keyword
MENU ▼
Read by QxMD icon Read
search

BRCA 2

keyword
https://www.readbyqxmd.com/read/29785153/prevalence-of-deleterious-mutations-among-patients-with-breast-cancer-referred-for-multigene-panel-testing-in-a-romanian-population
#1
Iulian Gabriel Goidescu, Gabriela Caracostea, Dan Tudor Eniu, Florin Vasile Stamatian
Aim: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing is becoming more common in medical care.We report our experience regarding deleterious mutations of high and moderate-risk breast cancer genes (BRCA1/2, TP53, STK11, CDH1, PTEN, PALB2, CHEK2, ATM), as well as more recently identified cancer genes, many of which have increased risk but less well-defined penetrance. Methods: Genetic testing was performed in 130 consecutive cases with breast cancer referred to our clinic for surgical evaluation and who met the 2016 National Comprehensive Cancer Network (NCCN) criteria for genetic testing...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29782359/brca1-mutations-associated-with-increased-risk-of-brain-metastases-in-breast-cancer-a-1-2-matched-pair-analysis
#2
Peter J Zavitsanos, David E Wazer, Jaroslaw T Hepel, Yihong Wang, Kamaljeet Singh, Kara L Leonard
BACKGROUND: Brain metastases (BM) occur in ∼5% of breast cancer patients. BRCA1-associated cancers are often basal-like and basal-like cancers are known to have a predilection for central nervous system metastases. We performed a matched-pair analysis of breast cancer patients with and without BRCA mutations and compared the frequency of BM in both groups. MATERIALS AND METHODS: From a database of 1935 patients treated for localized breast cancer at our institution from 2009 to 2014 we identified 20 patients with BRCA1 or BRCA2 mutations and manually matched 40 patients without BRCA mutations accounting for age, stage, estrogen receptor expression, and human epidermal growth factor receptor 2 (HER2) expression...
May 18, 2018: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29781860/utility-of-immunohistochemistry-in-distinguishing-primary-adnexal-carcinoma-from-metastatic-breast-carcinoma-to-skin-and-squamous-cell-carcinoma
#3
Aida Valencia-Guerrero, Karen Dresser, Kristine M Cornejo
The distinction between primary adnexal carcinoma (PAC) from metastatic breast carcinoma (BrCa) to skin and squamous cell carcinoma (SCC), particularly those with ductal differentiation (SCCDD), can be quite challenging, despite adequate history. The aim of the study was to determine the utility of an immunohistochemistry (IHC) panel to differentiate these entities and apply them to ambiguous tumors. Twenty-seven PAC, 7 metastatic BrCa, 28 SCC, and 16 ambiguous cases (SCCDD vs. PAC, n = 13 and metastatic BrCa vs...
June 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29778233/female-specific-association-among-i-j-and-k-mitochondrial-genetic-haplogroups-and-cancer-a-longitudinal-cohort-study
#4
Claudio Luchini, Alessia Nottegar, Alberto Vaona, Brendon Stubbs, Jacopo Demurtas, Stefania Maggi, Nicola Veronese
Recent studies highlighted the role of mitochondrial dysregulation in cancer, suggesting that the different mitochondrial haplogroups might play a role in tumorigenesis and risk of cancer development. Our aim is to investigate whether any mitochondrial haplogroups carried a significant higher risk of cancer development in a large prospective cohort of North American people. The haplogroup assignment was performed by a combination of sequencing and PCR-RFLP techniques. Our specific outcome of interest was the incidence of any cancer during follow-up period...
August 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29777302/emerging-strategies-in-brca-positive-pancreatic-cancer
#5
REVIEW
Adam Kowalewski, Łukasz Szylberg, Michał Saganek, Wojciech Napiontek, Paulina Antosik, Dariusz Grzanka
PURPOSE: We propose a treatment algorithm for PDAC with particular emphasis on BRCA1 or 2 mutation-positive patients. Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest diseases in the United States and Europe. BRCA1 and BRCA2 are among the most common of the known genetic mutations involved in familial PDAC. The optimal chemotherapy regimen to use for BRCA1 or 2 mutation carriers with PDAC is not yet established. As new treatment options emerge, algorithms must balance the need to give the best drugs first with ensuring that there are still beneficial options available for later...
May 18, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29774471/age-at-first-full-term-birth-and-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers
#6
Joanne Kotsopoulos, Jacek Gronwald, Henry T Lynch, Andrea Eisen, Susan L Neuhausen, Nadine Tung, Peter Ainsworth, Jeffrey N Weitzel, Tuya Pal, William D Foulkes, Charis Eng, Christian F Singer, Leigha Senter, Ping Sun, Jan Lubinski, Steven A Narod
PURPOSE: In the general population, an early age at first full-term birth confers protection against the risk of developing breast cancer. The relationship between age at first birth and breast cancer risk is not clear for women with a mutation in the BRCA1 or BRCA2 gene. Thus, we undertook a case-control study of women with a BRCA1 or BRCA2 mutation to study the effects of age at first full-term birth matched for other reproductive factors. METHODS: Information about reproductive factors, including age at first birth as well as medical history, was collected from a routinely administered research questionnaire...
May 17, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29774317/frequency-of-rearrangements-versus-small-indels-mutations-in-brca1-and-brca2-genes-in-turkish-patients-with-high-risk-breast-and-ovarian-cancer
#7
Hülya Yazıcı, Seda Kılıç, Demet Akdeniz, Özge Şükrüoğlu, Şeref Buğra Tuncer, Mukaddes Avşar, Gözde Kuru, Betül Çelik, Seden Küçücük, Pınar Saip
Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Materials and Methods: The study included 1809 patients at high risk of breast cancer or ovarian cancer...
April 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29770616/prevalence-of-germline-brca-mutations-among-women-with-carcinoma-of-the-peritoneum-or-fallopian-tube
#8
Min Chul Choi, Jin Sik Bae, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Ji Ho Kim, Ki Chan Lee, Sunghoon Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records...
March 26, 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29760936/preliminary-molecular-evidence-associating-a-novel-brca1-synonymous-variant-with-hereditary-ovarian-cancer-syndrome
#9
Angelo Minucci, Paola Concolino, Maria De Bonis, Alessandra Costella, Ida Paris, Giovanni Scambia, Ettore Capoluongo
Extensive molecular screening of the BRCA1/2 ( BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073   A  > T variant might play a pathogenic role in HOC syndrome in this family.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29750868/brca-status-does-not-predict-synergism-of-a-carboplatin-and-olaparib-combination-in-high-grade-serous-ovarian-cancer-cell-lines
#10
Yen Ting Shen, James C Evans, Gaetano Zafarana, Christine Allen, Micheline Piquette-Miller
Over 50% of epithelial ovarian cancers express the BRCAness profile that leads to a dysfunctional homologous recombination repair system. The combination of a dysfunctional homologous recombination repair system and a poly (ADP-ribose) polymerase (PARP) inhibitor results in a synthetic lethal phenotype. The PARP inhibitor olaparib, approved as a monotherapy for patients with a germline BRCA mutation, has shown promising results in preclinical studies when combined with DNA damaging agents such as carboplatin...
May 11, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29741462/complications-risk-factors-and-patients-reported-outcomes-after-skin-sparing-mastectomy-followed-by-breast-reconstruction-in-women-with-brca-mutations
#11
Ingvild O Moberg, Inger Schou Bredal, Michael R Schneider, Kim A Tønseth, Ellen Schlichting
BACKGROUND: Women with a BRCA mutation have the option of undergoing prophylactic mastectomy and immediate breast reconstruction; however, the potential negative effects of reconstruction on women's physical and psychological well-being are unclear. This study aimed to investigate complications, patient-reported pain, health-related quality-of-life (HRQoL) and satisfaction following reconstructive surgery at Oslo University Hospital between 2006 and 2013. METHODS: Data were collected retrospectively from the records of 238 patients...
May 9, 2018: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/29737473/uptake-of-brca-1-2-and-oncotype-dx-testing-by-medical-and-surgical-oncologists
#12
Yonina R Murciano-Goroff, Anne Marie McCarthy, Mirar N Bristol, Peter Groeneveld, Susan M Domchek, U Nkiru Motanya, Katrina Armstrong
PURPOSE: The diffusion of genomic testing is critical to the success of precision medicine, but there is limited information on oncologists' uptake of genetic technology. We aimed to assess the frequency with which medical oncologists and surgeons order BRCA 1/2 and Oncotype DX testing for breast cancer patients. METHODS: We surveyed 732 oncologists and surgeons treating breast cancer patients. Physicians were from Florida, New York, New Jersey, and Pennsylvania, and were listed in the 2010 AMA Masterfile or identified by patients...
May 8, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29735278/bilateral-salpingectomy-with-delayed-oophorectomy-for-ovarian-cancer-risk-reduction-a-pilot-study-in-women-with-brca1-2-mutations
#13
Denise R Nebgen, Jean Hurteau, Laura L Holman, Andrea Bradford, Mark F Munsell, Beth R Soletsky, Charlotte C Sun, Gary B Chisholm, Karen H Lu
OBJECTIVE: Risk-reducing salpingo-oophorectomy (RRSO) reduces ovarian cancer risk in BRCA1/2 mutation carriers, but the adverse effects of the associated early-onset surgical menopause are problematic. Despite suggestive evidence, no data demonstrate whether bilateral salpingectomy alone lowers the risk of developing ovarian cancer in BRCA mutation carriers. We conducted a pilot study of bilateral salpingectomy with delayed oophorectomy (BS/DO) in BRCA mutation carriers to determine the safety and acceptability of the procedure...
May 4, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29733524/safety-and-pharmacokinetics-of-veliparib-extended-release-in-patients-with-advanced-solid-tumors-a-phase-i-study
#14
Theresa L Werner, Jasgit Sachdev, Elizabeth M Swisher, Martin Gutierrez, Muaiad Kittaneh, Mark N Stein, Hao Xiong, Martin Dunbar, Danielle Sullivan, Philip Komarnitsky, Mark McKee, Antoinette R Tan
The poly(ADP-ribose) polymerase-1/2 inhibitor veliparib is active against tumors deficient in homologous DNA damage repair. The pharmacokinetics and safety of veliparib extended-release (ER) were evaluated in patients with advanced solid tumors. This phase I study assessed veliparib-ER up to 800 mg once daily or 600 mg twice daily. Dose-limiting toxicities (DLTs), recommended phase II dose (RP2D), and maximum tolerated dose (MTD) were assessed in cycle 1 and safety/tolerability during continuous administration (28-day cycles)...
May 7, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29731982/gene-specific-methylation-profiles-in-brca-mutation-positive-and-brca-mutation-negative-male-breast-cancers
#15
Piera Rizzolo, Valentina Silvestri, Virginia Valentini, Veronica Zelli, Ines Zanna, Giovanna Masala, Simonetta Bianchi, Domenico Palli, Laura Ottini
Male breast cancer (MBC) is a rare disease. Due to its rarity, MBC research and clinical approach are mostly based upon data derived from female breast cancer (FBC). Increasing evidence indicate that on molecular level MBC may be an heterogeneous disease different from FBC. In order to investigate whether epigenetic signatures could define molecular subgroups of MBCs, we performed promoter methylation analysis of genes involved in signal transduction and hormone signalling in BRCA1/2 mutation-positive and -negative MBCs...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29731958/main-implications-related-to-the-switch-to-brca-1-2-tumor-testing-in-ovarian-cancer-patients-a-proposal-of-a-consensus
#16
Ettore Capoluongo, Giovanni Scambia, Jean-Marc Nabholtz
Background: Since the approval of the first poly (adenosine diphosphate [ADP]) ribose polymerase inhibitor (PARPi; olaparib [Lynparza™]) for platinum-sensitive relapsed high grade ovarian cancer, with either germline or somatic BRCA1/2 deleterious variants, the strategies for BRCA1/2 are dynamically changing. Along with germline testing within the context of familial or sporadic ovarian cancer, patients are now being referred for BRCA1/2 genetic assay above all for treatment decisions: in this setting tumour BRCA assay can allow to identify an estimated 3-9% of patients with peculiar somatic BRCA1/2 mutations...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29729664/complete-response-to-orally-administered-melphalan-in-malignant-pleural-effusion-from-an-occult-female-genital-organ-primary-neoplasm-with-brca1-2-mutations-a-case-report
#17
Frank S Fan, Chung-Fan Yang
BACKGROUND: Definite diagnosis of metastasis from unknown primary depends on a comprehensive immunohistochemical investigation of tumor specimen. Accurate identification of the origin site usually helps a lot in choosing the most appropriate treatment. Molecular characterization provides more chance of a cure. Echoing modern medical development, BRCA1/2 mutations have been correlated with high efficiency of poly(adenosine diphosphate-ribose) polymerase inhibitors in ovarian cancer. While a previous case report demonstrated a surprising cure of platinum-resistant ovarian cancer with BRCA2 mutation by orally administered melphalan...
May 6, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29725888/brca-mutations-and-their-influence-on-pathological-complete-response-and-prognosis-in-a-clinical-cohort-of-neoadjuvantly-treated-breast-cancer-patients
#18
Marius Wunderle, Paul Gass, Lothar Häberle, Vivien M Flesch, Claudia Rauh, Mayada R Bani, Carolin C Hack, Michael G Schrauder, Sebastian M Jud, Julius Emons, Ramona Erber, Arif B Ekici, Juliane Hoyer, Georgia Vasileiou, Cornelia Kraus, Andre Reis, Arndt Hartmann, Michael P Lux, Matthias W Beckmann, Peter A Fasching, Alexander Hein
PURPOSE: BRCA1/2 mutations influence the molecular characteristics and the effects of systemic treatment of breast cancer. This study investigates the impact of germline BRCA1/2 mutations on pathological complete response and prognosis in patients receiving neoadjuvant systemic chemotherapy. METHODS: Breast cancer patients were tested for a BRCA1/2 mutation in clinical routine work and were treated with anthracycline-based or platinum-based neoadjuvant chemotherapy between 1997 and 2015...
May 3, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29725191/sistas-inspiring-sistas-through-activity-and-support-sistas-study-design-and-demographics-of-participants
#19
Malcolm Bevel, Oluwole A Babatunde, Sue P Heiney, Heather M Brandt, Michael D Wirth, Thomas G Hurley, Samira Khan, Hiluv Johnson, Cassandra M Wineglass, Tatiana Y Warren, E Angela Murphy, Erica Sercy, Amanda S Thomas, James R Hébert, Swann Arp Adams
Introduction: Recruiting racial, ethnic, and other underserved minorities into conventional clinic-based and other trials is known to be challenging. The Sistas Inspiring Sistas Through Activity and Support (SISTAS) Program was a one-year randomized controlled trial (RCT) to promote physical activity and healthy eating among AA women in SC to reduce inflammatory biomarkers, which are linked to increased breast cancer (BrCa) risk and mortality. This study describes the development, recruitment, and implementation of the SISTAS clinical trial and provides baseline characteristics of the study participants...
2018: Ethnicity & Disease
https://www.readbyqxmd.com/read/29698926/outcomes-of-systemic-therapy-for-advanced-triple-negative-breast-cancer-a-single-centre-experience
#20
Nicolò Matteo Luca Battisti, David Okonji, Thubeena Manickavasagar, Kabir Mohammed, Mark Allen, Alistair Ring
BACKGROUND: Prognosis is worse for advanced triple-negative breast cancer (aTNBC) compared to other disease subtypes. Trials describe treatment outcomes in single specified lines of therapy; but few data describe treatment outcomes across the whole treatment pathway, which is critical in determining when patients should be referred for trials and to inform discussion. We evaluated treatment outcomes for aTNBC (overall response rate [ORR], median progression-free survival [mPFS] and median overall survival [mOS]) in patients treated largely outside of clinical trials...
April 23, 2018: Breast: Official Journal of the European Society of Mastology
keyword
keyword
27343
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"