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Hereditary breast and ovarian cancer

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https://www.readbyqxmd.com/read/29341149/quality-of-life-implications-of-risk-reducing-cancer-surgery
#1
REVIEW
A M Altman, J Y C Hui, T M Tuttle
BACKGROUND: Modern advances in genetic sequencing techniques have allowed for increased availability of genetic testing for hereditary cancer syndromes. Consequently, more people are being identified as mutation carriers and becoming aware of their increased risk of malignancy. Testing is commonplace for many inheritable cancer syndromes, and with that comes the knowledge of being a gene carrier for some patients. With increased risk of malignancy, many guidelines recommend that gene carriers partake in risk reduction strategies, including risk-reducing surgery for some syndromes...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29330845/the-association-between-smoking-and-cancer-incidence-in-brca1-and-brca2-mutation-carriers
#2
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/29314485/factors-influencing-the-decision-to-share-cancer-genetic-results-among-family-members-an-in-depth-interview-study-of-women-in-an-asian-setting
#3
Shao-Tzu Li, Shirley Sun, Désirée Lie, Marie Met-Domestici, Eliza Courtney, Sapna Menon, Geok Hoon Lim, Joanne Ngeow
OBJECTIVE: Reluctance to share hereditary cancer syndrome genetic test results with family is reported among Asian patients. This study aims to explore patient factors influencing result-sharing with family, to improve overall testing uptake. METHODS: Participants were women with a personal/family history of breast and/or ovarian cancer who received a positive, negative, or variant of uncertain significance (VUS) test result. In-depth interviews were conducted to theme saturation to explore facilitators and barriers for sharing results with family...
January 3, 2018: Psycho-oncology
https://www.readbyqxmd.com/read/29310832/comprehensive-brca-mutation-analysis-in-the-greek-population-experience-from-a-single-clinical-diagnostic-center
#4
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/29302806/changes-in-classification-of-genetic-variants-in-brca1-and-brca2
#5
Karin Kast, Pauline Wimberger, Norbert Arnold
INTRODUCTION: Classification of variants of unknown significance (VUS) in the breast cancer genes BRCA1 and BRCA2 changes with accumulating evidence for clinical relevance. In most cases down-staging towards neutral variants without clinical significance is possible. METHODS: We searched the database of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for changes in classification of genetic variants as an update to our earlier publication on genetic variants in the Centre of Dresden...
January 4, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29300382/proposed-outcomes-measures-for-state-public-health-genomic-programs
#6
Debra Lochner Doyle, Mindy Clyne, Juan L Rodriguez, Deborah L Cragun, Laura Senier, Georgia Hurst, Kee Chan, David A Chambers
PurposeTo assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29287922/gynaecological-neoplasms-in-common-familial-syndromes-lynch-and-hboc
#7
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/29282679/the-preventive-intervention-of-hereditary-breast-cancer
#8
Ayong Cao, Liang Huang, Zhimin Shao
Approximately 5-10% of breast cancer is considered to be hereditary. Familial breast cancers exhibit a dominant hereditary pattern, which typically have an early age of onset and are accompanied by symptoms of ovarian cancer, bilateral breast cancer, or male breast cancer. BRCA gene mutation carriers should be regarded as high-risk groups for breast cancer, which necessitates early examination of breast cancer. Studies have built up kinds of predictive models and recommended that female BRCA mutation carriers should receive breast self-test training and take monthly breast self-examination...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29273311/investigating-barriers-to-genetic-counseling-and-germline-mutation-testing-in-women-with-suspected-hereditary-breast-and-ovarian-cancer-syndrome-and-lynch-syndrome
#9
Josephine Shaw, Caroline Bulsara, Paul A Cohen, Madeleine Gryta, Cassandra B Nichols, Lyn Schofield, Sarah O'Sullivan, Nicholas Pachter, Sarah J Hardcastle
OBJECTIVE: The aim of the current study was to explore barriers to genetic counseling and testing in women with gynecological cancers deemed at significant risk of carrying a germline mutation. METHODS: A qualitative study using semi-structured interviews and inductively analysed thematically. Eight patients with ovarian or endometrial cancer participated in individual semi-structured telephone interviews that assessed motivation for genetic counseling and testing, perceived benefits and barriers, timing of the approach, perceptions of the referral process to genetic services and locus of control in relation to cancer and health...
December 12, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/29259228/metabolomics-reveals-novel-blood-plasma-biomarkers-associated-to-the-brca1-mutated-phenotype-of-human-breast-cancer
#10
Bàrbara Roig, Marta Rodríguez-Balada, Sara Samino, Eric W-F Lam, Sandra Guaita-Esteruelas, Ana R Gomes, Xavier Correig, Joan Borràs, Oscar Yanes, Josep Gumà
Hereditary breast and ovarian cancer syndrome (HBOC) is partly due to the presence of mutations in the BRCA genes. Triple-negative (TN) breast cancer (BC) shares histological characteristics with germline BRCA1 mutation-associated tumours. We have investigated the metabolic profiles of human breast cancer (BC) cell lines carrying BRCA1 pathogenic mutations by non-targeted liquid chromatography coupled to mass spectrometry technology. Based on our in vitro results, we performed a targeted metabolomic analysis of plasma samples from TN HBOC patients taking into account their BRCA1 genotype...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29251290/comparing-outcomes-of-genetic-counseling-options-in-breast-and-ovarian-cancer-an-integrative-review%C3%A2
#11
Danielle M Fournier, Angela F Bazzell, Joyce E Dains
PROBLEM IDENTIFICATION: Genetic counseling is vital in helping people at high risk for hereditary breast and ovarian cancer (HBOC) make informed decisions to undergo BRCA testing. Many people, particularly those in rural locations, lack access to these services. This review examines evidence to determine if remotely delivered genetic counseling via telephone or telemedicine is an effective alternative to in-person counseling for people who are at high risk for HBOC.
. LITERATURE SEARCH: A literature review was completed by searching PubMed, SCOPUS, and CINAHL® databases...
January 1, 2018: Oncology Nursing Forum
https://www.readbyqxmd.com/read/29242113/professionals-knowledge-attitude-and-referral-behaviour-of-preimplantation-genetic-diagnosis-for-hereditary-breast-and-ovarian-cancer
#12
J J G Gietel-Habets, C E M de Die-Smulders, V C G Tjan-Heijnen, I A P Derks-Smeets, R van Golde, E Gomez-Garcia, L A D M van Osch
Hereditary breast and ovarian cancer caused by a BRCA1/2 mutation is the most frequent indication for preimplantation genetic diagnosis (PGD) in the Netherlands. The extent to which involved professionals are informed about this option, however, is unclear. The few available international studies mostly represent a limited range of professionals, and suggest that their knowledge about PGD for hereditary cancer syndromes is sparse and referral for PGD is based on limited understanding. A cross-sectional survey assessing awareness, knowledge, acceptability and PGD-referral for BRCA was completed by 188 professionals involved in the field of breast and ovarian cancer or reproduction...
December 6, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#13
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29228718/increased-single-strand-annealing-rather-than-non-homologous-end-joining-predicts-hereditary-ovarian-carcinoma
#14
Miriam Deniz, Tatiana Romashova, Sarah Kostezka, Anke Faul, Theresa Gundelach, Maria Moreno-Villanueva, Wolfgang Janni, Thomas W P Friedl, Lisa Wiesmüller
Mutations in genes encoding DNA double-strand break (DSB) repair components, especially homologous recombination (HR) proteins, were found to predispose to breast and ovarian cancer. Beyond high penetrance risk gene mutations underlying monogenic defects, low risk gene mutations generate polygenic defects, enlarging the fraction of individuals with a predisposing phenotype. DSB repair dysfunction opens new options for targeted therapies; poly (ADP-ribose) polymerase (PARP) inhibitors have been approved for BRCA-mutated and platinum-responsive ovarian cancers...
November 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29215753/combined-annotation-dependent-depletion-cadd-score-for-brca1-2-variants-in-patients-with-breast-and-or-ovarian-cancer
#15
Hiroshi Nakagomi, Hitoshi Mochizuki, Masayuki Inoue, Yosuke Hirotsu, Kenji Amemiya, Ikuko Sakamoto, Satoko Nakagomi, Takeo Kubota, Masao Omata
The utility of Combined Annotation Dependent Depletion (CADD) Score was recently reported to rank the pathogenicity as C-scores ranging 1 to 99 for both convinced deleterious mutations and missense mutations. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for Variant of Uncertain Significance (VUS), which had been major problem of genetic testing for Hereditary Breast and/or Ovarian Cancer (HBOC). We analyzed BRCA1/2 genes for 283 patients with breast and/or ovarian cancer...
December 7, 2017: Cancer Science
https://www.readbyqxmd.com/read/29209897/adaptation-of-couples-living-with-a-high-risk-of-breast-ovarian-cancer-and-the-association-with-risk-reducing-surgery
#16
Rachel Shapira, Erin Turbitt, Lori H Erby, Barbara B Biesecker, William M P Klein, Gillian W Hooker
Women who carry BRCA1/2 mutations have a significantly elevated risk for breast and ovarian cancer. The positive test result and subsequent decisions about risk reducing behaviors can evoke distress, anxiety and worry. Psychological adaptation, or the process of coming to terms with the implications of a health threat, is an understudied construct in BRCA1/2 carriers. Little is known about adaptation and how it relates to other aspects of living at high risk for cancer. Even less is understood about adaptation among partners of BRCA1/2 carriers, and its relationship to adaptation in high risk individuals...
December 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29196360/the-use-of-panel-testing-in-familial-breast-and-ovarian-cancer
#17
Matina Prapa, Joyce Solomons, Marc Tischkowitz
Advances in sequencing technology have led to the introduction of panel testing in hereditary breast and ovarian cancer. While direct-to-consumer testing services have become widely available, the clinical validity of many of the genes on panel tests remains contentious and risk management guidelines are often lacking. This article gives an overview of advantages with panel testing as well as important challenges, including clinical translation of test results.
December 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29185095/management-of-hereditary-breast-and-ovarian-cancer
#18
REVIEW
Hideko Yamauchi, Junko Takei
Hereditary breast and ovarian cancer (HBOC) syndrome represents 5-10% of all breast cancers. In Japan, the HBOC syndrome is frequently diagnosed in patients with breast cancer. Therefore, a treatment strategy combining a plan for existing breast cancer and for reduction of future breast and ovarian cancer risk is necessary. Breast cancer risk-reducing management involves three options-surveillance, chemoprevention, and risk-reducing mastectomy (RRM). RRM can prevent >90% of new breast cancers. Ovarian cancer risk management options are more limited, and risk-reduction salpingo-oophorectomy is the only option since there is no proven effective early detection method available...
November 28, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29179283/-a-survey-of-willingness-about-genetic-counseling-and-tests-in-patients-of-epithelial-ovarian-cancer
#19
L Li, L Qiu, M Wu
Objective: To analyze patients' tendency towards genetics counseling and tests based on a prospective cohort study on hereditary ovarian cancer. Methods: From February 2017 to June 2017, among 220 cases of epithelial ovarian cancer in Peking Union Medical College Hospital, we collected epidemiological, pathological and tendency towards genetics counseling and tests via medical records and questionnaire.All patients would get education about hereditary ovarian cancer by pamphlets and WeChat.If they would receive further counseling, a face to face interview and tests will be given...
November 21, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29177531/knowledge-level-and-educational-needs-of-turkish-oncology-nurses-regarding-the-genetics-of-hereditary-breast-and-ovarian-cancer
#20
Memnun Seven, S Inciser Pasalak, Gulten Guvenc, Gulsah Kok
BACKGROUND: This study evaluated Turkish oncology nurses' knowledge and educational needs regarding genetics of hereditary breast and ovarian cancers. METHOD: An online survey was used to collect data from 104 Turkish oncology nurses. RESULTS: The mean level of knowledge in oncology genetics was 6.74 ± 3.85. The majority of nurses (78.7%) were aware of the fact that family history of ovarian or breast cancer is an important risk factor for ovarian or breast cancer; however, a much smaller percentage (25...
December 1, 2017: Journal of Continuing Education in Nursing
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