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Brca1 and brca2

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https://www.readbyqxmd.com/read/28815456/recommendations-for-biomarker-testing-in-epithelial-ovarian-cancer-a-national-consensus-statement-by-the-spanish-society-of-pathology-and-the-spanish-society-of-medical-oncology
#1
A Oaknin, R Guarch, P Barretina, D Hardisson, A González, X Matías-Guiu, A Pérez-Fidalgo, B Vieites, I Romero, J Palacios
Because of advances in the understanding of histological and molecular characteristics in ovarian cancer, it is now possible to recognize the existence of five subtypes, which in turn has allowed a more refined therapeutic approach and better design of clinical trials. Each of these five subtypes has specific histological features and a particular biomarker expression, as well as mutations in different genes, some of which have prognostic and predictive value. CA125 and HE4 are examples of ovarian cancer biomarkers used in the diagnosis and follow-up of these malignancies...
August 16, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28812325/ambiguity-in-a-masculine-world-being-a-brca1-2-mutation-carrier-and-a-man-with-prostate-cancer
#2
C Moynihan, E K Bancroft, A Mitra, A Ardern-Jones, E Castro, E C Page, R A Eeles
BACKGROUND: Increased risk of prostate cancer(PCa) is observed in men with BRCA1/BRCA2 mutations. Sex and gender are key determinants of health and disease although unequal care exists between the sexes. Stereotypical male attitudes are shown to lead to poor health outcomes. METHODS: Men with BRCA1/2 mutations and diagnosed with PCa were identified and invited to participate in a qualitative interview study. Data were analysed using a Framework approach. 'Masculinity theory' was used to report the impact of having both a BRCA1/2 mutation and PCa...
August 15, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28810532/plga-ctab-curcumin-nanoparticles-fabrication-characterization-and-molecular-basis-of-anticancer-activity-in-triple-negative-breast-cancer-cell-lines-mda-mb-231-cells
#3
Ramovatar Meena, Sumit Kumar, Raj Kumar, Usha Singh Gaharwar, Paulraj Rajamani
Triple-negative breast cancers (TNBC) are aggressive cancers, which do not control by hormonal therapy or therapies that target HER-2 receptors. Curcumin (Cur) has shown cytotoxic effects in multiple cancer cell lines. However, its medical uses remain limited due to low aqueous solubility and poor bioavailability. Therefore, present study was aimed to fabricate the small positive charge curcumin nanoparticles (CN) by nanoprecipitation methods using PLGA and CTAB, and to evaluate its anticancer efficacy and underlying the mechanism in triple negative breast cancer cell lines (MDA-MB-231 cells)...
August 11, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28802254/tdp1-is-critical-for-the-repair-of-dna-breaks-induced-by-sapacitabine-a-nucleoside-also-targeting-atm-and-brca-deficient-tumors
#4
Muthana Al Abo, Hiroyuki Sasanuma, Xiaojun Liu, Vinodh N Rajapakse, Shar-Yin N Huang, Evgeny Kiselev, Shunichi Takeda, William Plunkett, Yves Pommier
2'-C-cyano-2'-deoxy-1-β-D-arabino-pentofuranosylcytosine (CNDAC) is the active metabolite of the anticancer drug, sapacitabine. CNDAC is incorporated into the genome during DNA replication and subsequently undergoes beta-elimination that generates single-strand breaks with abnormal 3'-ends. Because tyrosyl-DNA phosphodiesterase 1 (TDP1) selectively hydrolyzes non-phosphorylated 3'-blocking ends, we tested its role in the repair of CNDAC-induced DNA damage. We show that cells lacking TDP1 (avian TDP1-/- DT40 cells and human TDP1 KO TSCER2 and HCT116 cells) exhibit marked hypersensitivity to CNDAC...
August 11, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28802188/risk-of-uterine-cancer-for-brca1-and-brca2-mutation-carriers
#5
Y C Lee, R L Milne, S Lheureux, M Friedlander, S A McLachlan, K L Martin, M Q Bernardini, C Smith, S Picken, S Nesci, J L Hopper, K A Phillips
BACKGROUND: Whether BRCA1 and BRCA2 mutation carriers have a clinically relevant elevated risk of uterine cancer has implications for risk-reducing surgery. AIM: This multicentre, prospective cohort study assessed uterine cancer risk for mutation carriers compared with the general population. METHODS: Eligible mutation carriers were enrolled in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) cohort study, had a uterus present and no history of uterine cancer at cohort entry...
August 9, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28802053/gene-panel-testing-of-breast-and-ovarian-cancer-patients-identifies-a-recurrent-rad51c-duplication
#6
Liisa M Pelttari, Hermela Shimelis, Heidi Toiminen, Anders Kvist, Therese Törngren, Åke Borg, Carl Blomqvist, Ralf Bützow, Fergus Couch, Kristiina Aittomäki, Heli Nevanlinna
Gene-panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high-risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene-panel sequencing including also CNV analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18/95 patients (19%)...
August 12, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28796549/association-of-brca-mutation-types-imaging-features-and-pathologic-findings-in-patients-with-breast-cancer-with-brca1-and-brca2-mutations
#7
Su Min Ha, Eun Young Chae, Joo Hee Cha, Hak Hee Kim, Hee Jung Shin, Woo Jung Choi
OBJECTIVE: The purpose of this study is to retrospectively evaluate the relationships between the BRCA mutation types, imaging features, and pathologic findings of breast cancers in BRCA1 and BRCA2 mutation carriers. MATERIALS AND METHODS: We identified patients with breast cancer with BRCA gene mutations from January 2000 to December 2014. After excluding patients who underwent lesion excision before MRI, 99 BRCA1 and 103 BRCA2 lesions in 187 women (mean age, 39...
August 10, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28796317/mutation-status-of-rad51c-palb2-and-brip1-in-100-japanese-familial-breast-cancer-cases-without-brca1-and-brca2-mutations
#8
Katsutoshi Sato, Mio Koyasu, Sachio Nomura, Yuri Sato, Mizuho Kita, Yuumi Ashihara, Yasue Adachi, Shinji Ohno, Takuji Iwase, Dai Kitagawa, Eri Nakashima, Reiko Yoshida, Yoshio Miki, Masami Arai
In addition to BRCA1 and BRCA2, RAD51C, PALB2, and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not been evaluated yet. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C, PALB2, and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without BRCA1 and BRCA2 mutations. We detected a large deletion from exon 6 to 9 in RAD51C, 4 novel BRIP1 missense variants containing 3 novel non-synonymous variants, c...
August 10, 2017: Cancer Science
https://www.readbyqxmd.com/read/28789927/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#9
Byron H Lee
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 5, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28782087/germline-brca-mutations-in-asian-patients-with-pancreatic-adenocarcinoma-a-prospective-study-evaluating-risk-category-for-genetic-testing
#10
Kyoungmin Lee, Changhoon Yoo, Kyu-Pyo Kim, Kyoung-Jin Park, Heung-Moon Chang, Tae Won Kim, Jae-Lyun Lee, Woochang Lee, Sang Soo Lee, Do Hyun Park, Tae Jun Song, Dong Wan Seo, Sung Koo Lee, Myung-Hwan Kim, Sang Hyun Shin, Dae Wook Hwang, Ki Byung Song, Jae Hoon Lee, Song Cheol Kim, Baek-Yeol Ryoo
Introduction Germline BRCA mutations may have therapeutic implications as surrogate markers of DNA-damage repair status in pancreatic ductal adenocarcinoma (PDAC). We performed a prospective study to evaluate the efficiency of risk criteria based on personal or family history of breast and ovarian cancer for determining germline BRCA mutations in PDAC patients with Asian ethnicity. Methods Between November 2015 and May 2016, we screened consecutive PDAC patients with locally advanced unresectable or metastatic disease who were referred for systemic chemotherapy...
August 7, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28782058/consistency-of-brca1-and-brca2-variant-classifications-among-clinical-diagnostic-laboratories
#11
Stephen E Lincoln, Shan Yang, Melissa S Cline, Yuya Kobayashi, Can Zhang, Scott Topper, David Haussler, Benedict Paten, Robert L Nussbaum
BACKGROUND: Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic (disease-causing) is sometimes challenging and can potentially be inconsistent among laboratories. The ClinVar database makes de-identified clinical variant classifications from multiple laboratories publicly available for comparison and review, per recommendations of the American Medical Association (AMA), the American College of Medical Genetics (ACMG), the National Society for Genetic Counselors (NSGC), and other organizations...
July 2017: JCO Precis Oncol
https://www.readbyqxmd.com/read/28780755/when-to-consider-risk-reducing-mastectomy-in-brca1-brca2-mutation-carriers-with-advanced-stage-ovarian-cancer-a-case-study-illustrating-the-genetic-counseling-challenges
#12
Beverley Speight, Marc Tischkowitz
Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic counseling about BRCA1-associated breast cancer risk in the three years following diagnosis. The report centers on the patient's enquiry about risk-reducing breast surgery. We focus on the challenges for health professionals and patients in understanding and balancing the risks and benefits of major prophylactic surgery in the context of a potentially life-limiting cancer diagnosis...
August 5, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28770827/discovery-of-potent-2-4-difluoro-linker-poly-adp-ribose-polymerase-1-inhibitors-with-enhanced-water-solubility-and-in-vivo-anticancer-efficacy
#13
Wen-Hua Chen, Shan-Shan Song, Ming-Hui Qi, Xia-Juan Huan, Ying-Qing Wang, Hualiang Jiang, Jian Ding, Guo-Bin Ren, Ze-Hong Miao, Jian Li
Poly (ADP-ribose) polymerase 1 (PARP1) is overexpressed in a variety of cancers, especially in breast and ovarian cancers; tumor cells that are deficient in breast cancer gene 1/2 (BRCA1/2) are highly sensitive to PARP1 inhibition. In this study, we identified a series of 2,4-difluorophenyl-linker analogs (15-55) derived from olaparib as novel PARP1 inhibitors. Four potent analogs 17, 43, 47, and 50 (IC50=2.2-4.4 nmol/L) effectively inhibited the proliferation of Chinese hamster lung fibroblast V-C8 cells (IC50=3...
August 3, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28767289/deleterious-germline-mutations-in-patients-with-apparently-sporadic-pancreatic-adenocarcinoma
#14
Koji Shindo, Jun Yu, Masaya Suenaga, Shahriar Fesharakizadeh, Christy Cho, Anne Macgregor-Das, Abdulrehman Siddiqui, P Dane Witmer, Koji Tamura, Tae Jun Song, Jose Alejandro Navarro Almario, Aaron Brant, Michael Borges, Madeline Ford, Thomas Barkley, Jin He, Matthew J Weiss, Christopher L Wolfgang, Nicholas J Roberts, Ralph H Hruban, Alison P Klein, Michael Goggins
Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and are well documented in families in which multiple members have had pancreatic cancer. Methods To define the prevalence of these germline mutations in patients with apparently sporadic pancreatic cancer, we sequenced 32 genes, including known pancreatic cancer susceptibility genes, in DNA prepared from normal tissue obtained from 854 patients with pancreatic ductal adenocarcinoma, 288 patients with other pancreatic and periampullary neoplasms, and 51 patients with non-neoplastic diseases who underwent pancreatic resection at Johns Hopkins Hospital between 2000 and 2015...
August 2, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28766224/clinical-decision-making-in-patients-with-variant-of-uncertain-significance-in-brca1-or-brca2-genes
#15
Jessemae L Welsh, Tanya L Hoskin, Courtney N Day, Abigail S Thomas, Jodie A Cogswell, Fergus J Couch, Judy C Boughey
BACKGROUND: How diagnosis with a variant of uncertain significance (VUS) in a BRCA gene impacts clinical decision-making is not well known. METHODS: We queried for all patients attending Mayo Clinic Rochester from 2004 to 2016 who tested positive for BRCA1 or BRCA2 VUS and reviewed patient management choices. Groups were compared by using Wilcoxon rank-sum and Chi-square tests. RESULTS: We identified 97 patients (95 females, 2 males) with BRCA VUS...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28766223/differences-among-a-modern-cohort-of-brca-mutation-carriers-choosing-bilateral-prophylactic-mastectomies-compared-to-breast-surveillance
#16
Elizabeth Gilbert, Emily C Zabor, Michelle Stempel, Debra Mangino, Alexandra Heerdt, Melissa Pilewskie
BACKGROUND: Women with a BRCA mutation have significantly elevated breast cancer risk, which can be reduced by >90% with bilateral prophylactic mastectomy (BPM). We sought to compare a cohort of BRCA mutation carriers choosing BPM versus breast surveillance to better elucidate factors that may impact decision making. METHODS: Women with a BRCA mutation were retrospectively identified from a prospectively maintained database. The surveillance cohort (n = 313) consisted of women seen in a high-risk clinic between 2014 and 2016, while the surgery cohort (n = 142) consisted of women who underwent BPM between 2010 and 2016...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28765858/history-development-and-future-of-cancer-screening-in-australia
#17
Ian N Olver, David Roder
INTRODUCTION: The aim of screening an asymptomatic population for cancer is to achieve better health outcomes, particularly a population survival benefit. Australia has three population screening programs: the National Cervical Screening Program (NCSP), BreastScreen Australia and the National Bowel Cancer Screening Program (NBCSP). METHODS: We reviewed the history and development of the three programs. NCSP: Women have a Pap smear every 2 years from age 18-20, or 2 years after first becoming sexually active, until age 69...
July 26, 2017: Public Health Research & Practice
https://www.readbyqxmd.com/read/28765325/diverse-brca1-and-brca2-reversion-mutations-in-circulating-cell-free-dna-of-therapy-resistant-breast-or-ovarian-cancer
#18
Britta Weigelt, Iñaki Comino-Méndez, Ino de Bruijn, Lei Tian, Jane L Meisel, Isaac Garcia-Murillas, Charlotte Fribbens, Ros Cutts, Luciano G Martelotto, Charlotte K Y Ng, Raymond S Lim, Pier Selenica, Salvatore Piscuoglio, Carol Aghajanian, Larry Norton, Rajmohan Murali, David M Hyman, Laetitia Borsu, Maria E Arcila, Jason Konner, Jorge S Reis-Filho, Roger A Greenberg, Mark Robson, Nicholas C Turner
Purpose: Resistance to platinum-based chemotherapy or PARP inhibition in germline BRCA1 or BRCA2 mutation carriers may occur through somatic reversion mutations or intragenic deletions that restore BRCA1 or BRCA2 function. We assessed whether BRCA1/2 reversion mutations could be identified in circulating cell-free DNA (cfDNA) of ovarian or breast cancer patients previously treated with platinum and/or PARP inhibitors. <p>Experimental Design: cfDNA from 24 prospectively accrued BRCA1- or BRCA2-germline mutant patients, including 19 platinum-resistant/refractory ovarian cancer and five platinum and/or PARP inhibitor pre-treated metastatic breast cancer patients, was subjected to massively parallel sequencing targeting all exons of 141 genes and all exons and introns of BRCA1 and BRCA2 Functional studies were performed to assess the impact of the putative BRCA1/2 reversion mutations on BRCA1/2 function...
August 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28761624/pitaya-extracts-induce-growth-inhibition-and-proapoptotic-effects-on-human-cell-lines-of-breast-cancer-via-downregulation-of-estrogen-receptor-gene-expression
#19
Deborah de Almeida Bauer Guimarães, Danielle Dos Santos Bonfim De Castro, Felipe Leite de Oliveira, Eduardo Matos Nogueira, Marco Antônio Mota da Silva, Anderson Junger Teodoro
Breast cancer is one of the most prevalent cancers in the world and is also the leading cause of cancer death in women. The use of bioactive compounds of functional foods contributes to reduce the risk of chronic diseases, such as cancer and vascular disorders. In this study, we evaluated the antioxidant potential and the influence of pitaya extract (PE) on cell viability, colony formation, cell cycle, apoptosis, and expression of BRCA1, BRCA2, PRAB, and Erα in breast cancer cell lines (MCF-7 and MDA-MB-435)...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28758101/brca-population-screening-for-predicting-breast-cancer-for-or-against
#20
Giuseppe Lippi, Camilla Mattiuzzi, Martina Montagnana
The pathogenesis of breast cancer, the most frequent female malignancy, entails both genetic and acquired risk factors. Among the various oncogenetic mutations, those involving the BReast Cancer 1 (BRCA1) and BReast Cancer 2 (BRCA2) genes are associated with an extremely high risk of developing breast cancer, with a penetration approximating 70% in women with a positive family history for this malignancy. This important evidence elicits some pragmatic considerations, such as the clinical effectiveness of screening for the most penetrant BRCA mutations in women with or without a positive familial history, but also raises important issues related to the most appropriate clinical management of these patients...
July 2017: Annals of Translational Medicine
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