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https://www.readbyqxmd.com/read/29054544/-abnormalities-of-dna-repair-and-gynecological-cancers
#1
REVIEW
Aurélie Auguste, Alexandra Leary
The demonstration of frequent defects in the DNA damage response in high grade ovarian cancer has paved the way for a new therapeutic approach aimed at exploiting this unique vulnerability. The efficacy of poly (ADP) ribose polymerase inhibitors (PARPi) in patients with homologous recombination (HR) DNA repair deficient ovarian cancer (OC) resulting from a BRCA1/2 mutation has provided the proof of concept for synthetic lethality. Thus, olaparib is now approved by the EMA as maintenance therapy after response to a platinum regimen for patients with recurrent, platinum-sensitive, high-grade serous, BRCA1/2-mutated ovarian cancer...
October 17, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29051491/fan1-interaction-with-ubiquitylated-pcna-alleviates-replication-stress-and-preserves-genomic-integrity-independently-of-brca2
#2
Antonio Porro, Matteo Berti, Julia Pizzolato, Serena Bologna, Svenja Kaden, Anja Saxer, Yue Ma, Kazuo Nagasawa, Alessandro A Sartori, Josef Jiricny
Interstrand cross-link (ICL) hypersensitivity is a characteristic trait of Fanconi anemia (FA). Although FANCD2-associated nuclease 1 (FAN1) contributes to ICL repair, FAN1 mutations predispose to karyomegalic interstitial nephritis (KIN) and cancer rather than to FA. Thus, the biological role of FAN1 remains unclear. Because fork stalling in FAN1-deficient cells causes chromosomal instability, we reasoned that the key function of FAN1 might lie in the processing of halted replication forks. Here, we show that FAN1 contains a previously-uncharacterized PCNA interacting peptide (PIP) motif that, together with its ubiquitin-binding zinc finger (UBZ) domain, helps recruit FAN1 to ubiquitylated PCNA accumulated at stalled forks...
October 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/29050072/-loss-of-brca-associated-protein-1-expression-in-malignant-mesothelioma-and-its-diagnostic-application
#3
Z Y Guo, W Y Sun, Y Michele, J L Zhang, D Hu, H N Su, W M Yang, Weimin Mao
Objective: To investigate the expression of BRCA-associated protein 1 (BAP1) in malignant mesothelioma, non-small cell lung cancer and carcinosarcoma, and its application in the differential diagnosis. Methods: Twenty-two cases of malignant mesothelioma including 17 epithelioid type, 2 sarcomatoid type and 3 biphasic type were collected.As the study control, 80 non-small cell lung cancers infringement pleural membrane(including 40 lung adenocarcinomas and 40 lung squamous cell carcinomas) and 15 carcinosarcomas were included...
October 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29047188/the-predictive-value-of-brca1-2-mrna-expression-for-response-to-neoadjuvant-chemotherapy-in-brca-negative-breast-cancers
#4
Ye Xu, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Yuntao Xie
It is well known that BRCA1 and BRCA2 play a central role in DNA repair, but the relationship between BRCA1 and BRCA2 mRNA expression and response to neoadjuvant chemotherapy in sporadic breast cancer patients has not been well established. Here, we investigate the association between BRCA1 or BRCA2 mRNA expression levels and pathological response in 674 BRCA1/2 mutation-negative breast cancer patients who received neoadjuvant chemotherapy. BRCA1and BRCA2 mRNA expression were assessed using quantitative real-time polymerase chain reaction in core biopsy breast cancer tissue obtained prior to the initiation of neoadjuvant chemotherapy...
October 19, 2017: Cancer Science
https://www.readbyqxmd.com/read/29045555/reproductive-potential-and-performance-of-fertility-preservation-strategies-in-brca-mutated-breast-cancer-patients
#5
M Lambertini, O Goldrat, A R Ferreira, J Dechene, H A Azim, J Desir, A Delbaere, M-D t'Kint de Roodenbeke, E de Azambuja, M Ignatiadis, I Demeestere
BackgroundPreclinical evidence suggests a possible negative impact of deleterious BRCA mutations on female fertility. However, limited and rather conflicting clinical data are available. This study assessed the reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients.Patients and MethodsThis was a retrospective analysis of two prospective studies investigating oocyte cryopreservation and ovarian tissue cryopreservation in newly diagnosed early breast cancer patients...
October 10, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29045554/veliparib-with-temozolomide-or-carboplatin-paclitaxel-versus-placebo-with-carboplatin-paclitaxel-in-patients-with-brca1-2-locally-recurrent-metastatic-breast-cancer-randomized-phase-ii-study
#6
H S Han, V Diéras, M Robson, M Palácová, P K Marcom, A Jager, I Bondarenko, D Citrin, M Campone, M L Telli, S M Domchek, M Friedlander, B Kaufman, J E Garber, Y Shparyk, E Chmielowska, E H Jakobsen, V Kaklamani, W Gradishar, C K Ratajczak, C Nickner, Q Qin, J Qian, S P Shepherd, S J Isakoff, S Puhalla
Background: Homologous recombination defects in BRCA1/2-mutated tumors result in sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors, which interfere with DNA damage repair. Veliparib, a potent PARP inhibitor, enhanced the antitumor activity of platinum agents and temozolomide in early phase clinical trials. This phase II study examined the safety and efficacy of intermittent veliparib with carboplatin/paclitaxel (VCP) or temozolomide (VT) in patients with BRCA1/2-mutated breast cancer...
September 29, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29044548/brca-mutations-in-women-with-inflammatory-breast-cancer
#7
Angelica M Gutierrez Barrera, Tamer M Fouad, Juhee Song, Rachel Webster, Nisreen Elsayegh, Anita L Wood, Atakan Demir, Jennifer K Litton, Naoto T Ueno, Banu K Arun
BACKGROUND: Inflammatory breast cancer (IBC) often affects women at a relatively young age. To the authors' knowledge, the rate of BRCA variants among patients with IBC is not known. To determine the association between BRCA status and IBC, the authors evaluated its rate and compared the clinicopathologic characteristics of patients with IBC with those of patients with other breast cancers (non-IBC). METHODS: Patients who presented at the study institution's cancer genetics program and who underwent BRCA genetic testing were included in the current study...
October 17, 2017: Cancer
https://www.readbyqxmd.com/read/29042365/ruxolitinib-induced-defects-in-dna-repair-cause-sensitivity-to-parp-inhibitors-in-myeloproliferative-neoplasms
#8
Margaret Nieborowska-Skorska, Silvia Maifrede, Yashodhara Dasgupta, Katherine Sullivan, Sylwia Flis, Bac Viet Le, Martyna Solecka, Elizaveta A Belyaeva, Lucia Kubovcakova, Morgan Nawrocki, Martin Kirschner, Huaqing Zhao, Josef T Prchal, Katarzyna Piwocka, Alison R Moliterno, Mariusz Wasik, Steffen Koschmieder, Tony R Green, Radek C Skoda, Tomasz Skorski
Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. Current treatment options for MPNs include cytoreduction by hydroxyurea and JAK1/2 inhibition by ruxolitinib, both of which are not curative. We show here that cell lines expressing JAK2(V617F), MPL(W515L) or CALR(del52) accumulated reactive oxygen species-induced DNA double-strand breaks (DSBs) and were modestly sensitive to poly-ADP-ribose polymerase (PARP) inhibitors olaparib and BMN673. At the same time primary MPN cell samples from individual patients displayed a high degree of variability in the sensitivity to these drugs...
October 17, 2017: Blood
https://www.readbyqxmd.com/read/29040190/novel-therapeutics-for-ovarian-cancer-the-11th-biennial-rivkin-center-ovarian-cancer-research-symposium
#9
Neil Johnson, John B Liao
OBJECTIVE: The aim of this study was to summarize developments in novel therapeutics for ovarian cancer presented at the Ovarian Cancer Research Symposium held at the University of Washington. METHODS: A symposium of the leaders in ovarian cancer research was convened to present and discuss current advances and future directions in ovarian cancer research. RESULTS: The fourth session was held on September 13, 2016, and focused on Novel Therapeutics for Ovarian Cancer...
October 17, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29040037/influence-of-risk-category-and-screening-round-on-the-performance-of-an-mr-imaging-and-mammography-screening-program-in-carriers-of-the-brca-mutation-and-other-women-at-increased-risk
#10
Suzan Vreemann, Albert Gubern-Mérida, Margrethe S Schlooz-Vries, Peter Bult, Carla H van Gils, Nicoline Hoogerbrugge, Nico Karssemeijer, Ritse M Mann
Purpose To evaluate the real-life performance of a breast cancer screening program for women with different categories of increased breast cancer risk with multiple follow-up rounds in an academic hospital with a large screening population. Materials and Methods Screening examinations (magnetic resonance [MR] imaging and mammography) for women at increased breast cancer risk (January 1, 2003, to January 1, 2014) were evaluated. Risk category, age, recall for workup of screening-detected abnormalities, biopsy, and histopathologic diagnosis were recorded...
October 16, 2017: Radiology
https://www.readbyqxmd.com/read/29038425/mre11-and-exo1-nucleases-degrade-reversed-forks-and-elicit-mus81-dependent-fork-rescue-in-brca2-deficient-cells
#11
Delphine Lemaçon, Jessica Jackson, Annabel Quinet, Joshua R Brickner, Shan Li, Stephanie Yazinski, Zhongsheng You, Grzegorz Ira, Lee Zou, Nima Mosammaparast, Alessandro Vindigni
The breast cancer susceptibility proteins BRCA1 and BRCA2 have emerged as key stabilizing factors for the maintenance of replication fork integrity following replication stress. In their absence, stalled replication forks are extensively degraded by the MRE11 nuclease, leading to chemotherapeutic sensitivity. Here we report that BRCA proteins prevent nucleolytic degradation by protecting replication forks that have undergone fork reversal upon drug treatment. The unprotected regressed arms of reversed forks are the entry point for MRE11 in BRCA-deficient cells...
October 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/29030030/oncological-safety-of-nipple-sparing-prophylactic-mastectomy-a-review-of-the-literature-on-3716-cases
#12
T Muller, A Baratte, C Bruant-Rodier, F Bodin, C Mathelin
INTRODUCTION: The objective of our study was to evaluate the risk of cancer after prophylactic nipple-sparing mastectomy (PNSM). MATERIAL AND METHODS: The PubMed database was consulted using the following key-words: "nipple-sparing mastectomy", "prophylactic", "locoregional recurrence", "oncological risk". Articles published between January 1995 and December 2016 were searched. RESULTS: Out of the 270 articles found, 19 were included. Overall, 15 studies were retrospective, 2 prospective, 2 prospective and retrospective and 3 were multicentric...
October 10, 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/29028552/risk-reducing-salpingo-oophorectomy-in-brca1-and-brca2-mutated-patients-an-evidence-based-approach-on-what-women-should-know
#13
REVIEW
F De Felice, C Marchetti, S M Boccia, A Romito, C M Sassu, M G Porpora, L Muzii, V Tombolini, P Benedetti Panici
This review is focused on the ovarian cancer risk reduction management in BRCA mutation carriers and is intended to assist with clinical decision-making. Obviously, treatment decisions must be based on the available evidence. Despite risk-reducing salpingo-oophorectomy is firmly recommended, several separate questions can be raised to address the variety of intense controversy of this approach. A special emphasis lies in the effective preventive surgical measure against ovarian cancer risk, in an attempt to detect the optimal timing and mitigate the impact on patients...
September 28, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29021715/the-clinicopathological-significance-of-ube2c-in-breast-cancer-a-study-based-on-immunohistochemistry-microarray-and-rna-sequencing-data
#14
Chao-Hua Mo, Li Gao, Xiao-Fei Zhu, Kang-Lai Wei, Jing-Jing Zeng, Gang Chen, Zhen-Bo Feng
BACKGROUND: Ubiquitin-conjugating enzyme E2C (UBE2C) has been previously reported to correlate with the malignant progression of various human cancers, however, the exact molecular function of UBE2C in breast carcinoma (BRCA) remained elusive. We aimed to investigate UBE2C expression in BRCA and its clinical significance. METHODS: The expression of UBE2C in 209 BRCA tissue samples and 53 adjacent normal tissue samples was detected using immunohistochemistry. The clinical role of UBE2C was analyzed...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/29020822/trabectedin-mechanism-of-action-and-platinum-resistance-molecular-rationale
#15
Isabelle Ray-Coquard
Trabectedin presents a complex mode of action affecting key cell biology processes in tumor cells and in the tumor microenvironment. In ovarian cancer patients with a platinum treatment-free interval of 6-12 months treated with trabectedin + pegylated liposomal doxorubicin (PLD) or single-agent PLD, and retreated with platinum after relapse, overall survival was significantly prolonged in the trabectedin + PLD group. Mechanisms by which trabectedin restores tumor sensitivity to platinum include its interaction with components of the nucleotide excision repair machinery in tumor cells and inhibition of inflammatory mediators such as IL-6 in the tumor microenvironment...
October 11, 2017: Future Oncology
https://www.readbyqxmd.com/read/29020819/update-on-relapsed-ovarian-cancer-treatment-from-new-consensus-to-daily-clinical-practice
#16
Antonio González-Martín
The outcome of the 5th Ovarian Cancer Consensus Conference (OCCC) held in November 2015 in Tokyo, Japan, was the development of new and revised consensus statements to guide clinical investigations in ovarian cancer. The OCCC statements may also have direct application to daily clinical practice. This review examines the consensus statements for recurrent ovarian cancer and their impact on treatment paradigms. Importantly, patients are no longer to be categorized by the platinum-free interval (with its arbitrary 6-month cut-off points) but according to the question: 'is platinum still an option for the patient?' Another important change since the 4th OCCC in 2010 is the inclusion of BRCA mutation status when defining patient subgroups for entry into clinical trials...
October 11, 2017: Future Oncology
https://www.readbyqxmd.com/read/29019095/cost-effectiveness-of-surveillance-and-prevention-strategies-in-brca1-2-mutation-carriers
#17
Hideko Yamauchi, Chizuko Nakagawa, Makoto Kobayashi, Yusuke Kobayashi, Toshiki Mano, Seigo Nakamura, Masami Arai
BACKGROUND: Cost-effectiveness analysis is an important aspect of healthcare, including in Japan, where preventive measures for BRCA1/2 mutation carriers are not covered by health insurance. METHODS: We developed Markov models in a simulated cohort of women aged 35-70 years, and compared outcomes of surveillance with risk-reducing mastectomy (RRM) at age 35, risk-reducing salpingo-oophorectomy (RRSO) at age 45, and both (RRM&RRSO). We used breast and ovarian cancer incidences and adverse event rates from the previous studies, adjuvant chemotherapy, and hormonal therapy rates from the Hereditary Breast and Ovarian Cancer Registration 2015 in Japan, mortality rates from the National Cancer Center Hospital, Japan Society of Clinical Oncology, and Ministry of Health, Labour and Welfare, and direct costs from St...
October 10, 2017: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/28992861/screening-for-recurrence-and-secondary-cancers
#18
REVIEW
Jillian L Simard, Sheetal M Kircher, Aarati Didwania, Mita Sanghavi Goel
The population of adult cancer survivors is increasing over time and they are at risk of developing recurrent and secondary cancers, even years after completion of treatment. Post-treatment care of survivors is increasingly the responsibility of primary care providers. Surveillance for recurrence and screening for secondary malignancies related to treatment depend largely on the primary malignancy, treatment regimen, and presence of a hereditary cancer syndrome, such as a BRCA mutation. This article presents surveillance strategies for the most common malignancies...
November 2017: Medical Clinics of North America
https://www.readbyqxmd.com/read/28990063/bioinformatics-analysis-of-gene-expression-data-for-the-identification-of-critical-genes-in-breast-invasive-carcinoma
#19
Yi Li, Yongsheng Wang
Gene expression data were analyzed in order to identify critical genes in breast invasive carcinoma (BRCA). Data from 1,073 BRCA samples and 99 normal samples were analyzed, which were obtained from The Cancer Genome Atlas. Differentially expressed genes (DEGs) were identified using the significance analysis of microarrays method and a functional enrichment analysis was performed using the Database for Annotation, Visualization and Integrated Discovery. Relevant microRNAs (miRNAs), transcription factors (TFs) and associated small molecule drugs were revealed by Fisher's exact test...
October 4, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28989926/brca1-mutated-ovarian-cancer-with-skin-metastasis-a-case-report
#20
So Ra Oh, Jung-Woo Park, Hyun Young Kwon, Seo-Hee Rha
The major risk factor for ovarian cancer (OC) is mutation of the BRCA1 or BRCA2 DNA mismatch repair genes, which occurs in approximately 10% of OC cases. Most previous studies have demonstrated that BRCA1- and BRCA2-mutated OCs are associated with better prognosis than sporadic OCs. However, information about the patterns and clinical course of the metastatic spread of BRCA-mutated OCs is limited. Herein, we describe a case of OC with a BRCA1 mutation and skin metastases in a 49-year-old patient, which to the best of our knowledge has not been reported previously...
September 2017: Obstetrics & Gynecology Science
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