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https://www.readbyqxmd.com/read/28212573/dynamic-variations-in-epithelial-to-mesenchymal-transition-emt-atm-and-slfn11-govern-response-to-parp-inhibitors-and-cisplatin-in-small-cell-lung-cancer
#1
C Allison Stewart, Pan Tong, Robert J Cardnell, Triparna Sen, Lerong Li, Carl M Gay, Fatemah Masrorpour, You Fan, Rasha O Bara, Ying Feng, Yuanbin Ru, Junya Fujimoto, Samrat T Kundu, Leonard E Post, Karen Yu, Yuqiao Shen, Bonnie S Glisson, Ignatio Wistuba, John V Heymach, Don L Gibbons, Jing Wang, Lauren Averett Byers
Small cell lung cancer (SCLC) is one of the most aggressive forms of cancer, with a 5-year survival <7%. A major barrier to progress is the absence of predictive biomarkers for chemotherapy and novel targeted agents such as PARP inhibitors. Using a high-throughput, integrated proteomic, transcriptomic, and genomic analysis of SCLC patient-derived xenografts (PDXs) and profiled cell lines, we identified biomarkers of drug sensitivity and determined their prevalence in patient tumors. In contrast to breast and ovarian cancer, PARP inhibitor response was not associated with mutations in homologous recombination (HR) genes (e...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28211448/cx-5461-is-a-dna-g-quadruplex-stabilizer-with-selective-lethality-in-brca1-2-deficient-tumours
#2
Hong Xu, Marco Di Antonio, Steven McKinney, Veena Mathew, Brandon Ho, Nigel J O'Neil, Nancy Dos Santos, Jennifer Silvester, Vivien Wei, Jessica Garcia, Farhia Kabeer, Daniel Lai, Priscilla Soriano, Judit Banáth, Derek S Chiu, Damian Yap, Daniel D Le, Frank B Ye, Anni Zhang, Kelsie Thu, John Soong, Shu-Chuan Lin, Angela Hsin Chin Tsai, Tomo Osako, Teresa Algara, Darren N Saunders, Jason Wong, Jian Xian, Marcel B Bally, James D Brenton, Grant W Brown, Sohrab P Shah, David Cescon, Tak W Mak, Carlos Caldas, Peter C Stirling, Phil Hieter, Shankar Balasubramanian, Samuel Aparicio
G-quadruplex DNAs form four-stranded helical structures and are proposed to play key roles in different cellular processes. Targeting G-quadruplex DNAs for cancer treatment is a very promising prospect. Here, we show that CX-5461 is a G-quadruplex stabilizer, with specific toxicity against BRCA deficiencies in cancer cells and polyclonal patient-derived xenograft models, including tumours resistant to PARP inhibition. Exposure to CX-5461, and its related drug CX-3543, blocks replication forks and induces ssDNA gaps or breaks...
February 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28205427/utility-of-brca1-associated-protein-1-immunoperoxidase-stain-to-differentiate-benign-versus-malignant-mesothelial-proliferations-in-cytologic-specimens
#3
Zulfia McCroskey, Gregg Staerkel, Sinchita Roy-Chowdhuri
BACKGROUND: Loss of BAP1 has recently been described as a highly specific marker for distinguishing malignant mesotheliomas (MM) from benign mesothelial proliferations (BMP). The aim of this study was to evaluate the utility of BAP1 in cytospin and cell block (CB) preparations. METHODS: We searched the database at our institution for cases of MM (n = 21) and BMP (n = 11). A Papanicolaou stained cytospin preparation and CB section from each case were selected for BAP1 staining...
February 16, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28205045/characteristics-of-brca1-2-mutations-carriers-including-large-genomic-rearrangements-in-high-risk-breast-cancer-patients
#4
Boyoung Park, Ji Yeon Sohn, Kyong-Ah Yoon, Keun Seok Lee, Eun Hae Cho, Myong Cheol Lim, Moon Jung Yang, Soo Jin Park, Moo Hyun Lee, See Youn Lee, Yoon Jung Chang, Dong Ock Lee, Sun-Young Kong, Eun Sook Lee
PURPOSE: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic. METHODS: In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated...
February 15, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28202063/next-generation-sequencing-in-familial-breast-cancer-patients-from-lebanon
#5
Nadine Jalkh, Eliane Chouery, Zahraa Haidar, Christina Khater, David Atallah, Hamad Ali, Makia J Marafie, Mohamed R Al-Mulla, Fahd Al-Mulla, Andre Megarbane
BACKGROUND: Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16-40% of familial BC, while other high, moderate and low susceptibility genes explain up to 20% more of BC families. The Lebanese reported prevalence of BRCA1 and BRCA2 deleterious mutations (5.6% and 12.5%) were lower than those reported in the literature. METHODS: In the presented study, 45 Lebanese patients with a reported family history of BC were tested using Whole Exome Sequencing (WES) technique followed by Sanger sequencing validation...
February 15, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28199346/revertant-mosaicism-for-family-mutations-is-not-observed-in-brca1-2-phenocopies
#6
Jacopo Azzollini, Chiara Pesenti, Luca Ferrari, Laura Fontana, Mariarosaria Calvello, Bernard Peissel, Giorgio Portera, Silvia Tabano, Maria Luisa Carcangiu, Paola Riva, Monica Miozzo, Siranoush Manoukian
In BRCA1/2 families, early-onset breast cancer (BrCa) cases may be also observed among non-carrier relatives. These women are considered phenocopies and raise difficult counselling issues concerning the selection of the index case and the residual risks estimate in negative family members. Few studies investigated the presence of potential genetic susceptibility factors in phenocopies, mainly focussing on BrCa-associated single-nucleotide polymorphisms. We hypothesized that, as for other Mendelian diseases, a revertant somatic mosaicism, resulting from spontaneous correction of a pathogenic mutation, might occur also in BRCA pedigrees...
2017: PloS One
https://www.readbyqxmd.com/read/28197122/commentary-bilateral-risk-reducing-mastectomy-is-the-safest-strategy-in-brca1-carriers
#7
COMMENT
Rachael Glassey, Christobel Saunders, Sarah J Hardcastle
No abstract text is available yet for this article.
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28196964/fancd2-binds-human-papillomavirus-genomes-and-associates-with-a-distinct-set-of-dna-repair-proteins-to-regulate-viral-replication
#8
Chelsey C Spriggs, Laimonis A Laimins
The life cycle of human papillomavirus (HPV) is dependent on the differentiation state of its host cell. HPV genomes are maintained as low-copy episomes in basal epithelial cells and amplified to thousands of copies per cell in differentiated layers. Replication of high-risk HPVs requires the activation of the ataxia telangiectasia-mutated (ATM) and ATM and Rad3-related (ATR) DNA repair pathways. The Fanconi anemia (FA) pathway is a part of the DNA damage response and mediates cross talk between the ATM and ATR pathways...
February 14, 2017: MBio
https://www.readbyqxmd.com/read/28196667/stress-granules-assembly-affects-detection-of-mrna-in-living-cells-by-the-nanoflares-an-important-aspect-of-the-technology
#9
Magdalena Wolczyk, Paulina Podszywalow-Bartnicka, Lukasz Bugajski, Katarzyna Piwocka
The recently announced new methodologies to detect mRNA molecules in single cells offer opportunities for research, medicine and molecular diagnostics. The NanoFlare RNA Detection Probes are tools for characterizing RNA content (not localization) using fluorescence-based approaches in living cells. Combined with flow cytometry NanoFlares have expanded the available possibilities of quantitative analysis of mRNA level in a single cell. Herein we present, that the specific NanoFlare probes (SmartFlares), in some cases detect different amounts of mRNA compared to qPCR...
February 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28194609/a-high-frequency-of-palb2-mutations-in-jamaican-patients-with-breast-cancer
#10
Jordan Lerner-Ellis, Talia Donenberg, Humayun Ahmed, Sophia George, Gilian Wharfe, Sheray Chin, Dwight Lowe, Robert Royer, Shiyu Zhang, Steven Narod, Judith Hurley, Mohammad R Akbari
PURPOSE: Jamaica is an island nation with one of the highest breast cancer incidence rates in the Caribbean (40/100,000 per year). The contribution of cancer susceptibility gene mutations to the burden of breast cancer in Jamaica has not yet been explored. We sought to determine the prevalence of germline mutations in BRCA1, BRCA2, and PALB2 in 179 unselected Jamaican women with breast cancer. METHODS: We sequenced the entire coding regions of BRCA1, BRCA2, and PALB2 for all the study subjects...
February 13, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28190649/factors-associated-with-deciding-between-risk-reducing-salpingo-oophorectomy-and-ovarian-cancer-screening-among-high-risk-women-enrolled-in-gog-0199-an-nrg-oncology-gynecologic-oncology-group-study
#11
Phuong L Mai, Marion Piedmonte, Paul K Han, Richard P Moser, Joan L Walker, Gustavo Rodriguez, John Boggess, Thomas J Rutherford, Oliver Zivanovic, David E Cohn, J Tate Thigpen, Robert M Wenham, Michael L Friedlander, Chad A Hamilton, Jamie Bakkum-Gamez, Alexander B Olawaiye, Martee L Hensley, Mark H Greene, Helen Q Huang, Lari Wenzel
OBJECTIVES: Women at increased genetic risk of ovarian cancer (OC) are recommended to have risk-reducing salpingo-oophorectomy (RRSO) after completion of reproductive planning. Effective screening has not been established, and novel screening modalities are being evaluated. METHODS: Participants chose either RRSO or a novel OC screening regimen (OCS) as their risk management option, and provided demographic and other data on BRCA mutation status, cancer worry, perceived intervention risks/benefits, perceived cancer risk, and quality-of-life at enrollment...
February 10, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28188963/high-risk-epithelial-ovarian-cancer-patients-for-hereditary-ovarian-cancer
#12
Seksit Chirasophon, Tarinee Manchana, Chinachote Teerapakpinyo
AIM: Risk assessment to identify patients at risk for hereditary ovarian cancer is important. The objectives of this study were to evaluate the frequency of high-risk epithelial ovarian cancer (EOC) patients and the frequency of germline mutation in these patients. METHODS: A total of 335 patients with histologically confirmed non-mucinous EOC were included. High-risk patients were defined as patients who had: (i) significant family history of breast/ovarian/colorectal/endometrial cancers; (ii) synchronous breast/endometrial/colorectal cancer; or (iii) high-grade serous carcinoma...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28187748/characterization-of-ovarian-clear-cell-carcinoma-using-target-drug-based-molecular-biomarkers-implications-for-personalized-cancer-therapy
#13
Mengjiao Li, Haoran Li, Fei Liu, Rui Bi, Xiaoyu Tu, Lihua Chen, Shuang Ye, Xi Cheng
BACKGROUND: It has long been appreciated that different subtypes (serous, clear cell, endometrioid and mucinous) of epithelial ovarian carcinoma (EOC) have distinct pathogenetic pathways. However, clinical management, especially chemotherapeutic regimens, for EOC patients is not subtype specific. Ovarian clear cell carcinoma (CCC) is a rare histological subtype of EOC, which exhibits high rates of recurrence and low chemosensitivity. We assessed potential therapeutic targets for ovarian CCC patients through analyzing the variation of drug-based molecular biomarkers expression between ovarian CCC and high-grade serous carcinoma (HGSC)...
February 10, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28186987/brca1-p-his1673del-is-a-pathogenic-mutation-associated-with-a-predominant-ovarian-cancer-phenotype
#14
Roberta Zuntini, Laura Cortesi, Daniele Calistri, Tommaso Pippucci, Pier Luigi Martelli, Rita Casadio, Elisa Capizzi, Donatella Santini, Sara Miccoli, Veronica Medici, Rita Danesi, Isabella Marchi, Valentina Zampiga, Michelangelo Fiorentino, Simona Ferrari, Daniela Turchetti
We have investigated the clinical significance of the BRCA1 variant p.His1673del in 14 families from the Emilia-Romagna region of Italy, including 20 breast and 23 ovarian cancer cases; four families displayed site-specific ovarian cancer.The variant, absent in human variation databases, has been reported three times in BRCA1 specific databases; all probands shared the same rare haplotype at the BRCA1 locus, consistent with a common ancestor.The multifactorial likelihood method by Goldgar, used to estimate the probability of the variant being causative, gave a ratio of 2,263,474:1 in favor of causality...
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28184945/first-description-of-a-double-heterozygosity-for-brca1-and-brca2-pathogenic-variants-in-a-french-metastatic-breast-cancer-patient-a-case-report
#15
Guillaume Meynard, Laura Mansi, Pierre Lebahar, Cristian Villanueva, Elodie Klajer, Fabien Calcagno, Adrian Vivalta, Marie Chaix, Marie-Agnès Collonge-Rame, Céline Populaire, Marie-Paule Algros, Prudence Colpart, Julie Neidich, Xavier Pivot, Elsa Curtit
Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28184943/analysis-of-chromosomal-radiosensitivity-of-healthy-brca2-mutation-carriers-and-non-carriers-in-brca-families-with-the-g2-micronucleus-assay
#16
Annelot Baert, Julie Depuydt, Tom Van Maerken, Bruce Poppe, Fransiska Malfait, Tim Van Damme, Sylvia De Nobele, Gianpaolo Perletti, Kim De Leeneer, Kathleen B M Claes, Anne Vral
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers). The aim of the present study was to use a G2 phase-specific micronucleus assay to investigate whether lymphocytes of healthy BRCA2 mutation carriers are characterized by increased radiosensitivity compared to controls without a family history of breast/ovarian cancer and how this relates to healthy non-carrier relatives...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28183138/overall-survival-and-clinical-characteristics-of-brca-mutation-carriers-with-stage-i-ii-pancreatic-cancer
#17
Talia Golan, Tal Sella, Eileen M O'Reilly, Matthew H G Katz, Ron Epelbaum, David P Kelsen, Ayelet Borgida, Hannah Maynard, Hedy Kindler, Eitan Friedmen, Milind Javle, Steven Gallinger
BACKGROUND: BRCA1/BRCA2 germ line (GL) mutation carriers with pancreatic adenocarcinoma (PDAC) may have distinct outcomes. We recently described an apparent more favourable prognosis of surgically resected BRCA-associated PDAC patients in a single-arm, uncontrolled, retrospective study. However, the prognostic impact of GL BRCA1/2 mutations in surgically resected PDAC has not been compared with a matched control population. METHODS: A larger multi-centre, case-control retrospective analysis was performed...
February 9, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28182133/he4-serum-levels-in-patients-with-brca1-gene-mutation-undergoing-prophylactic-surgery-as-well-as-in-other-benign-and-malignant-gynecological-diseases
#18
Anita Chudecka-Głaz, Aneta Cymbaluk-Płoska, Aleksandra Strojna, Janusz Menkiszak
Objective. We assess the behavior of serum concentrations of HE4 marker in female carriers of BRCA1 and assess the diagnostic usefulness of HE4 in ovarian and endometrial cancer. Methods. A total of 619 women with BRCA1 gene mutation, ovarian, endometrial, metastatic, other gynecological cancers, or benign gynecological diseases were included. Intergroup comparative analyses were carried out, the BRCA1 gene carriers subgroup was subjected to detailed analysis, and ROC curves were determined for the assessment of diagnostic usefulness of HE4 in ovarian and endometrial cancer...
2017: Disease Markers
https://www.readbyqxmd.com/read/28179634/rapid-and-cost-effective-high-throughput-sequencing-for-identification-of-germline-mutations-of-brca1-and-brca2
#19
Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, Kazuyoshi Hosomichi, Hua You, Emi Utsuno, Takafumi Sangai, Motoi Nishimura, Kazuyuki Matsushita, Akira Hata, Fumio Nomura, Ituro Inoue
Genetic testing for breast cancer predisposing genes, BRCA1 and BRCA2, can take advantage for early identification of carriers with pathogenic germline mutations. However, conventional approaches based on Sanger sequencing are laborious and expensive. Next-generation sequencing technology has a great impact on investigation of medical genomics and now applied clinical genetics. We provide a protocol based on a pool and capture method followed by high-throughput sequencing, which realizes a rapid, high-quality, high-accuracy and low-cost testing for mutations in BRCA1 and BRCA2 by using small amounts of input DNA...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28176879/parp-inhibitor-increases-chemosensitivity-by-upregulating-mir-664b-5p-in-brca1-mutated-triple-negative-breast-cancer
#20
Wei Song, Lin Tang, Yumei Xu, Jing Xu, Wenwen Zhang, Hui Xie, Shui Wang, Xiaoxiang Guan
Emerging evidence has shown that adding poly(ADP-ribose) polymerase (PARP) inhibitors to chemotherapy regimens is superior to the control regimens alone in BRCA1-mutated triple-negative breast cancer (TNBC) patients, but their underlying mechanisms have not been fully elucidated. In this study, using miRNA microarray analysis of two BRCA1-mutated TNBC cell lines, we found that miR-664b-5p expression was increased after adding a PARP inhibitor, olaparib, to a carboplatin (CBP) plus gemcitabine (GEM) therapy regimen...
February 8, 2017: Scientific Reports
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