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Triple negative breast cancer and brca1-2

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https://www.readbyqxmd.com/read/28725277/sabcs-2016-systemic-therapy-for-metastatic-breast-cancer
#1
REVIEW
Simon Peter Gampenrieder, Gabriel Rinnerthaler, Richard Greil
At the 2016 San Antonio Breast Cancer Symposium, several interesting phase II and phase III studies investigating systemic therapies for metastatic breast cancer were presented. The PrEGOC 0102 trial demonstrated that the combination of fulvestrant plus everolimus is safe and effective and could be an alternative to exemestane plus everolimus for selected patients with hormone-receptor positive, HER2-negative disease. The pan-PI3K inhibitor buparlisib showed some activity in combination with fulvestrant after failure of everolimus in the BELLE-3 trial...
2017: Memo
https://www.readbyqxmd.com/read/28724667/germline-mutations-in-cancer-susceptibility-genes-in-a-large-series-of-unselected-breast-cancer-patients
#2
Jie Sun, Hua Meng, Lu Yao, Meng Lv, Jian Bai, Jianguang Zhang, Lientu Wang, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Yuntao Xie
PURPOSE: The prevalence of mutations in cancer susceptibility genes such as BRCA1 and BRCA2 and other cancer susceptibility genes and their clinical relevance are largely unknown among a large series of unselected breast cancer patients in Chinese population. <p> </p> <p>METHODS: A total of 8085 consecutive unselected Chinese breast cancer patients were enrolled. Germline mutations in 46 cancer susceptibility genes were detected using a 62-gene panel.</p> <p> </p> <p>RESULTS: Pathogenic mutations were identified in 9...
July 19, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28715532/germline-mutation-status-pathological-complete-response-and-disease-free-survival-in-triple-negative-breast-cancer-secondary-analysis-of-the-geparsixto-randomized-clinical-trial
#3
Eric Hahnen, Bianca Lederer, Jan Hauke, Sibylle Loibl, Sandra Kröber, Andreas Schneeweiss, Carsten Denkert, Peter A Fasching, Jens U Blohmer, Christian Jackisch, Stefan Paepke, Bernd Gerber, Sherko Kümmel, Christian Schem, Guido Neidhardt, Jens Huober, Kerstin Rhiem, Serban Costa, Janine Altmüller, Claus Hanusch, Holger Thiele, Volkmar Müller, Peter Nürnberg, Thomas Karn, Valentina Nekljudova, Michael Untch, Gunter von Minckwitz, Rita K Schmutzler
Importance: The GeparSixto trial provided evidence that the addition of neoadjuvant carboplatin to a regimen consisting of anthracycline, taxane, and bevacizumab increases pathological complete response (pCR) rates in patients with triple-negative breast cancer (TNBC). Whether BRCA1 and BRCA2 germline mutation status affects treatment outcome remains elusive. Objective: To determine whether BRCA1 and BRCA2 germline mutation status affects therapy response in patients with TNBC...
July 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28702895/fancm-mutation-c-5791c-t-is-a-risk-factor-for-triple-negative-breast-cancer-in-the-finnish-population
#4
Johanna I Kiiski, Anna Tervasmäki, Liisa M Pelttari, Sofia Khan, Tuomo Mantere, Katri Pylkäs, Arto Mannermaa, Maria Tengström, Anders Kvist, Åke Borg, Veli-Matti Kosma, Anne Kallioniemi, Johanna Schleutker, Ralf Bützow, Carl Blomqvist, Kristiina Aittomäki, Robert Winqvist, Heli Nevanlinna
PURPOSE: The FANCM c.5101C>T nonsense mutation was previously found to associate with breast cancer in the Finnish population, especially among triple-negative cases. Here, we studied the prevalence of three other FANCM variants: c.5791C>T, which has been reported to predispose to familial breast cancer, and the c.4025_4026delCT and c.5293dupA variants recently identified in Finnish cancer patients. METHODS: We genotyped the FANCM c.5791C>T mutation in 4806 invasive breast cancer patients, including BRCA1/2 mutation negative familial cases and unselected cases, and in 2734 healthy population controls from four different geographical areas of Finland...
July 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28679863/targeted-exome-sequencing-of-korean-triple-negative-breast-cancer-reveals-homozygous-deletions-associated-with-poor-prognosis-of-adjuvant-chemotherapy-treated-patients
#5
Hae Min Jeong, Ryong Nam Kim, Mi Jeong Kwon, Ensel Oh, Jinil Han, Se Kyung Lee, Jong-Sun Choi, Sara Park, Seok Jin Nam, Gyung Yup Gong, Jin Wu Nam, Doo Ho Choi, Hannah Lee, Byung-Ho Nam, Yoon-La Choi, Young Kee Shin
Triple-negative breast cancer is characterized by the absence of estrogen and progesterone receptors and human epidermal growth factor receptor 2, and is associated with a poorer outcome than other subtypes of breast cancer. Moreover, there are no accurate prognostic genes or effective therapeutic targets, thereby necessitating continued intensive investigation. This study analyzed the genetic mutation landscape in 70 patients with triple-negative breast cancer by targeted exome sequencing of tumor and matched normal samples...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28664506/prevalence-and-spectrum-of-germline-rare-variants-in-brca1-2-and-palb2-among-breast-cancer-cases-in-sarawak-malaysia
#6
Xiaohong R Yang, Beena C R Devi, Hyuna Sung, Jennifer Guida, Eliseos J Mucaki, Yanzi Xiao, Ana Best, Lisa Garland, Yi Xie, Nan Hu, Maria Rodriguez-Herrera, Chaoyu Wang, Kristine Jones, Wen Luo, Belynda Hicks, Tieng Swee Tang, Karobi Moitra, Peter K Rogan, Michael Dean
PURPOSE: To characterize the spectrum of germline mutations in BRCA1, BRCA2, and PALB2 in population-based unselected breast cancer cases in an Asian population. METHODS: Germline DNA from 467 breast cancer patients in Sarawak General Hospital, Malaysia, where 93% of the breast cancer patients in Sarawak are treated, was sequenced for the entire coding region of BRCA1; BRCA2; PALB2; Exons 6, 7, and 8 of TP53; and Exons 7 and 8 of PTEN. Pathogenic variants included known pathogenic variants in ClinVar, loss of function variants, and variants that disrupt splice site...
June 29, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28636652/integrative-analysis-of-genomic-alterations-in-triple-negative-breast-cancer-in-association-with-homologous-recombination-deficiency
#7
Masahito Kawazu, Shinya Kojima, Toshihide Ueno, Yasushi Totoki, Hiromi Nakamura, Akiko Kunita, Wei Qu, Jun Yoshimura, Manabu Soda, Takahiko Yasuda, Natsuko Hama, Mihoko Saito-Adachi, Kazuhito Sato, Shinji Kohsaka, Eirin Sai, Masako Ikemura, Shigeru Yamamoto, Tomoko Ogawa, Masashi Fukayama, Keiichiro Tada, Yasuyuki Seto, Shinichi Morishita, Shoichi Hazama, Tatsuhiro Shibata, Yoshihiro Yamashita, Hiroyuki Mano
Triple-negative breast cancer (TNBC) cells do not express estrogen receptors, progesterone receptors, or human epidermal growth factor receptor 2. Currently, apart from poly ADP-ribose polymerase inhibitors, there are few effective therapeutic options for this type of cancer. Here, we present comprehensive characterization of the genetic alterations in TNBC performed by high coverage whole genome sequencing together with transcriptome and whole exome sequencing. Silencing of the BRCA1 gene impaired the homologous recombination pathway in a subset of TNBCs, which exhibited similar phenotypes to tumors with BRCA1 mutations; they harbored many structural variations (SVs) with relative enrichment for tandem duplication...
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28627138/predictors-of-brca1-2-genetic-testing-among-black-women-with-breast-cancer-a-population-based-study
#8
Tarsha Jones, Anne Marie McCarthy, Younji Kim, Katrina Armstrong
Evidence shows that Black women diagnosed with breast cancer are substantially less likely to undergo BRCA testing and other multipanel genetic testing compared to White women, despite having a higher incidence of early-age onset breast cancer and triple-negative breast cancer (TNBC). Our study identifies predictors of BRCA testing among Black women treated for breast cancer and examines differences between BRCA testers and nontesters. We conducted an analysis of 945 Black women ages 18-64 diagnosed with localized or regional-stage invasive breast cancer in Pennsylvania and Florida between 2007 and 2009...
July 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28611537/therapeutic-advances-and-new-directions-for-triple-negative-breast-cancer
#9
REVIEW
Eleni Andreopoulou, Catherine M Kelly, Hayley M McDaid
Triple-negative breast cancer (TNBC) is a molecularly diverse grouping with poor prognosis for which chemotherapy remains the foundation of treatment. The molecular heterogeneity of the disease rationalizes its diverse biological behavior and differential response to treatment. Estimates of up to 20% of patients diagnosed have germline mutations in DNA-damage repair-pathway genes, namely BRCA1 and 2, and this can be used to select patients likely to respond to platinums and/or inhibitors of poly(ADP-ribose) polymerase (PARP)...
March 2017: Breast Care
https://www.readbyqxmd.com/read/28611536/germline-mutations-in-triple-negative-breast-cancer
#10
REVIEW
Eric Hahnen, Jan Hauke, Christoph Engel, Guido Neidhardt, Kerstin Rhiem, Rita K Schmutzler
Triple-negative breast cancer (TNBC) is associated with a poor prognosis and defines a subgroup of patients who do not benefit from endocrine or anti-HER2 therapy. Rather than being a biological entity, TNBC represents a heterogeneous disease, and further subtyping is necessary to establish targeted therapies. Germline mutational status may serve as a robust biomarker predicting therapy response, especially with respect to compounds challenging the DNA repair machinery. Patients with TNBC usually show an early onset of the disease, as well as a positive family history of breast and/or ovarian cancer in more than one third of all cases, which suggests that TNBC is closely associated with a hereditary disease cause...
March 2017: Breast Care
https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#11
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28500412/-hereditary-breast-and-ovarian-cancer
#12
REVIEW
S F Lax
Hereditary breast and ovarian carcinomas are frequently caused by germline mutations of the BRCA1 and BRCA2 genes (BRCA1/2 syndromes) and are often less associated with other hereditary syndromes such as Li-Fraumeni and Peutz-Jeghers. The BRCA1/2 proteins have a special role in DNA repair. Therefore, loss of function due to mutation causes an accumulation of mutations in other genes and subsequent tumorigenesis at an early age. BRCA1/2 mutations are irregularly distributed over the length of the genes without hot spots, although special mutations are known...
May 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28499366/the-role-of-brca1-iris-in-the-development-and-progression-of-triple-negative-breast-cancers-in-egypt-possible-link-to-disease-early-lesion
#13
Danielle Bogan, Lucio Meile, Ahmed El Bastawisy, Hend F Yousef, Abdel-Rahman N Zekri, Abeer A Bahnassy, Wael M ElShamy
BACKGROUND: Breast cancer is the most globally diagnosed female cancer, with the triple negative breast cancer (TNBC) being the most aggressive subtype of the disease. In this study we aimed at comparing the effect of BRCA1-IRIS overexpression on the clinico-pathological characteristics in breast cancer patients with TNBC or non-TNBC in the largest comprehensive cancer center in Egypt. METHODS: To reach this goal, we conducted an observational study at the National Cancer Institute (NCI), Cairo University (Cairo, Egypt)...
May 12, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28490612/pathology-update-to-the-manchester-scoring-system-based-on-testing-in-over-4000-families
#14
D Gareth Evans, Elaine F Harkness, Inga Plaskocinska, Andrew J Wallace, Tara Clancy, Emma R Woodward, Tony A Howell, Marc Tischkowitz, Fiona Lalloo
BACKGROUND: While the requirement for thresholds for testing for mutations in BRCA1/2 is being questioned, they are likely to remain for individuals unaffected by a relevant cancer. It is still useful to provide pretesting likelihoods, but models need to take into account tumour pathology. METHODS: The Manchester Scoring System (MSS) is a well-used, simple, paper-based model for assessing carrier probability that already incorporates pathology data. We have used mutation testing data from 4115 unrelated samples from affected non-Jewish individuals alongside tumour pathology to further refine the scoring system...
May 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28477318/molecular-characterization-and-clinical-interpretation-of-brca1-brca2-variants-in-families-from-murcia-south-eastern-spain-with-hereditary-breast-and-ovarian-cancer-clinical-pathological-features-in-brca-carriers-and-non-carriers
#15
Xavier Gabaldó Barrios, Mª Desamparados Sarabia Meseguer, Miguel Marín Vera, Ana Isabel Sánchez Bermúdez, José Antonio Macías Cerrolaza, Pilar Sánchez Henarejos, Marta Zafra Poves, Mª Rosario García Hernández, Encarna Cuevas Tortosa, Ángeles Aliaga Baño, Verónica Castillo Guardiola, Pedro Martínez Hernández, Isabel Tovar Zapata, Enrique Martínez Barba, Francisco Ayala de la Peña, José Luis Alonso Romero, José Antonio Noguera Velasco, Francisco Ruiz Espejo
This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 194 different genetic variants were obtained. Variants with uncertain significance accounted for only 5.6% of the total number of reports, so our population has been well characterised. In BRCA1 gene, two novel variants were found (c.1859delT and c.3205C > T) and the most frequently detected mutations were c...
May 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28467918/higher-antitumor-activity-of-trabectedin-in-germline-brca2-carriers-with-advanced-breast-cancer-as-compared-to-brca1-carriers-a-subset-analysis-of-a-dedicated-phase-ii-trial
#16
Amal Ghouadni, Suzette Delaloge, Pilar Lardelli, Carmen Kahatt, Tomasz Byrski, Joanne L Blum, Anthony Gonçalves, Mario Campone, Antonio Nieto, Vicente Alfaro, Martin Cullell-Young, Jan Lubinski
Specific alkylators may allow synthetic lethality among patients with germline BRCA1/2-mutations related cancers. The tetrahydroisoquinolone trabectedin administered at 1.3 mg/m(2) as a 3-h intravenous infusion every 3 weeks showed activity in patients with pretreated metastatic breast cancer (MBC) and BRCA germline mutations, but mainly in BRCA2 carriers. Data from a phase II study were retrospectively analyzed to compare the efficacy and safety of this trabectedin dose and schedule in pretreated MBC patients bearing germline BRCA1/2 mutations...
April 30, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28438622/p53-alteration-in-morphologically-normal-benign-breast-luminal-cells-in-brca-carriers-with-or-without-history-of-breast-cancer
#17
Xi Wang, Amber A El-Halaby, Hengwei Zhang, Qi Yang, Todd S Laughlin, Paul G Rothberg, Kristin Skinner, David G Hicks
Germ-line mutations in BRCA genes have been shown to predispose patients to breast cancer. Studies have suggested that p53 alteration is a necessary step in tumorigenesis in BRCA carriers. Our previous study showed p53 alteration in morphologically normal/benign breast luminal cells in sporadic breast cancer patients, the so-called "breast p53 signature". Here, we studied p53 status in 66 BRCA1/2 carriers' breasts; 29 patients with breast carcinoma (2 patients with bilateral breast carcinomas) and 37 without...
April 21, 2017: Human Pathology
https://www.readbyqxmd.com/read/28435291/role-of-postmastectomy-radiotherapy-in-early-stage-t1-2n0-1m0-triple-negative-breast-cancer-a-systematic-review
#18
REVIEW
Fengxia Chen, Feifei Pu
Triple-negative breast cancer (TNBC), which represents 15%-20% of all breast cancers, is defined by the absence of estrogen receptor (ER) and progesterone receptor (PR) and overexpression of human epidermal growth factor receptor 2 (HER2). Owing to the absence of specific therapeutic targets and its aggressive biologic characteristics, TNBC patients often experience a high risk of disease progression and poor overall survival. Furthermore, TNBC exhibits an early pattern of recurrence with a peak recurrence risk at 2-3 years after surgery...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28395540/olaparib-for-the-treatment-of-breast-cancer
#19
REVIEW
Marie Robert, Jean-Sébastien Frenel, Carole Gourmelon, Anne Patsouris, Paule Augereau, Mario Campone
Basal-like breast cancer is characterized by being triple negative and aggressive. Defects in DNA repair is a promising therapeutic target as BRCA alterations are found in 11 to 42% of these tumors, with a frequency varying according to family history and ethnicity. The oral PARP inhibitors exploit this deficiency through a synthetic lethality and are considered as promising anticancer therapies, especially in patients harboring BRCA1 or BRCA 2 mutations. Areas covered: Olaparib is one of the most widely investigated PARP inhibitors...
June 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28388551/phase-i-ib-study-of-olaparib-and-carboplatin-in-women-with-triple-negative-breast-cancer
#20
Jung-Min Lee, John L Hays, Victoria L Chiou, Christina M Annunziata, Elizabeth M Swisher, Maria I Harrell, Minshu Yu, Nicolas Gordon, Tristan M Sissung, Jiuping Ji, William D Figg, Lori Minasian, Stanley Lipkowitz, Bradford J Wood, James Doroshow, Elise C Kohn
PURPOSE: To investigate the safety, activity, and potential biomarkers of response to olaparib and carboplatin combination in sporadic triple negative breast cancer (TNBC). EXPERIMENTAL DESIGN: Metastatic or recurrent TNBC patients with no germline BRCA mutation or with BRCAPro scores <10% and a negative family history were eligible. A 3+3 dose escalation tested olaparib capsules (400mg bid, days1-7) with carboplatin AUC3-5 on day1 or 2 every 21 days, ≤ 8 cycles, with olaparib 400mg bid maintenance...
March 25, 2017: Oncotarget
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