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https://www.readbyqxmd.com/read/29470806/screening-of-over-1000-indian-patients-with-breast-and-or-ovarian-cancer-with-a-multi-gene-panel-prevalence-of-brca1-2-and-non-brca-mutations
#1
Jaya Singh, Nishita Thota, Suhasini Singh, Shila Padhi, Puja Mohan, Shivani Deshwal, Soumit Sur, Mithua Ghosh, Amit Agarwal, Ramesh Sarin, Rosina Ahmed, Sachin Almel, Basumita Chakraborti, Vinod Raina, Praveen K DadiReddy, B K Smruti, Senthil Rajappa, Chandragouda Dodagoudar, Shyam Aggarwal, Manish Singhal, Ashish Joshi, Rajeev Kumar, Ajai Kumar, Deepak K Mishra, Neeraj Arora, Aarati Karaba, Satish Sankaran, Shanmukh Katragadda, Arunabha Ghosh, Vamsi Veeramachaneni, Ramesh Hariharan, Ashraf U Mannan
PURPOSE: Breast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized. METHODS: We sequenced 1010 unrelated patients and families from across India with an indication of breast and/or ovarian cancers, using the TruSight Cancer panel which includes 14 genes, strongly associated with risk of hereditary breast and/or ovarian cancers...
February 22, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29470805/adjuvant-versus-neoadjuvant-chemotherapy-in-triple-negative-breast-cancer-patients-with-brca-mutations
#2
Katherine Clifton, Angelica Gutierrez-Barrera, Junsheng Ma, Roland Bassett, Jennifer Litton, Henry Kuerer, Stacy Moulder, Constance Albarracin, Gabriel Hortobagyi, Banu Arun
PURPOSE: As triple-negative breast cancers are associated with earlier recurrences and poorer survival, optimal treatment of early-stage breast cancer is essential. Several retrospective studies in triple-negative breast cancer have reported conflicting results in overall survival in patients receiving neoadjuvant or adjuvant systemic therapy. This study aims to analyze outcomes of adjuvant versus neoadjuvant in patients with early-stage triple-negative breast cancer with and without BRCA germline mutations...
February 22, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29468855/major-clinical-research-advances-in-gynecologic-cancer-in-2017
#3
REVIEW
Dong Hoon Suh, Miseon Kim, Kyung Hun Lee, Keun Yong Eom, Maj Kamille Kjeldsen, Mansoor Raza Mirza, Jae Weon Kim
In 2017, 10 topics were selected as major clinical research advances in gynecologic oncology. For cervical cancer, efficacy and safety analysis results of a 9-valent human papillomavirus (HPV) vaccine and long-term impact of reduced dose of quadrivalent vaccine were updated. Brief introduction of KEYNOTE trials of pembrolizumab, a monoclonal antibody that blocks the interaction between programmed death (PD)-1 and its ligands, PD-L1 and PD-L2, followed. Tailored surveillance programs for gynecologic cancer related with Lynch syndrome and update on sentinel lymph node mapping were reviewed for uterine corpus cancer...
March 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29466291/recommendations-and-choices-for-brca-mutation-carriers-at-risk-for-ovarian-cancer-a-complicated-decision
#4
REVIEW
Kelsey E Lewis, Karen H Lu, Amber M Klimczak, Samuel C Mok
Current ovarian cancer screening guidelines in high-risk women vary according to different organizations. Risk reducing surgery remains the gold standard for definitive treatment in BRCA mutation carriers, but research advancements have created more short-term options for patients to consider. The decisions involved in how a woman manages her BRCA mutation status can cause a great deal of stress and worry due to the imperfect therapy options. The goal of this review was to critically analyze the screening recommendations and alternative options for high-risk ovarian cancer patients and evaluate how these discrepancies and choices affect a woman's management decisions...
February 21, 2018: Cancers
https://www.readbyqxmd.com/read/29464864/inferences-of-individual-drug-responses-across-diverse-cancer-types-using-a-novel-competing-endogenous-rna-network
#5
Yan Zhang, Xin Li, Dianshuang Zhou, Hui Zhi, Peng Wang, Yue Gao, Maoni Guo, Ming Yue, Yanxia Wang, Weitao Shen, Shangwei Ning, Yixue Li, Xia Li
Differences in individual drug responses is an obstacle to progression in cancer treatment, and predicting responses would help to plan treatment. The accumulation of cancer molecular profiling and drug response data provides opportunities and challenges to identify novel molecular signatures and mechanisms of tumor responsiveness to drugs. This study evaluated drug responses with a competing endogenous RNA (ceRNA) system that depended on competition between diverse RNA species. We identified drug response-related ceRNAs (DRCEs) by combining the sequence and expression data of long noncoding RNAs (lncRNAs), microRNAs (miRNAs) and messenger RNAs (mRNAs) and the survival data of cancer patients treated with drugs...
February 21, 2018: Molecular Oncology
https://www.readbyqxmd.com/read/29459887/role-of-brca-mutations-in-the-modulation-of-response-to-platinum-therapy
#6
REVIEW
Sanghamitra Mylavarapu, Asmita Das, Monideepa Roy
Recent years have seen cancer emerge as one of the leading cause of mortality worldwide with breast cancer being the second most common cause of death among women. Individuals harboring BRCA mutations are at a higher risk of developing breast and/or ovarian cancers. This risk is much greater in the presence of germline mutations. BRCA1 and BRCA2 play crucial role in the DNA damage response and repair pathway, a function that is critical in preserving the integrity of the genome. Mutations that interfere with normal cellular function of BRCA not only lead to onset and progression of cancer but also modulate therapy outcome of treatment with platinum drugs...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29456469/prophylactic-surgery-for-whom-when-and-how
#7
REVIEW
Christine Mau, Michael Untch
Risk-reducing surgery has proved to be a reasonable procedure in healthy women with a definitely elevated risk of developing cancer. Here we consider the elevated risk of breast and ovarian cancer. There is a clear indication for such surgery in healthy women with a pathogenic BRCA1/2 mutation. For these patients, a risk-reducing bilateral mastectomy leads to a verifiable reduction in mortality from breast cancer, particularly for young patients. In most cases, surgery is combined with breast reconstruction...
December 2017: Breast Care
https://www.readbyqxmd.com/read/29447163/paternal-lineage-early-onset-hereditary-ovarian-cancers-a-familial-ovarian-cancer-registry-study
#8
Kevin H Eng, J Brian Szender, John Lewis Etter, Jasmine Kaur, Samantha Poblete, Ruea-Yea Huang, Qianqian Zhu, Katherine A Grzesik, Sebastiano Battaglia, Rikki Cannioto, John J Krolewski, Emese Zsiros, Peter J Frederick, Shashikant B Lele, Kirsten B Moysich, Kunle O Odunsi
Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant evidenced by transmission to a woman from her paternal grandmother via her father. We ascertained 3,499 grandmother/granddaughter pairs from the Familial Ovarian Cancer Registry at the Roswell Park Cancer Institute observing 892 informative pairs with 157 affected granddaughters. We performed germline X-chromosome exome sequencing on 186 women with ovarian cancer from the registry...
February 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29441441/comparison-of-practice-guidelines-brcapro-and-genetic-counselor-estimates-to-identify-germline-brca1-and-brca2-mutations-in-pancreatic-cancer
#9
Robert C Grant, Spring Holter, Ayelet Borgida, Neesha C Dhani, David W Hedley, Jennifer J Knox, Mohammad R Akbari, George Zogopoulos, Steven Gallinger
Germline BRCA1 and BRCA2 (BRCA) mutation carriers with pancreatic ductal adenocarcinoma (PDAC) may benefit from precision therapies and their relatives should undergo tailored cancer prevention. In this study, we compared strategies to identify BRCA carriers with PDAC. Incident cases of PDAC were prospectively recruited for BRCA sequencing. Probands were evaluated using the National Comprehensive Cancer Network (NCCN) and the Ontario Ministry of Health and Long-Term Care (MOHLTC) guidelines. The probability of each proband carrying a mutation was estimated by surveying genetic counselors and using BRCAPRO...
February 13, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29439820/germline-dna-repair-gene-mutations-and-outcomes-in-men-with-metastatic-castration-resistant-prostate-cancer-receiving-first-line-abiraterone-and-enzalutamide
#10
Emmanuel S Antonarakis, Changxue Lu, Brandon Luber, Chao Liang, Hao Wang, Yan Chen, John L Silberstein, Danilo Piana, Zhao Lai, Yidong Chen, William B Isaacs, Jun Luo
BACKGROUND: Inherited DNA-repair gene mutations are more prevalent in men with advanced prostate cancer than previously thought, but their clinical implications are not fully understood. OBJECTIVE: To investigate the clinical significance of germline DNA-repair gene alterations in men with metastatic castration-resistant prostate cancer (mCRPC) receiving next-generation hormonal therapy (NHT), with a particular emphasis on BRCA/ATM mutations. DESIGN, SETTING, AND PARTICIPANTS: We interrogated 50 genes for pathogenic or likely pathogenic germline mutations using leukocyte DNA from 172 mCRPC patients beginning treatment with first-line NHT with abiraterone or enzalutamide...
February 10, 2018: European Urology
https://www.readbyqxmd.com/read/29433453/male-brca-mutation-carriers-clinical-characteristics-and-cancer-spectrum
#11
Mohammed Ibrahim, Siddhartha Yadav, Foluso Ogunleye, Dana Zakalik
BACKGROUND: Mutations in BRCA1 and BRCA2 (BRCA1/2) genes are associated with an increased risk of breast and ovarian cancers in women. The cancer characteristics of men with BRCA1/2 mutations are less well studied. This study describes the unique cancer characteristics of male BRCA1/2 mutation carriers at our institution. METHODS: We performed a retrospective chart review on male patients who were seen between January 2004 and December 2014 and tested positive for a BRCA1/2 mutation...
February 13, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29431530/does-oophorectomy-reduce-breast-cancer-mortality-for-brca-mutation-carriers-after-breast-cancer
#12
Michelle Jacobson, Steven A Narod
No abstract text is available yet for this article.
February 12, 2018: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29429842/trabectedin-in-ovarian-cancer-is-it-now-a-standard-of-care
#13
J Ventriglia, I Paciolla, S C Cecere, C Pisano, M Di Napoli, L Arenare, S V Setola, N S Losito, D Califano, M Orditura, S Pignata
In patients with recurrent ovarian cancer, the choice of second-line therapy is complex. Several factors have to be considered, such as platinum-free interval (PFI), residual toxicity from the previous treatments, BRCA1/2 gene mutation status. Trebectedin is a minor groove DNA binder derived from a marine organism that has shown efficacy in different settings in ovarian cancer therapy. It has been approved in the treatment of partially platinum sensitive (PPS) (PFI between 6 and 12 months) relapsed ovarian cancer according to the statistically significant progression-free survival (7...
February 8, 2018: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29429041/an-iphone-application-intervention-to-promote-surveillance-among-women-with-a-brca-mutation-pre-intervention-data
#14
Stephanie A Cohen, Courtney Lynam Scherr, Dawn M Nixon
Women with BRCA mutations, at significantly increased risk for breast and ovarian cancer, do not consistently adhere to management guidelines due to lack of awareness and challenges tracking appointments. We developed an iPhone application (app) to help BRCA carriers manage their surveillance. We explored baseline awareness and adherence to surveillance guidelines and analytic data from 21 months of app use. Descriptive statistics were calculated on responses (N = 86) to a survey about surveillance awareness and practices...
February 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29428039/rationale-for-mastectomy-after-neoadjuvant-chemotherapy
#15
Lejla Hadzikadic Gusic, Kendall Walsh, Teresa Flippo-Morton, Terry Sarantou, Danielle Boselli, Richard L White
Neoadjuvant chemotherapy (NAC) reduces tumor size, facilitating the use of breast conservation surgery (BCS). However, mastectomy remains the surgical outcome for certain women. The goal of this study was to determine the rationale for mastectomy after NAC, particularly in women eligible for BCS. Retrospective data were reviewed on patients who received NAC between February 2006 and August 2010 at our institution. Demographics and tumor characteristics were compared between patients who received BCS and mastectomy after NAC...
January 1, 2018: American Surgeon
https://www.readbyqxmd.com/read/29423568/a-two-phase-approach-to-developing-snap-an-iphone-application-to-support-appointment-scheduling-and-management-for-women-with-a-brca-mutation
#16
Courtney Lynam Scherr, Jessica L Feuston, Dawn M Nixon, Stephanie A Cohen
Professional organizations provide surveillance guidelines for BRCA1 and BRCA2 (BRCA) carriers with intact breasts and/or ovaries to facilitate early cancer detection. However, literature indicates adherence to surveillance guidelines is inconsistent at best. Using the Messaging Model for Health Communication Campaigns framework, we undertook a two-phase formative research approach to develop an intervention to promote adherence to surveillance guidelines. Discussion groups identified preferred intervention format and function in phase I...
February 8, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29422346/bone-loss-in-women-with-brca1-and-brca2-mutations
#17
C Bethan Powell, Amy Alabaster, Nicole Stoller, Mary Anne Armstrong, Chelsea Salyer, Isabella Hamilton, Tina Raine-Bennett
OBJECTIVE: Estimate the prevalence and identify risk factors for bone loss in women with BRCA mutations. METHODS: Women, age 40 and older, with BRCA mutations identified from the Breast Cancer Surveillance database at Kaiser Permanente Northern California were invited to participate and undergo a dual-energy x-ray absorptiometry scan to assess for bone loss (osteopenia or osteoporosis). Multivariable logistic regression analysis was performed to assess clinical factors associated with bone loss...
February 5, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29416040/bre-brcc45-regulates-cdc25a-stability-by-recruiting-usp7-in-response-to-dna-damage
#18
Kajal Biswas, Subha Philip, Aditya Yadav, Betty K Martin, Sandra Burkett, Vaibhav Singh, Anav Babbar, Susan Lynn North, Suhwan Chang, Shyam K Sharan
BRCA2 is essential for maintaining genomic integrity. BRCA2-deficient primary cells are either not viable or exhibit severe proliferation defects. Yet, BRCA2 deficiency contributes to tumorigenesis. It is believed that mutations in genes such as TRP53 allow BRCA2 heterozygous cells to overcome growth arrest when they undergo loss of heterozygosity. Here, we report the use of an insertional mutagenesis screen to identify a role for BRE (Brain and Reproductive organ Expressed, also known as BRCC45), known to be a part of the BRCA1-DNA damage sensing complex, in the survival of BRCA2-deficient mouse ES cells...
February 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/29414664/glmeemsal-epitope-common-in-different-isoforms-of-hmena-elicits-in-vitro-activation-of-cytotoxic-t-cells-and-stimulates-specific-antitumor-immunity-in-balb-c-mice
#19
Christian Azucena Don-López, Alberto Monroy-García, Benny Weiss-Steider, Leticia Rocha-Zavaleta, Jorge Hernández-Montes, Rosario García-Rocha, María de Lourdes Mora-García
BACKGROUND: Alternative expression of human ortholog of murine Mena (hMena) hMena/hMena11a and hMena/hMenaΔv6 isoforms regulate the invasiveness and metastatic potential of tumor cells. It is then important to identify epitopes of these proteins that can elicit antitumor immune response to contribute to the elimination of cells with metastatic potential. METHODS: We assayed the capacity of the peptide GLMEEMSAL, common in hMena/hMena11a and hMena/hMenaΔv6 isoforms, to generate an antitumor immune response through an in vitro vaccination system with mature dendritic cells (MDC) loaded with this peptide and in vivo immunization using a tumor model with the mammary adenocarcinoma JC cell line to induce tumors in BALBc mice...
February 2, 2018: International Immunopharmacology
https://www.readbyqxmd.com/read/29413756/the-assessment-of-background-parenchymal-enhancement-bpe-in-a-high-risk-population-what-causes-bpe
#20
Chao You, Anna K Kaiser, Pascal Baltzer, Julia Krammer, Yajia Gu, Weijun Peng, Stefan O Schönberg, Clemens G Kaiser
OBJECTIVE: To investigate promoting factors for background parenchymal enhancement (BPE) in MR mammography (MRM). METHODS: 146 patients were retrospectively evaluated, including 91 high-risk patients (50 BRCA patients, 41 patients with elevated lifetime risk). 56 screening patients were matched to the high-risk cases on the basis of age. The correlation of BPE with factors such as fibroglandular tissue (FGT), age, menopausal status, breast cancer, high-risk precondition as well as motion were investigated using linear regression...
January 27, 2018: Translational Oncology
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