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Hereditary breast and ovarian cancer

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https://www.readbyqxmd.com/read/28423363/multiple-gene-panel-analysis-in-a-case-series-of-255-women-with-hereditary-breast-and-ovarian-cancer
#1
Gianluca Tedaldi, Michela Tebaldi, Valentina Zampiga, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Ilaria Cangini, Francesca Pirini, Elisabetta Petracci, Andrea Rocca, Fabio Falcini, Dino Amadori, Daniele Calistri
As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management.BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS...
April 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418444/associations-between-cancer-predisposition-testing-panel-genes-and-breast-cancer
#2
Fergus J Couch, Hermela Shimelis, Chunling Hu, Steven N Hart, Eric C Polley, Jie Na, Emily Hallberg, Raymond Moore, Abigail Thomas, Jenna Lilyquist, Bingjian Feng, Rachel McFarland, Tina Pesaran, Robert Huether, Holly LaDuca, Elizabeth C Chao, David E Goldgar, Jill S Dolinsky
Importance: Germline pathogenic variants in BRCA1 and BRCA2 predispose to an increased lifetime risk of breast cancer. However, the relevance of germline variants in other genes from multigene hereditary cancer testing panels is not well defined. Objective: To determine the risks of breast cancer associated with germline variants in cancer predisposition genes. Design, Setting, and Participants: A study population of 65 057 patients with breast cancer receiving germline genetic testing of cancer predisposition genes with hereditary cancer multigene panels...
April 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28413668/palb2-mutation-in-a-woman-with-bilateral-breast-cancer-a-case-report
#3
Hiroshi Nakagomi, Yosuke Hirotsu, Kenichiro Okimoto, Ikuko Sakamoto, Kenji Amemiya, Satoko Nakagomi, Takeo Kubota, Hitoshi Mochizuki, Masao Omata
Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c...
April 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28411145/current-and-future-role-of-genetic-screening-in-gynecologic-malignancies
#4
REVIEW
Kari L Ring, Christine Garcia, Martha H Thomas, Susan C Modesitt
The world of hereditary cancers has seen an exponential growth in recent years. While Hereditary Breast and Ovarian Cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk reduction strategies...
April 11, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28407996/a-multigene-test-could-cost-effectively-help-extend-life-expectancy-for-women-at-risk-of-hereditary-breast-cancer
#5
Yonghong Li, Andre R Arellano, Lance A Bare, Richard A Bender, Charles M Strom, James J Devlin
BACKGROUND: The National Comprehensive Cancer Network recommends that women who carry gene variants that confer substantial risk for breast cancer consider risk-reduction strategies, that is, enhanced surveillance (breast magnetic resonance imaging and mammography) or prophylactic surgery. Pathogenic variants can be detected in women with a family history of breast or ovarian cancer syndromes by multigene panel testing. OBJECTIVES: To investigate whether using a seven-gene test to identify women who should consider risk-reduction strategies could cost-effectively increase life expectancy...
April 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28390335/a-case-series-of-three-sri-lankan-families-with-hereditary-breast-and-ovarian-cancer-syndrome-due-to-pathogenic-germline-mutations-in-the-brca1-gene
#6
N D Sirisena, B Gautam, N D Dissanayake, V H Dissanayake
No abstract text is available yet for this article.
March 31, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28385363/-when-information-is-not-enough-a-model-for-understanding-brca-positive-previvors-information-needs-regarding-hereditary-breast-and-ovarian-cancer-risk
#7
Marleah Dean, Courtney L Scherr, Meredith Clements, Rachel Koruo, Jennifer Martinez, Amy Ross
OBJECTIVE: To investigate BRCA-positive, unaffected patients' - referred to as previvors - information needs after testing positive for a deleterious BRCA genetic mutation. METHODS: 25 qualitative interviews were conducted with previvors. Data were analyzed using the constant comparison method of grounded theory. RESULTS: Analysis revealed a theoretical model of previvors' information needs related to the stage of their health journey. Specifically, a four-stage model was developed based on the data: (1) pre-testing information needs, (2) post-testing information needs, (3) pre-management information needs, and (4) post-management information needs...
March 10, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28374142/insights-into-brca1-2-genetic-counseling-from-ethnically-diverse-latina-breast-cancer-survivors
#8
Neha Rajpal, Juliana Muñoz, Beth N Peshkin, Kristi D Graves
Despite the disproportionate underuse of genetic counseling and testing for BRCA1/2 (BRCA)-associated hereditary breast and ovarian cancer (HBOC) risk among Latinas, little is known about the associated barriers and facilitators. We conducted in-depth qualitative interviews with 20 at-risk Latina women from diverse backgrounds. Eligible women were diagnosed with breast cancer <50 years, with or without a family history of breast and/or ovarian cancer (>1 first-degree relative diagnosed <50 years)...
April 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28357778/impact-of-panel-gene-testing-for-hereditary-breast-and-ovarian-cancer-on-patients
#9
Heidi S Lumish, Hallie Steinfeld, Carrie Koval, Donna Russo, Elana Levinson, Julia Wynn, James Duong, Wendy K Chung
Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information...
March 29, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28334914/clinical-utility-of-a-self-administered-questionnaire-for-assessment-of-hereditary-gynecologic-cancer
#10
Kenta Masuda, Akira Hirasawa, Haruko Irie-Kunitomi, Tomoko Akahane, Arisa Ueki, Yusuke Kobayashi, Wataru Yamagami, Hiroyuki Nomura, Fumio Kataoka, Eiichiro Tominaga, Kouji Banno, Nobuyuki Susumu, Daisuke Aoki
Background: A patient's medical history and familial cancer history are important information for assessing the risk of hereditary cancer. We have generated a self-administered questionnaire for patients with gynecologic cancer. This pilot study analyzed the usefulness of this questionnaire and the rates of patients that meet the Society of Gynecologic Oncology criteria in ovarian cancer and endometrial cancer patients. Method: Ovarian or endometrial cancer patients were recruited for this study...
December 23, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28333842/review-article-sexuality-and-risk-reducing-salpingo-oophorectomy
#11
Paige E Tucker, Paul A Cohen
INTRODUCTION: Women with familial cancer syndromes such as hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2) and Lynch syndrome are at a significantly increased risk of developing ovarian cancer and are advised to undergo prophylactic removal of their ovaries and fallopian tubes at age 35 to 40 years, after childbearing is complete. METHODS: A comprehensive literature search of studies on risk-reducing salpingo-oophorectomy (RRSO), sexuality, and associated issues was conducted in MEDLINE databases...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28324225/spectrum-of-genetic-variants-of-brca1-and-brca2-in-a-german-single-center-study
#12
Cornelia Meisel, Carolin Eva Sadowski, Daniela Kohlstedt, Katja Keller, Franziska Stäritz, Nannette Grübling, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Norbert Arnold, Pauline Wimberger, Karin Kast
BACKGROUND: Determination of mutation status of BRCA1 and BRCA2 has become part of the clinical routine. However, the spectrum of genetic variants differs between populations. The aim of this study was to deliver a comprehensive description of all detected variants. METHODS: In families fulfilling one of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) criteria for genetic testing, one affected was chosen for analysis. DNA of blood lymphocytes was amplified by PCR and prescreened by DHPLC...
March 21, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28323373/the-impact-of-mental-illness-on-uptake-of-genetic-counseling-for-hereditary-breast-cancer-and-ovarian-cancer-in-a-multiethnic-cohort-of-breast-cancer-patients
#13
Marra G Ackerman, Peter A Shapiro, Austin Coe, Meghna S Trivedi, Katherine D Crew
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review...
March 21, 2017: Breast Journal
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#14
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28314588/risk-of-breast-cancer-after-a-diagnosis-of-ovarian-cancer-in-brca-mutation-carriers-is-preventive-mastectomy-warranted
#15
Jacob McGee, Vasily Giannakeas, Beth Karlan, Jan Lubinski, Jacek Gronwald, Barry Rosen, John McLaughlin, Harvey Risch, Ping Sun, William D Foulkes, Susan L Neuhausen, Joanne Kotsopoulos, Steven A Narod
OBJECTIVE: Preventive breast surgery and MRI screening are offered to unaffected BRCA mutation carriers. The clinical benefit of these two modalities has not been evaluated among mutation carriers with a history of ovarian cancer. Thus, we sought to determine whether or not BRCA mutation carriers with ovarian cancer would benefit from preventive mastectomy or from MRI screening. METHODS: First, the annual mortality rate for ovarian cancer patients was estimated for a cohort of 178 BRCA mutation carriers from Ontario, Canada...
March 14, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28314314/familial-gastrointestinal-stromal-tumor-with-germline-kit-mutations-accompanying-hereditary-breast-and-ovarian-cancer-syndrome
#16
Yuki Sekido, Seiji Ohigashi, Tsuyoshi Takahashi, Naoki Hayashi, Koyu Suzuki, Seiichi Hirota
BACKGROUND: Familial gastrointestinal stromal tumor (GIST) is a rare disease with germline mutations in the c-kit gene (KIT) or platelet-derived growth factor receptor alpha gene (PDGFRA). We had encountered multiple GISTs in the stomach and small intestine during a screening of ovarian cancer for a woman with hereditary breast and ovarian cancer syndrome (HBOC) with breast cancer susceptibility gene II (BRCA2) mutations. The aim of this study was to examine this case in detail. CASE REPORT: A 65-year-old woman diagnosed with HBOC harboring BRCA2 mutations was found to have multiple tumors in the stomach and small intestine by abdominal screening...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28285055/the-role-of-routine-peritoneal-and-omental-biopsies-at-risk-reducing-salpingo-oophorectomy
#17
Heather Miller, Laura S Pipkin, Celestine Tung, Tracilyn R Hall, Ramya P Masand, Matthew L Anderson
STUDY OBJECTIVE: Assess the potential role of peritoneal and omental biopsies in women undergoing risk-reducing salpingo-oopherectomy (RRSO) for prophylactic management of hereditary breast/ovarian cancer syndromes (HBOC). DESIGN: Retrospective observational cohort DESIGN: Classification: II.1 SETTING: Academic gynecology practice PATIENTS: All women who underwent RRSO for a high risk BRCA1/2 mutation or deletion at a single institution between January, 2003 and June, 2016...
March 8, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28283917/risk-perception-and-psychological-distress-in-genetic-counselling-for-hereditary-breast-and-or-ovarian-cancer
#18
G Cicero, R De Luca, P Dorangricchia, G Lo Coco, C Guarnaccia, D Fanale, V Calò, A Russo
Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression...
March 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#19
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28281021/multi-gene-panel-testing-for-hereditary-cancer-predisposition-in-unsolved-high-risk-breast-and-ovarian-cancer-patients
#20
Beth Crawford, Sophie B Adams, Taylor Sittler, Jeroen van den Akker, Salina Chan, Ofri Leitner, Lauren Ryan, Elad Gil, Laura van 't Veer
PURPOSE: Many women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing. We sought to identify specific groups who remain at high risk and evaluate whether they should be offered multi-gene panel testing. METHODS: We tested 300 women on a multi-gene panel who were previously enrolled in a long-term study at UCSF...
March 9, 2017: Breast Cancer Research and Treatment
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