although clinically important, there is lack of specific guidance regarding management strategies for men at increased risk owing to germline mutation status or family history of aggressive prostate cancer. We review prostate cancer genetic risk factors and the ongoing IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) screening study...
May 31, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28695303/a-comparison-of-cosegregation-analysis-methods-for-the-clinical-setting
#12
John Michael O Rañola, Quanhui Liu, Elisabeth A Rosenthal, Brian H Shirts
Quantitative cosegregation analysis can help evaluate the pathogenicity of genetic variants. However, genetics professionals without statistical training often use simple methods, reporting only qualitative findings. We evaluate the potential utility of quantitative cosegregation in the clinical setting by comparing three methods. One thousand pedigrees each were simulated for benign and pathogenic variants in BRCA1 and MLH1 using United States historical demographic data to produce pedigrees similar to those seen in the clinic...
July 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28692916/discovery-mechanism-and-metabolism-studies-of-2-3-difluorophenyl-linker-containing-parp1-inhibitors-with-enhanced-in%C3%A2-vivo-efficacy-for-cancer-therapy
#13
Wenhua Chen, Ne Guo, Minghui Qi, Haiying Dai, Minghuang Hong, Longfei Guan, Xiajuan Huan, Shanshan Song, Jinxue He, Yingqing Wang, Yong Xi, Xinying Yang, Yanyan Shen, Yi Su, Yiming Sun, Yinglei Gao, Yi Chen, Jian Ding, Yun Tang, Guobin Ren, Zehong Miao, Jian Li
Poly (ADP-ribose) polymerase 1 (PARP1) is overexpressed in a variety of cancers, especially breast and ovarian cancers, and tumor cell lines deficient in breast cancer gene 1/2 (BRCA1/2) are highly sensitive to PARP1 inhibition. In this study, with the help of molecular docking, we identified a novel series of 2,3-difluorophenyl-linker analogues (15-54) derived from olaparib (1) as PARP1 inhibitors. Lead optimization led to the identification of 47, which showed high selectivity and high potency against PARP1 enzyme (IC50 = 1...
June 27, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28692638/the-first-nationwide-multicenter-prevalence-study-of-germline-brca1-and-brca2-mutations-in-chinese-ovarian-cancer-patients
#14
Xiaohua Wu, Lingying Wu, Beihua Kong, Jihong Liu, Rutie Yin, Hao Wen, Ning Li, Hualei Bu, Yanling Feng, Qingli Li, Xuesong Lu, Jia Wei, Xuehua Zhu, John Mills, Gillian Ellison, Thorsten Gutjahr, Yuzhen Liu
OBJECTIVE: Subjects with germline BRCA1/2 mutations (gBRCAm) have an increased risk of developing ovarian cancer and enhanced sensitivity to platinum-containing agents and PARP (poly[ADP-ribose] polymerase) inhibitors. BRCA mutations in Asian patients are poorly understood compared with other populations. We aimed to investigate gBRCAm prevalence and characteristics in Chinese ovarian cancer patients. METHODS: We conducted the first nationwide multicenter gBRCAm prevalence study in China...
July 7, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28691344/combined-tumor-genomic-profiling-and-exome-sequencing-in-a-breast-cancer-family-implicates-atm-in-tumorigenesis-a-proof-of-principle-study
#15
Virginie Bubien, Françoise Bonnet, Jennifer Dupiot-Chiron, Emmanuelle Barouk-Simonet, Natalie Jones, Aurélien de Reynies, Gaëtan MacGrogan, Nicolas Sevenet, Eric Letouzé, Michel Longy
Familial breast cancers (BCs) account for 10-20% of all diagnosed BCs, yet only 20% of such tumors arise in the context of a germline mutation in known tumor suppressor genes such as BRCA1 or BRCA2. The vast genetic heterogeneity which characterizes non BRCA1 and non BRCA2 (or BRCAx) families makes grouped studies impossible to perform. Next generation sequencing techniques, however, allow individual families to be studied in order to identify rare and or private mutations but the high number of genetic variants identified need to be sorted using pathogenicity or recurrence criteria...
July 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28690137/cost-effectiveness-of-population-based-brca-testing-with-varying-ashkenazi-jewish-ancestry
#16
Ranjit Manchanda, Shreeya Patel, Antonis C Antoniou, Ephrat Levy-Lahad, Clare Turnbull, Gareth Evans, John Hopper, Robert J Macinnis, Usha Menon, Ian Jacobs, Rosa Legood
BACKGROUND: Population based BRCA1/BRCA2 testing has been found to be cost-effective compared to family-history based testing in Ashkenazi-Jewish (AJ) women >30years with four AJ-grandparents. However, individuals may have one, two or three AJ grandparents and cost-effectiveness data are lacking at these lower BRCA prevalence estimates. We present an updated cost-effectiveness analysis of population BRCA1/BRCA2 testing for women with one, two and three AJ grandparents. METHODS: Life time costs and effects of population and family-history based testing were compared using a decision analysis model...
July 6, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28687356/germline-mutations-in-dna-repair-genes-predispose-asbestos-exposed-patients-to-malignant-pleural-mesothelioma
#17
Marta Betti, Elisabetta Casalone, Daniela Ferrante, Anna Aspesi, Giulia Morleo, Alessandra Biasi, Marika Sculco, Giuseppe Mancuso, Simonetta Guarrera, Luisella Righi, Federica Grosso, Roberta Libener, Mansueto Pavesi, Narciso Mariani, Caterina Casadio, Renzo Boldorini, Dario Mirabelli, Barbara Pasini, Corrado Magnani, Giuseppe Matullo, Irma Dianzani
Malignant pleural mesothelioma (MPM) is a rare, aggressive cancer caused by asbestos exposure. An inherited predisposition has been suggested to explain multiple cases in the same family and the observation that not all individuals highly exposed to asbestos develop the tumor. Germline mutations in BAP1 are responsible for a rare cancer predisposition syndrome that includes predisposition to mesothelioma. We hypothesized that other genes involved in hereditary cancer syndromes could be responsible for the inherited mesothelioma predisposition...
July 4, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28685084/current-condition-of-genetic-medicine-for-hereditary-breast-cancer
#18
Hiroko Terui-Kohbata, Masayuki Yoshida
BRCA1 or BRCA2 (BRCA1/2) germline mutations, which cause hereditary breast and ovarian cancer syndrome, have been studied to develop targeted therapies for these associated cancer types. The BRCA1/2 test has been implemented in more than one hundred medical facilities in a clinical setting in Japan. The purpose of the current study is to document the prevalence and the awareness of genetic medicine for all hereditary breast cancer (HBC) including the BRCA1/2 test in Japan. The self-administered questionnaire was sent to 120 medical facilities where the BRCA1/2 test was provided, and 83 health care professionals participated (response rate, 69...
July 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28680148/prevalence-and-penetrance-of-brca1-and-brca2-germline-mutations-in-colombian-breast-cancer-patients
#19
D Torres, J Lorenzo Bermejo, M U Rashid, I Briceño, F Gil, A Beltran, V Ariza, U Hamann
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28679863/targeted-exome-sequencing-of-korean-triple-negative-breast-cancer-reveals-homozygous-deletions-associated-with-poor-prognosis-of-adjuvant-chemotherapy-treated-patients
#20
Hae Min Jeong, Ryong Nam Kim, Mi Jeong Kwon, Ensel Oh, Jinil Han, Se Kyung Lee, Jong-Sun Choi, Sara Park, Seok Jin Nam, Gyung Yup Gong, Jin Wu Nam, Doo Ho Choi, Hannah Lee, Byung-Ho Nam, Yoon-La Choi, Young Kee Shin
Triple-negative breast cancer is characterized by the absence of estrogen and progesterone receptors and human epidermal growth factor receptor 2, and is associated with a poorer outcome than other subtypes of breast cancer. Moreover, there are no accurate prognostic genes or effective therapeutic targets, thereby necessitating continued intensive investigation. This study analyzed the genetic mutation landscape in 70 patients with triple-negative breast cancer by targeted exome sequencing of tumor and matched normal samples...
June 27, 2017: Oncotarget
keyword
keyword
9786
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"