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https://www.readbyqxmd.com/read/29330845/the-association-between-smoking-and-cancer-incidence-in-brca1-and-brca2-mutation-carriers
#1
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/29327596/fertility-preservation-in-brca-mutated-women-when-and-how
#2
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/29323057/hypoxia-induced-factor-1-alpha-vascular-endothelial-growth-factor-expression-in-brca1-related-breast-cancer-a-prospective-study-in-tertiary-care-hospital
#3
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
#4
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/29309945/brca1-brca2-germline-mutation-carriers-and-sporadic-pancreatic-adenocarcinoma
#5
Alex B Blair, Vincent P Groot, Georgios Gemenetzis, Jishu Wei, John L Cameron, Matthew J Weiss, Michael Goggins, Christopher L Wolfgang, Jun Yu, Jin He
BACKGROUND: The outcomes of sporadic pancreatic adenocarcinoma (PDAC) patients with germline mutations of BRCA1/BRCA2 remains unclear. The prognostic significance of BRCA1/BRCA2 mutations on survival is not well established. STUDY DESIGN: We performed targeted next-generation sequencing (NGS) to identify BRCA1/BRCA2 germline mutations in resected sporadic PDAC cases from 2000-2015. Germline BRCA mutation-carriers were matched by age and tumor location to those with BRCA1/BRCA2 wild-type genes from our institutional database...
January 5, 2018: Journal of the American College of Surgeons
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
#6
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/29297111/high-prevalence-of-deleterious-brca1-and-brca2-germline-mutations-in-arab-breast-and-ovarian-cancer-patients
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/29287289/-current-german-and-american-guidelines-for-autologous-fat-grafting-a-transatlantic-comparison
#10
G Felix Broelsch, Sören Könneker, Ramin Ipaktchi, Peter M Vogt
CLINICAL PROBLEM: The renewed clinical interest in fat grafting for both reconstructive and aesthetic purposes prompted the American Society of Plastic Surgeons to establish a Fat Graft Task Force (AFGT) in 2009. Moreover, in 2015, the German Society of Plastic, Reconstructive and Aesthetic Surgeons (DGPRÄC), in cooperation with three relevant medical societies (DDG, DGMKG, DGGG), formulated statements on the provision of strategies for patient management and to guide physicians in clinical decision making, on the basis of the scientific literature, clinical experience and current laws...
December 2017: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/29284708/esr1-methylation-a-liquid-biopsy-based-epigenetic-assay-for-the-follow-up-of-patients-with-metastatic-breast-cancer-receiving-endocrine-treatment
#11
Sofia Mastoraki, Areti Strati, Eleni Tzanikou, Maria Chimonidou, Helen Politaki, Alexandra Voutsina, Amanda Psyrri, Vasilis Georgoulias, Evi S Lianidou
PURPOSE: Liquid biopsy provides real-time monitoring of tumor evolution and response to therapy through analysis of CTCs and plasma-ctDNA. ESR1 epigenetic silencing potentially affects response to endocrine treatment. We evaluated ESR1 methylation in CTCs and paired plasma-ctDNA. We evaluated ESR1 methylation in CTCs and paired plasma-ctDNA as a potential biomarker for response to everolimus/exemestane treatment. EXPERIMENTAL DESIGN: A highly sensitive and specific real-time MSP assay for ESR1 methylation was developed and validated in: a) 65 primary breast tumors (FFPEs), b) EpCAM+ CTC-fractions (122 patients and 30 healthy donors; HD), c) plasma-ctDNA (108 patients and 30HD), d) in CTCs (CellSearch®) and in paired plasma-ctDNA for 58 BrCa patients...
December 28, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29259370/pancreatic-acinar-cell-carcinoma-a-review-on-molecular-profiling-of-patient-tumors
#12
REVIEW
Ahmad Al-Hader, Rami N Al-Rohil, Haiyong Han, Daniel Von Hoff
Pancreatic carcinomas with acinar differentiation are rare, accounting for 1%-2% of adult pancreatic tumors; they include pancreatic acinar cell carcinoma (PACC), pancreatoblastoma, and carcinomas of mixed differentiation. Patients with PACC have a prognosis better than pancreatic ductal adenocarcinomas but worse than pancreatic neuroendocrine tumors. Reports of overall survival range from 18 to 47 mo. A literature review on PACCs included comprehensive genomic profiling and whole exome sequencing on a series of more than 70 patients as well as other diagnostic studies including immunohistochemistry...
December 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29251678/novel-poly-adp-ribose-polymerase-inhibitor-combination-strategies-in-ovarian-cancer
#13
Kelly E McCann
PURPOSE OF REVIEW: The recent United States Food and Drug Administration approvals of niraparib and olaparib as maintenance monotherapy for platinum-sensitive, high-grade ovarian cancers independent of BRCA status reflect a willingness to seek indications for poly-ADP-ribose polymerase (PARP) inhibitors beyond cancers with deleterious breast cancer 1 and breast cancer 2 mutations. In this review, I describe the rationale behind current PARP combination clinical trials with chemotherapies, angiogenesis inhibitors, cell cycle checkpoint inhibitors, and inhibitors of the phosphoinositide 3-kinase/AK thymoma/mechanistic target of rapamycin pathway...
February 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29244844/diagnostic-markers-for-the-detection-of-ovarian-cancer-in-brca1-mutation-carriers
#14
Daphne Gschwantler-Kaulich, Sigrid Weingartshofer, Christine Rappaport-Fürhauser, Robert Zeilinger, Dietmar Pils, Daniela Muhr, Elena I Braicu, Marie-Therese Kastner, Yen Y Tan, Lorenz Semmler, Jalid Sehouli, Christian F Singer
BACKGROUND: Screening for ovarian cancer (OC) in women at high risk consists of a combination of carbohydrate antigen 125 (CA125) and transvaginal ultrasound, despite their low sensitivity and specificity. This could be improved by the combination of several biomarkers, which has been shown in average risk patients but has not been investigated until now in female BRCA mutation carriers. METHODS: Using a multiplex, bead-based, immunoassay system, we analyzed the concentrations of leptin, prolactin, osteopontin, insulin-like growth factor II, macrophage inhibitory factor, CA125 and human epididymis antigen 4 in 26 healthy wild type women, 26 healthy BRCA1 mutation carriers, 28 wildtype OC patients and 26 OC patients with BRCA1 mutation...
2017: PloS One
https://www.readbyqxmd.com/read/29241717/provider-discussions-of-genetic-tests-with-u-s-women-at-risk-for-a-brca-mutation
#15
Leland E Hull, Jennifer S Haas, Steven R Simon
INTRODUCTION: The U.S. Preventive Services Task Force recommends that primary care providers screen unaffected women with a family history of BRCA mutation-associated cancers, but without a personal history of BRCA-related cancer, for referral to genetic counseling and potential genetic testing. METHODS: The 2015 National Health Interview Survey was analyzed in January 2017 to determine the rates at which unaffected adult women with a positive family history of BRCA-related cancers, assessed using the Family History Screen-7, reported discussing genetic testing with a provider, using genetic counseling services, and having genetic testing for increased cancer risk...
December 11, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29238749/a-feasibility-study-of-neoadjuvant-talazoparib-for-operable-breast-cancer-patients-with-a-germline-brca-mutation-demonstrates-marked-activity
#16
J K Litton, M Scoggins, D L Ramirez, R K Murthy, G J Whitman, K R Hess, B E Adrada, S L Moulder, C H Barcenas, V Valero, J Schwartz Gomez, E A Mittendorf, A Thompson, T Helgason, G B Mills, H Piwnica-Worms, B K Arun
This study was undertaken to determine the feasibility of enrolling breast cancer patients on a single-agent-targeted therapy trial before neoadjuvant chemotherapy. Specifically, we evaluated talazoparib in patients harboring a deleterious BRCA mutation (BRCA+). Patients with a germline BRCA mutation and ≥1 cm, HER2-negative primary tumors were eligible. Study participants underwent a pretreatment biopsy, 2 months of talazoparib, off-study core biopsy, anthracycline, and taxane-based chemotherapy ± carboplatin, followed by surgery...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/29223478/phase-ii-trial-of-veliparib-in-patients-with-previously-treated-brca-mutated-pancreas-ductal-adenocarcinoma
#17
Maeve A Lowery, David P Kelsen, Marinela Capanu, Sloane C Smith, Jonathan W Lee, Zsofia K Stadler, Malcolm J Moore, Hedy L Kindler, Talia Golan, Amiel Segal, Hannah Maynard, Ellen Hollywood, MaryEllen Moynahan, Erin E Salo-Mullen, Richard Kinh Gian Do, Alice P Chen, Kenneth H Yu, Laura H Tang, Eileen M O'Reilly
PURPOSE: BRCA-associated cancers have increased sensitivity to poly(ADP-ribose) polymerase inhibitors (PARPis). This single arm, non-randomised, multicentre phase II trial evaluated the response rate of veliparib in patients with previously treated BRCA1/2- or PALB2-mutant pancreatic adenocarcinoma (PDAC). METHODS: Patients with stage III/IV PDAC and known germline BRCA1/2 or PALB2 mutation, 1-2 lines of treatment, Eastern Cooperative Oncology Group 0-2, were enrolled...
December 7, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29216337/brca-1-and-2-mutation-status-the-elephant-in-the-room-during-oncofertility-counseling-for-young-breast-cancer-patients
#18
S Paluch-Shimon, F A Peccatori
No abstract text is available yet for this article.
December 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29207007/fertility-preservation-in-women-harboring-deleterious-brca-mutations-ready-for-prime-time
#19
Fedro Alessandro Peccatori, Giorgia Mangili, Alice Bergamini, Francesca Filippi, Fabio Martinelli, Federica Ferrari, Stefania Noli, Emanuela Rabaiotti, Massimo Candiani, Edgardo Somigliana
Fertility issues have become critical in the management and counseling of BRCA mutation carriers. In this setting four points deserve consideration. (1) Women in general lose their ability to conceive at a mean age of 41 years, thus the suggested policy of prophylactic bilateral salpingo-oophorectomy at age 40 for BRCA mutation carriers does not affect the chances of natural pregnancy. Conversely, if the procedure is chosen at 35 years old, oocyte cryopreservation prior to surgery should be considered. (2) Some evidence suggests that ovarian reserve may actually be partly reduced in BRCA mutations carriers and that the mutation may affect ovarian responsiveness to stimulation...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29206279/the-risk-of-breast-cancer-in-brca1-and-brca2-mutation-carriers-without-a-first-degree-relative-with-breast-cancer
#20
K A Metcalfe, J Lubinski, J Gronwald, T Huzarski, J McCuaig, H T Lynch, B Karlan, W D Foulkes, C F Singer, S L Neuhausen, L Senter, A Eisen, P Sun, S A Narod
The objective of this study was to estimate the lifetime risk of breast cancer in women with a BRCA1 or BRCA2 mutation with and without at least one first-degree relative with breast cancer. A total of 2835 women with a BRCA1 or BRCA2 mutation were followed. Age- and gene-specific breast cancer rates were calculated. The relative risks of breast cancer for subjects with a family history of breast cancer, compared to no family history were calculated. The mean age at baseline was 41.1 years, and they were followed for a mean of 6...
December 5, 2017: Clinical Genetics
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