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https://www.readbyqxmd.com/read/29349761/multi-gene-panel-testing-in-breast-cancer-management
#1
Christos Fountzilas, Virginia G Kaklamani
Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the advent of massive parallel next-generation DNA sequencing, simultaneous analysis of multiple genes with a short turnaround time and at a low cost has become possible. The clinical validity and utility of multi-gene panel testing is getting better characterized as more data on the significance of moderate-penetrance genes are collected from large, cancer genetic testing studies...
2018: Cancer Treatment and Research
https://www.readbyqxmd.com/read/29348823/prevalence-of-pathogenic-germline-variants-detected-by-multigene-sequencing-in-unselected-japanese-patients-with-ovarian-cancer
#2
Akira Hirasawa, Issei Imoto, Takuya Naruto, Tomoko Akahane, Wataru Yamagami, Hiroyuki Nomura, Kiyoshi Masuda, Nobuyuki Susumu, Hitoshi Tsuda, Daisuke Aoki
Pathogenic germline BRCA1, BRCA2 (BRCA1/2), and several other gene variants predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC), although variant frequency and relevance information is scarce in Japanese women with OC. Using targeted panel sequencing, we screened 230 unselected Japanese women with OC from our hospital-based cohort for pathogenic germline variants in 75 or 79 OC-associated genes. Pathogenic variants of 11 genes were identified in 41 (17.8%) women: 19 (8.3%; BRCA1), 8 (3...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29346284/double-heterozygosity-for-brca1-pathogenic-variant-and-brca2-polymorphic-stop-codon-k3326x-a-case-report-in-a-southern-italian-family
#3
Raffaele Palmirotta, Domenica Lovero, Luigia Stefania Stucci, Erica Silvestris, Davide Quaresmini, Angela Cardascia, Franco Silvestris
Here, we describe a patient with bilateral breast cancer and melanoma, and with a concomitant double variant, namely p.Gln563Ter in BRCA1 and p.Lys3326Ter in BRCA2. The BRCA2 p.Lys3326Ter (K3326X) (rs11571833) mutation identified in our patient is a debated substitution of thymidine for adenine which is currently regarded as benign polymorphism in main gene databases. Recent studies, however, describe this variant as associated with breast and ovarian tumors. Based on the observation of the cancer's earliest age of onset in this subject, our purpose was to reevaluate this variant according to recent papers indicating a role of powerful modifier of the genetic penetrance...
January 18, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29339979/brca1-and-brca2-mutation-spectrum-an-update-on-mutation-distribution-in-a-large-cancer-genetics-clinic-in-norway
#4
Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Background: Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 68% of BRCA1 mutation carriers at the time. After 15 more years of genetic testing, updated knowledge on the mutation spectrum of both BRCA1 and BRCA2 in Norway is needed...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29337093/breast-cancer-in-young-women-do-brca1-or-brca2-mutations-matter
#5
Peter A Fasching
No abstract text is available yet for this article.
January 11, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29337092/germline-brca-mutation-and-outcome-in-young-onset-breast-cancer-posh-a-prospective-cohort-study
#6
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
#7
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/29335924/brca1-and-brca2-germline-variants-in-breast-cancer-patients-from-the-republic-of-macedonia
#8
Milena Jakimovska, Ivana Maleva Kostovska, Katerina Popovska-Jankovic, Katerina Kubelka-Sabit, Mitko Karadjozov, Liljana Stojanovska, Andreja Arsovski, Snezhana Smichkoska, Emilija Lazarova, Maja Jakimovska Dimitrovska, Dijana Plaseska-Karanfilska
PURPOSE: We aimed to establish the spectrum of BRCA1/2 mutations among the breast cancer (BC) patients from the Republic of Macedonia. METHODS: We used targeted next-generation sequencing (NGS), Sanger DNA sequencing, and multiplex ligation probe amplification analysis (MLPA) to search for point mutations and deletions/duplications involving BRCA1 and BRCA2-coding regions. RESULTS: We have analyzed a total of 313 BC patients, enriched for family history of cancer, early age of onset and bilateral and/or triple negative (TN) BC...
January 15, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29331492/prognostic-value-of-the-expression-of-dna-repair-related-biomarkers-mediated-by-alcohol-in-gastric-cancer-patients
#9
Yiyin Zhang, Hongyang Wu, Feng Yang, Jie Ning, Min Li, Chenchen Zhao, Shuping Zhong, Kangsheng Gu, Hua Wang
Alcohol consumption likely induces gastric carcinogenesis through deregulation of RNA polymerase (Pol) III genes and oxidative damage. Transcription factor IIB-related factor 1 (BRF1) overexpression alleviates RNA Pol III transcription inhibition through breast cancer susceptibility gene 1 (BRCA1). Myeloperoxidase (MPO) involvement in cancer is induced by alcohol-mediated oxidative damage. BRCA1/2 and MPO play key roles in DNA repair. BRCA1 and BRCA2 exert different roles in homologous recombination repair...
January 5, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29330845/the-association-between-smoking-and-cancer-incidence-in-brca1-and-brca2-mutation-carriers
#10
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
#11
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/29325268/-clinical-significance-of-targeting-drug-based-molecular-biomarkers-expression-in-ovarian-clear-cell-carcinoma
#12
M J Li, H R Li, X Cheng, R Bi, X Y Tu, F Liu, L H Chen
Objective: To assess the expression level of targeting drug-based molecular biomarkers in ovarian clear cell carcinoma (OCCC) tissues and its clinical significance. Methods: A total of 63 OCCC patients included 40 primary OCCC and 23 recurrent OCCC for secondary cytoreductive surgery (SCS), who had received primary surgeries at Fudan University Shanghai Cancer Center between January, 2008 and December, 2015 were enrolled, and immunohistochemistry SP method was used to test human epidermal growth factor receptor (EGFR), human epidermal growth factor receptor-2 (HER2), aurora kinase A (AURKA), breast cancer susceptibility gene 1 (BRCA1), BRCA2 and programmed death-ligand 1 (PD-L1)protein expression in paraffin-embedded tissues...
December 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29323669/cost-effectiveness-and-comparative-effectiveness-of-cancer-risk-management-strategies-in-brca1-2-mutation-carriers-a-systematic-review
#13
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/29322795/analysis-of-dna-methylation-and-microrna-expression-in-nut-nuclear-protein-in-testis-midline-carcinoma-of-the-sinonasal-tract-a-clinicopathological-immunohistochemical-and-molecular-genetic-study
#14
J Laco, H Kovarikova, M Chmelarova, H Vosmikova, K Sieglova, I Bubancova, P Dundr, K Nemejcova, J Michalek, P Celakovsky, R Mottl, I Sirak, M Vosmik, I Marek, T Geryk, J Mejzlik, J Satankova, A Ryska
The aim of this study was a detailed clinicopathological investigation of sinonasal NUT midline carcinoma (NMC), including analysis of DNA methylation and microRNA (miRNA) expression. Three (5%) cases of NMC were detected among 56 sinonasal carcinomas using immunohistochemical screening and confirmed by fluorescence in situ hybridization. The series comprised 2 males and 1 female, aged 46, 60, and 65 years. Two tumors arose in the nasal cavity and one in the maxillary sinus. The neoplasms were staged pT1, pT3, and pT4a (all cN0M0)...
2018: Neoplasma
https://www.readbyqxmd.com/read/29318406/prospective-blinded-surveillance-screening-of-swedish-women-with-increased-hereditary-risk-of-breast-cancer
#15
Annelie Liljegren, Anna von Wachenfeldt, Edward Azavedo, Sandra Eloranta, Helene Grundström, Anne Kinhult Ståhlbom, Ann Sundbom, Per Sundén, Gunilla Svane, Dieter Ulitzsch, Brita Arver
PURPOSE: To evaluate the sensitivity and specificity of different screening modalities in women with a family history of breast cancer. METHODS: Our blinded, prospective, comparative cohort analysis included three types of screening, mammography, ultrasound, and clinical breast examination once per year for 6 years. Eligible patients for this study were healthy women with ≥ 17% lifetime risk of breast cancer or with a mutation in BRCA1 or BRCA2. RESULTS: A total of 632 women were screened between 2002 and 2012 (each for 6 years)...
January 9, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29316957/evaluating-the-breast-cancer-predisposition-role-of-rare-variants-in-genes-associated-with-low-penetrance-breast-cancer-risk-snps
#16
Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell
BACKGROUND: Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk. Studies to date suggest that some SNPs alter the expression of the associated genes, which potentially mediates risk modification. On this basis, we hypothesised that some of these genes may be enriched for rare coding variants associated with a higher breast cancer risk. METHODS: The coding regions and exon-intron boundaries of 56 genes that have either been proposed by GWASs to be the regulatory targets of the SNPs and/or located < 500 kb from the risk SNPs were sequenced in index cases from 1043 familial breast cancer families that previously had negative test results for BRCA1 and BRCA2 mutations and 944 population-matched cancer-free control participants from an Australian population...
January 9, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29313279/a-phase-1-study-of-parp-inhibitor-abt-767-in-advanced-solid-tumors-with-brca1-2-mutations-and-high-grade-serous-ovarian-fallopian-tube-or-primary-peritoneal-cancer
#17
Diane A J van der Biessen, Jourik A Gietema, Maja J A de Jonge, Ingrid M E Desar, Martha W den Hollander, Matthew Dudley, Martin Dunbar, Robert Hetman, Camille Serpenti, Hao Xiong, Rajendar K Mittapalli, Kirsten M Timms, Peter Ansell, Christine K Ratajczak, Stacie Peacock Shepherd, Carla M L van Herpen
Purpose This phase 1 study examined safety, pharmacokinetics (PK), and efficacy of the poly(ADP-ribose) polymerase (PARP) inhibitor ABT-767 in patients with advanced solid tumors and BRCA1/2 mutations or with high-grade serous ovarian, fallopian tube, or primary peritoneal cancer. Methods Patients received ABT-767 monotherapy orally until disease progression or unacceptable toxicity. Dose was escalated from 20 mg once daily to 500 mg twice daily (BID). Dose-limiting toxicities, recommended phase 2 dose (RP2D), food effect, objective response rate, and biomarkers predicting response were determined...
January 8, 2018: Investigational New Drugs
https://www.readbyqxmd.com/read/29310832/comprehensive-brca-mutation-analysis-in-the-greek-population-experience-from-a-single-clinical-diagnostic-center
#18
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/29310340/the-first-case-report-of-a-large-deletion-of-the-brca1-gene-in-croatia-a-case-report
#19
Vesna Musani, Ilona Sušac, Petar Ozretić, Domagoj Eljuga, Sonja Levanat
RATIONALE: Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer. PATIENT CONCERNS: In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33. DIAGNOSIS: Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29309945/brca1-brca2-germline-mutation-carriers-and-sporadic-pancreatic-adenocarcinoma
#20
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
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