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https://www.readbyqxmd.com/read/29338080/phase-1-trial-evaluating-cisplatin-gemcitabine-and-veliparib-in-2-patient-cohorts-germline-brca-mutation-carriers-and-wild-type-brca-pancreatic-ductal-adenocarcinoma
#1
Eileen M O'Reilly, Jonathan W Lee, Maeve A Lowery, Marinela Capanu, Zsofia K Stadler, Malcolm J Moore, Neesha Dhani, Hedy L Kindler, Hayley Estrella, Hannah Maynard, Talia Golan, Amiel Segal, Erin E Salo-Mullen, Kenneth H Yu, Andrew S Epstein, Michal Segal, Robin Brenner, Richard K Do, Alice P Chen, Laura H Tang, David P Kelsen
BACKGROUND: A phase 1 trial was used to evaluate a combination of cisplatin, gemcitabine, and escalating doses of veliparib in patients with untreated advanced pancreatic ductal adenocarcinoma (PDAC) in 2 cohorts: a germline BRCA1/2-mutated (BRCA+) cohort and a wild-type BRCA (BRCA-) cohort. The aims were to determine the safety, dose-limiting toxicities (DLTs), maximum tolerated dose, and recommended phase 2 dose (RP2D) of veliparib combined with cisplatin and gemcitabine and to assess the antitumor efficacy (Response Evaluation Criteria in Solid Tumors, version 1...
January 16, 2018: Cancer
https://www.readbyqxmd.com/read/29337092/germline-brca-mutation-and-outcome-in-young-onset-breast-cancer-posh-a-prospective-cohort-study
#2
Ellen R Copson, Tom C Maishman, Will J Tapper, Ramsey I Cutress, Stephanie Greville-Heygate, Douglas G Altman, Bryony Eccles, Sue Gerty, Lorraine T Durcan, Louise Jones, D Gareth Evans, Alastair M Thompson, Paul Pharoah, Douglas F Easton, Alison M Dunning, Andrew Hanby, Sunil Lakhani, Ros Eeles, Fiona J Gilbert, Hisham Hamed, Shirley Hodgson, Peter Simmonds, Louise Stanton, Diana M Eccles
BACKGROUND: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect of a germline BRCA1 or BRCA2 mutation on breast cancer outcomes in patients with young-onset breast cancer. METHODS: We did a prospective cohort study of female patients recruited from 127 hospitals in the UK aged 40 years or younger at first diagnosis (by histological confirmation) of invasive breast cancer...
January 11, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29335925/germline-deleterious-mutations-in-genes-other-than-brca2-are-infrequent-in-male-breast-cancer
#3
Florentia Fostira, Emmanouil Saloustros, Paraskevi Apostolou, Andromahi Vagena, Despoina Kalfakakou, Davide Mauri, Dimitrios Tryfonopoulos, Vassileios Georgoulias, Drakoulis Yannoukakos, Georgios Fountzilas, Irene Konstantopoulou
PURPOSE: Male breast cancer (MBC) is a rare cancer entity, with mutations in BRCA1 and BRCA2 genes accounting for ~ 10% of patients. Multiple-gene sequencing has already entered clinical practice for female breast cancer, whereas the performance of panel testing in MBC has not been studied extensively. Therefore, the aim of this study was to evaluate the clinical utility of panel testing for MBC, by the largest gene panel used so far, through investigation of patients deriving from a population with known founder effects...
January 15, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29335492/assessing-the-effectiveness-of-nice-criteria-for-stratifying-breast-cancer-risk-in-a-uk-cohort
#4
Lucy A Littlejohn, Jim Gibbs, Lee B Jordan, Zosia H Miedzybrodzka, Christine Bell, David Goudie, Jacqueline Dunlop, Jonathan N Berg
Breast cancer risk is a common indication for referral to clinical genetics services. UK National Institute of Health and Care Excellence (NICE) guidelines use family history (FH) to stratify by 10-year risk of breast cancer from age 40. Patients are stratified into population risk (PR, 10-year risk <3%), moderate (MR, 3-8%) and high risk (HR, >8%). Women at increased risk are offered screening at or prior to age 40. To assess the clinical effectiveness of current risk stratification, FH data were obtained for all unaffected women with a FH of breast cancer aged <50, referred to cancer genetics from 2000-2010...
January 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29330845/the-association-between-smoking-and-cancer-incidence-in-brca1-and-brca2-mutation-carriers
#5
Kwang-Pil Ko, Shana J Kim, Tomasz Huzarski, Jacek Gronwald, Jan Lubinski, Henry T Lynch, Susan Armel, Sue K Park, Beth Karlan, Christian F Singer, Susan L Neuhausen, Steven A Narod, Joanne Kotsopoulos
Tobacco smoke is an established carcinogen, but the association between tobacco smoking and cancer risk in BRCA mutation carriers is not clear. The aim of this study was to evaluate prospectively the association between tobacco smoking and cancer incidence in a cohort of BRCA1 and BRCA2 mutation carriers. The study population consisted of unaffected BRCA mutation carriers. Information on lifestyle including smoking histories, reproductive factors, and past medical histories was obtained through questionnaires...
January 13, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29330213/young-women-with-brca-mutation-can-safely-postpone-radical-surgery
#6
Jacqui Wise
No abstract text is available yet for this article.
January 12, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29327849/olaparib-for-metastatic-germline-brca-mutated-breast-cancer
#7
Mark Robson, Carsten Goessl, Susan Domchek
No abstract text is available yet for this article.
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29327848/olaparib-for-metastatic-germline-brca-mutated-breast-cancer
#8
Steven Narod, Christopher M Booth, William D Foulkes
No abstract text is available yet for this article.
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29327596/fertility-preservation-in-brca-mutated-women-when-and-how
#9
Michaël Grynberg, Jade Raad, Marjorie Comtet, Claire Vinolas, Isabelle Cédrin-Durnerin, Charlotte Sonigo
BRCA 1 and 2 genes play a critical role in the safeguarding of DNA integrity. It is now well established that BRCA1 and BRCA2-mutated women are at increased risk of breast and ovarian cancers. However, several lines of evidence indicate that this genetic status may also be associated with ovarian dysfunction, in particular a reduced ovarian reserve. Considering the gonadal toxicity of cancer treatments and the recommendation of prophylactic bilateral salpingo-oophorectomy around 40 years, young BRCA mutation carriers are confronted with difficult family planning decisions...
January 12, 2018: Future Oncology
https://www.readbyqxmd.com/read/29323669/cost-effectiveness-and-comparative-effectiveness-of-cancer-risk-management-strategies-in-brca1-2-mutation-carriers-a-systematic-review
#10
Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew, Paul A James
PurposeTo review the evidence for the effectiveness and cost-effectiveness of cancer risk management interventions for BRCA carriers.MethodsComparative effectiveness and cost-effectiveness analyses were identified by searching scientific and health economic databases. Eligible studies modeled the impact of a cancer risk management intervention in BRCA carriers on life expectancy (LE), cancer incidence, or quality-adjusted life years (QALYs), with or without costs.ResultsTwenty-six economic evaluations and eight comparative effectiveness analyses were included...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29323057/hypoxia-induced-factor-1-alpha-vascular-endothelial-growth-factor-expression-in-brca1-related-breast-cancer-a-prospective-study-in-tertiary-care-hospital
#11
Manisha Sharma, Sanjay Piplani, Manas Madan, Mridu Manjari, Saumil Garg, Komalpreet Kaur
INTRODUCTION: Breast cancer is the commonest cause of death among middle aged women. BRCA1 associated tumors carry a poor prognosis. Angiogenesis is considered necessary for tumor growth and for its metastasis. Hypoxia stimulates HIF-1α which then activates transcription of various proangiogenic cytokines like VEGF. In the present study we examined HIF-1α expression, sVEGF levels and BRCA1 mutations and their relation with clinicopathological parameters. We also determined whether the angiogenic markers have different role in angiogenesis in BRCA1 related cancers as compared to sporadic breast cancers...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29316072/the-impact-of-patient-age-on-breast-cancer-risk-prediction-models
#12
Suzanne B Coopey, Ahmet Acar, Molly Griffin, Jessica Cintolo-Gonzalez, Alan Semine, Kevin S Hughes
BACKGROUND: The impact of age on breast cancer risk model calculations at the population level has not been well documented. METHODS: Retrospective analysis of formal breast cancer risk assessment in 36 542 females ages 40-84 at a single institution from 02/2007 to 12/2009. Five-year and lifetime breast cancer risks were calculated using Gail, Tyrer-Cuzick version 6 (TC6), Tyrer-Cuzick version 7 (TC7), BRCAPRO, and Claus models. Risk of BRCA mutation was calculated using BRCAPRO, TC6, TC7, and Myriad...
January 8, 2018: Breast Journal
https://www.readbyqxmd.com/read/29313444/poly-adp-ribose-polymerase-inhibitors-in-the-management-of-ovarian-cancer
#13
Maurie Markman
There is considerable interest and enthusiasm within the clinical gynecologic oncology community regarding the potential for poly (ADP-ribose) polymerase inhibitors to play a critically relevant role in the management of epithelial ovarian cancer and particularly (although not exclusively) in the setting of known mutations in the BRCA gene. This review will briefly highlight the biological rational for the use of poly (ADP-ribose) polymerase inhibitors in this malignancy, followed by summary of currently available clinical data supporting the delivery of agents approved by the US Food and Drug Administration for non-investigative use...
January 2018: Women's Health
https://www.readbyqxmd.com/read/29310832/comprehensive-brca-mutation-analysis-in-the-greek-population-experience-from-a-single-clinical-diagnostic-center
#14
Angela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, Georgios N Tsaousis, Eirini Papadopoulou, Vasiliki Metaxa-Mariatou, Angeliki Tsirigoti, Chrysoula Efstathiadou, Christos Markopoulos, Grigorios Xepapadakis, Vasileios Venizelos, Aris Tsiftsoglou, Ioannis Natsiopoulos, George Nasioulas
Germline mutations in the BRCA1 and BRCA2 genes are associated with hereditary predisposition to breast and ovarian cancer. Sensitive and accurate detection of BRCA1 and BRCA2 mutations is crucial for personalized clinical management of individuals affected by breast or ovarian cancer, and for the identification of at-risk healthy relatives. We performed molecular analysis of the BRCA1 and BRCA2 genes in 898 Greek families, using Sanger sequencing or Next Generation Sequencing for the detection of small insertion/deletion frameshift, nonsynonymous, truncating and splice-site alterations and MLPA for the detection of large genomic rearrangements...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29301143/prostate-specific-antigen-velocity-in-a-prospective-prostate-cancer-screening-study-of-men-with-genetic-predisposition
#15
Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, Elizabeth Bancroft, Emily Vertosick, Tokhir Dadaev, Charles Brendler, Elizabeth Page, Alexander Dias, D Gareth Evans, Jeanette Rothwell, Lovise Maehle, Karol Axcrona, Kate Richardson, Diana Eccles, Thomas Jensen, Palle J Osther, Christi J van Asperen, Hans Vasen, Lambertus A Kiemeney, Janneke Ringelberg, Cezary Cybulski, Dominika Wokolorczyk, Rachel Hart, Wayne Glover, Jimmy Lam, Louise Taylor, Monica Salinas, Lidia Feliubadaló, Rogier Oldenburg, Ruben Cremers, Gerald Verhaegh, Wendy A van Zelst-Stams, Jan C Oosterwijk, Jackie Cook, Derek J Rosario, Saundra S Buys, Tom Conner, Susan Domchek, Jacquelyn Powers, Margreet Gem Ausems, Manuel R Teixeira, Sofia Maia, Louise Izatt, Rita Schmutzler, Kerstin Rhiem, William D Foulkes, Talia Boshari, Rosemarie Davidson, Marielle Ruijs, Apollonia Tjm Helderman-van den Enden, Lesley Andrews, Lisa Walker, Katie Snape, Alex Henderson, Irene Jobson, Geoffrey J Lindeman, Annelie Liljegren, Marion Harris, Muriel A Adank, Judy Kirk, Amy Taylor, Rachel Susman, Rakefet Chen-Shtoyerman, Nicholas Pachter, Allan Spigelman, Lucy Side, Janez Zgajnar, Josefina Mora, Carole Brewer, Neus Gadea, Angela F Brady, David Gallagher, Theo van Os, Alan Donaldson, Vigdis Stefansdottir, Julian Barwell, Paul A James, Declan Murphy, Eitan Friedman, Nicola Nicolai, Lynn Greenhalgh, Elias Obeid, Vedang Murthy, Lucia Copakova, John McGrath, Soo-Hwang Teo, Sara Strom, Karin Kast, Daniel A Leongamornlert, Anthony Chamberlain, Jenny Pope, Anna C Newlin, Neil Aaronson, Audrey Ardern-Jones, Chris Bangma, Elena Castro, David Dearnaley, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Hamdy, Oskar Johannsson, Vincent Khoo, Jan Lubinski, Eli Marie Grindedal, Joanne McKinley, Kylie Shackleton, Anita V Mitra, Clare Moynihan, Gad Rennert, Mohnish Suri, Karen Tricker, Sue Moss, Zsofia Kote-Jarai, Andrew Vickers, Hans Lilja, Brian T Helfand, Rosalind A Eeles
BACKGROUND: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. This analysis evaluates the utility of PSA and PSAV for identifying PrCa and high-grade disease in this cohort. METHODS: PSAV was calculated using logistic regression to determine if PSA or PSAV predicted the result of prostate biopsy (PB) in men with elevated PSA values...
January 4, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29300376/cost-effectiveness-analysis-of-germ-line-brca-testing-in-women-with-breast-cancer-and-cascade-testing-in-family-members-of-mutation-carriers
#16
Haitham W Tuffaha, Andrew Mitchell, Robyn L Ward, Luke Connelly, James R G Butler, Sarah Norris, Paul A Scuffham
PurposeTo evaluate the cost-effectiveness of BRCA testing in women with breast cancer, and cascade testing in family members of BRCA mutation carriers.MethodsA cost-effectiveness analysis was conducted using a cohort Markov model from a health-payer perspective. The model estimated the long-term benefits and costs of testing women with breast cancer who had at least a 10% pretest BRCA mutation probability, and the cascade testing of first- and second-degree relatives of women who test positive.ResultsCompared with no testing, BRCA testing of affected women resulted in an incremental cost per quality-adjusted life-year (QALY) gained of AU$18,900 (incremental cost AU$1,880; incremental QALY gain 0...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29298171/expression-of-%C3%AE-v-tubulin-in-secretory-cells-of-the-fallopian-tube-epithelium-marks-cellular-atypia
#17
Deepti Mathew, Yanhua Wang, Anne Van Arsdale, Susan Band Horwitz, Hayley McDaid
OBJECTIVES: Class V Beta tubulin isotype (βV-tubulin) was recently found to have tissue-specific expression patterns in epithelial tissues with secretory function and aberrant expression in tumors. The aims of this pilot study were (a) to examine expression of βV-tubulin in the fallopian tube epithelium (FTE) of patients who underwent salpingectomy, (b) to characterize FTE atypia in high-risk patients with BRCA mutations, and (c) to determine expression of βV-tubulin in serous ovarian neoplasms...
January 3, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29297111/high-prevalence-of-deleterious-brca1-and-brca2-germline-mutations-in-arab-breast-and-ovarian-cancer-patients
#18
Al-Joharah Alhuqail, Areej Alzahrani, Hannah Almubarak, Sarah Al-Qadheeb, Lamyaa Alghofaili, Nisreen Almoghrabi, Hamed Alhussaini, Ben Ho Park, Dilek Colak, Bedri Karakas
PURPOSE: The BRCA1 and BRCA2 (BRCA) genes are heavily involved in mammalian cell DNA repair processes. Germline pathogenic mutations in BRCA increase the lifetime risk of developing breast and/or ovarian cancer in women. In the Arabian Peninsula, most breast and ovarian cancers are diagnosed as early-onset cases, some of which may be due to germline variants in BRCA genes. To identify the BRCA germline mutation frequency and spectrum in the Arab breast and ovarian cancers, we have sequenced the protein-coding exons of these genes...
January 2, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29288066/cost-effectiveness-of-population-based-brca1-founder-mutation-testing-in-sephardi-jewish-women
#19
Shreeya Patel, Rosa Legood, D Gareth Evans, Clare Turnbull, Antonis C Antoniou, Usha Menon, Ian Jacobs, Ranjit Manchanda
BACKGROUND: Population-based BRCA1/BRCA2 founder-mutation testing has been demonstrated as cost-effective compared to family-history(FH) based testing in Ashkenazi Jewish(AJ) women. However, only one of the three AJ BRCA1/BRCA2 founder-mutations (185delAG(c.68_69delAG), 5382insC(c.5266dupC) and 6174delT(c.5946delT)) is found in the Sephardi Jewish(SJ) population (185delAG(c.68_69delAG)) and the overall prevalence of BRCA mutations in the SJ population is accordingly lower (0.7% compared to 2...
December 26, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29287922/gynaecological-neoplasms-in-common-familial-syndromes-lynch-and-hboc
#20
REVIEW
Carla Bartosch, Blaise Clarke, Tjalling Bosse
Recognising hereditary predisposition in a cancer patient has implications both for the patient and the patient's kindred. For the latter, cascade germline testing can reassure those not-at-risk family members while carriers can be enrolled in cancer screening and prevention programs that are medically effective and economically sustainable for health care systems. Furthermore, in many of these syndromes, ramifications of molecular phenotypes are increasing, and it is now emerging that, in addition, they convey prognostic and predictive information...
December 26, 2017: Pathology
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