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Hereditary breast and ovarian cancer

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https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#1
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28058502/a-novel-loss-of-function-heterozygous-brca2-c-8946_8947delag-mutation-found-in-a-chinese-woman-with-family-history-of-breast-cancer
#2
Jing Ma, Jichun Yang, Wenjing Jian, Xianming Wang, Deyong Xiao, Wenjun Xia, Likuan Xiong, Duan Ma
INTRODUCTION: Breast cancer is the most frequent female malignancy worldwide. Among them, some cases have hereditary susceptibility in two leading genes, BRCA1 and BRCA2. Heterozygous germ line mutations in them are related with increased risk of breast, ovarian and other cancer, following autosomal dominant inheritance mode. METHODS AND RESULTS: For purpose of early finding, early diagnosis and early treatment, mutation detecting of BRCA1/2 genes was performed in unselected 300 breast or ovarian patients and unaffected women using next-generation sequencing and then confirmed by Sanger sequencing...
January 5, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28051113/a-comprehensive-custom-panel-design-for-routine-hereditary-cancer-testing-preserving-control-improving-diagnostics-and-revealing-a-complex-variation-landscape
#3
Elisabeth Castellanos, Bernat Gel, Inma Rosas, Eva Tornero, Sheila Santín, Raquel Pluvinet, Juan Velasco, Lauro Sumoy, Jesús Del Valle, Manuel Perucho, Ignacio Blanco, Matilde Navarro, Joan Brunet, Marta Pineda, Lidia Feliubadaló, Gabi Capellá, Conxi Lázaro, Eduard Serra
We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data analysis pipeline. The I2HCP panel was developed using a training set of hereditary colorectal cancer, hereditary breast and ovarian cancer and neurofibromatosis patients and reached an accuracy, analytical sensitivity and specificity greater than 99%, which was maintained in a validation set...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28049106/linking-uterine-serous-carcinoma-to-brca1-2-associated-cancer-syndrome-a-meta-analysis-and-case-report
#4
REVIEW
M M de Jonge, A L Mooyaart, M P G Vreeswijk, C D de Kroon, T van Wezel, C J van Asperen, V T H B M Smit, O M Dekkers, T Bosse
BACKGROUND: Uterine serous carcinoma (USC) shows greater morphological, clinical and molecular similarities to high-grade ovarian tubal serous carcinoma than to other types of endometrial cancer. As high-grade ovarian tubal serous carcinoma is known to be associated with BRCA1/2 pathogenic germline mutations (PMs), we aimed to explore whether USC is also a constituent of hereditary breast and ovarian cancer syndrome. METHODS: Pubmed, EMBASE and Web of Science were searched in July 2016 for articles assessing the association between USC and germline BRCA1/2-PMs...
December 31, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/28040716/nccn-guidelines-insights-genetic-familial-high-risk-assessment-breast-and-ovarian-version-2-2017
#5
Mary B Daly, Robert Pilarski, Michael Berry, Saundra S Buys, Meagan Farmer, Susan Friedman, Judy E Garber, Noah D Kauff, Seema Khan, Catherine Klein, Wendy Kohlmann, Allison Kurian, Jennifer K Litton, Lisa Madlensky, Sofia D Merajver, Kenneth Offit, Tuya Pal, Gwen Reiser, Kristen Mahoney Shannon, Elizabeth Swisher, Shaveta Vinayak, Nicoleta C Voian, Jeffrey N Weitzel, Myra J Wick, Georgia L Wiesner, Mary Dwyer, Susan Darlow
The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling for hereditary cancer syndromes and risk management recommendations for patients who are diagnosed with a syndrome. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer. The NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data from publications and abstracts, and reevaluate and update their recommendations...
January 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28009814/a-novel-pathogenic-brca1-splicing-variant-produces-partial-intron-retention-in-the-mature-messenger-rna
#6
Maria Valeria Esposito, Marcella Nunziato, Flavio Starnone, Antonella Telese, Alessandra Calabrese, Giuseppe D'Aiuto, Pietro Pucci, Massimiliano D'Aiuto, Francisco Baralle, Valeria D'Argenio, Francesco Salvatore
About 10% of all breast cancers arise from hereditary mutations that increase the risk of breast and ovarian cancers; and about 25% of these are associated with the BRCA1 or BRCA2 genes. The identification of BRCA1/BRCA2 mutations can enable physicians to better tailor the clinical management of patients; and to initiate preventive measures in healthy carriers. The pathophysiological significance of newly identified variants poses challenges for genetic counseling. We characterized a new BRCA1 variant discovered in a breast cancer patient during BRCA1/2 screening by next-generation sequencing...
December 21, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28009280/three-dimensional-architecture-of-the-human-brca1-a-histone-deubiquitinase-core-complex
#7
Otto J P Kyrieleis, Pauline B McIntosh, Sarah R Webb, Lesley J Calder, Janette Lloyd, Nisha A Patel, Stephen R Martin, Carol V Robinson, Peter B Rosenthal, Stephen J Smerdon
BRCA1 is a tumor suppressor found to be mutated in hereditary breast and ovarian cancer and plays key roles in the maintenance of genomic stability by homologous recombination repair. It is recruited to damaged chromatin as a component of the BRCA1-A deubiquitinase, which cleaves K63-linked ubiquitin chains attached to histone H2A and H2AX. BRCA1-A contributes to checkpoint regulation, repair pathway choice, and HR repair efficiency through molecular mechanisms that remain largely obscure. The structure of an active core complex comprising two Abraxas/BRCC36/BRCC45/MERIT40 tetramers determined by negative-stain electron microscopy (EM) reveals a distorted V-shape architecture in which a dimer of Abraxas/BRCC36 heterodimers sits at the base, with BRCC45/Merit40 pairs occupying each arm...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/27976925/previvors-uncertainty-management-strategies-for-hereditary-breast-and-ovarian-cancer
#8
Marleah Dean, Lindy G Davidson
Individuals with a genetic predisposition to develop hereditary breast and ovarian cancer (HBOC), but who have not been diagnosed with cancer, are referred to as previvors. Although genetic testing may reduce previvors' worries about whether or not they have a high genetic cancer risk, testing positive produces negative emotions and long-term uncertainty-thus requiring the management of uncertainty. Existing research indicates family, friends, and social support networks are limited in their assistance for previvors' uncertainty management...
December 15, 2016: Health Communication
https://www.readbyqxmd.com/read/27957667/clinical-cancer-genetics-disparities-among-latinos
#9
REVIEW
Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I Olivera, Sherly Pardo
The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention...
December 12, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27928164/comparison-between-cagene-5-1-and-6-0-for-brca1-2-mutation-prediction-a-retrospective-study-of-150-brca1-2-genetic-tests-in-517-families-with-breast-ovarian-cancer
#10
Ivana Antonucci, Martina Provenzano, Luca Sorino, Michela Balsamo, Gitana Maria Aceto, Pasquale Battista, David Euhus, Ettore Cianchetti, Patrizia Ballerini, Clara Natoli, Giandomenico Palka, Liborio Stuppia
During the past years, several empirical and statistical models have been developed to discriminate between carriers and non-carriers of germline BRCA1/BRCA2 (breast cancer 1, early onset/breast cancer 2, early onset) mutations in families with hereditary breast or ovarian cancer. Among these, the BRCAPRO or CaGene model is commonly used during genetic counseling, and plays a central role in the identification of potential carriers of BRCA1/2 mutations. We compared performance and clinical applicability of BRCAPRO version 5...
December 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27913932/almost-2-of-spanish-breast-cancer-families-are-associated-to-germline-pathogenic-mutations-in-the-atm-gene
#11
A Tavera-Tapia, L Pérez-Cabornero, J A Macías, M I Ceballos, G Roncador, M de la Hoya, A Barroso, V Felipe-Ponce, R Serrano-Blanch, C Hinojo, M D Miramar-Gallart, M Urioste, T Caldés, S Santillan-Garzón, J Benitez, A Osorio
PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX)...
February 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#12
Veda N Giri, Jennifer L Beebe-Dimmer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clustering of cases among family members...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#13
REVIEW
Erin F Cobain, Kara J Milliron, Sofia D Merajver
Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27886673/in-silico-in-vitro-and-case-control-analyses-as-an-effective-combination-for-analyzing-brca1-and-brca2-unclassified-variants-in-a-population-based-sample
#14
Marta Rodríguez-Balada, Bàrbara Roig, Lourdes Martorell, Mireia Melé, Mònica Salvat, Elisabet Vilella, Joan Borràs, Josep Gumà
Ascertaining the clinical consequences of BRCA1 and BRCA2 variants of uncertain significance (VUS) is currently indispensable for providing effective genetic counseling and preventive actions for families with hereditary breast and ovarian cancer (HBOC). To this end, we conducted a combination of in silico prediction and cDNA splicing analyses of 13 BRCA1 and 10 BRCA2 VUS identified in our cohort as well as a case-control analysis in a population-based sample of 10 recurrent VUS. We observed consistent results between the in silico predictions and sequencing analyses for all analyzed VUS...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886412/cowden-syndrome-serendipitous-diagnosis-in-patients-with-significant-breast-disease-case-series-and-literature-review
#15
Roisin M Heaney, Michael Farrell, Maurice Stokes, Tom Gorey, Dylan Murray
Cowden syndrome (CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS...
November 25, 2016: Breast Journal
https://www.readbyqxmd.com/read/27880748/cdc-grand-rounds-family-history-and-genomics-as-tools-for-cancer-prevention-and-control
#16
Juan L Rodriguez, Cheryll C Thomas, Greta M Massetti, Debra Duquette, Lindsay Avner, John Iskander, Muin J Khoury, Lisa C Richardson
Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1)...
November 25, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27869446/-oncopathological-aspects-of-brca1-and-brca2-genes-inactivation-in-tumors-of-ovary-fallopian-tube-and-pelvic-peritoneum
#17
Petr Škapa, Pavel Dundr
Ovarian carcinoma represents a heterogeneous group of malignant epithelial tumors which could be divided into two fundamental groups: Type I (endometrioid carcinoma, clear cell carcinoma, low grade serous carcinoma, mucinous carcinoma and more rare seromucinous carcinoma and malignant Brenner tumor) and type II (high grade serous carcinoma - HGSC). HGSC is the most frequent ovarian carcinoma which may be etiologically linked to inactivation of tumor suppressor genes BRCA1/2 and TP53 and differs from type I carcinomas by higher aggressiveness, tendency to peritoneal spread and worse prognosis...
2016: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/27869445/-breast-cancer-in-brca1-2-mutation-carriers
#18
Pavel Fabian, Rudolf Nenutil
Inherited mutations in BRCA1 and BRCA2 genes represent the most important cause of hereditary breast cancer. This highly penetrating familial cancer syndrome, including also the onset of ovarian cancer and other malignancies at relatively low age, represents a substantial medical problem. The affected families should be managed actively. When compared to spontaneous tumors, the breast carcinomas in BRCA1 mutation carriers exhibit a relatively different, despite non-specific, phenotype (often triple negative, medullary features) arousing suspicion of hereditary background...
2016: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/27866793/tracking-the-dissemination-of-a-culturally-targeted-brochure-to-promote-awareness-of-hereditary-breast-and-ovarian-cancer-among-black-women
#19
Courtney Lynam Scherr, Linda Bomboka, Alison Nelson, Tuya Pal, Susan Thomas Vadaparampil
OBJECTIVE: Black women have a higher rate of BRCA1 and BRCA2 (BRCA) mutations, compared with other populations, that increases their risk for hereditary breast and ovarian cancer (HBOC). However, Black women are less likely to know about HBOC and genetic testing. Based on a request from a community advisory panel of breast cancer survivors, community leaders and healthcare providers in the Black community, our team developed a culturally targeted educational brochure to promote awareness of HBOC among Black women...
October 31, 2016: Patient Education and Counseling
https://www.readbyqxmd.com/read/27861200/imaging-of-hereditary-tumors-of-the-female-genital-system
#20
Sarah M Rothan, Christine O Menias, Yehia M ElGuindy, Corey T Jensen, Akram Shaaban, Priya Bhosale, Michelle V Lee, Venkata S Katabathina, Khaled M Elsayes
Cancers of the female genital system, particularly endometrial and ovarian cancers, can be associated with hereditary cancer syndromes such as hereditary breast and ovarian cancer and Lynch syndrome. Cancers that are found in the setting of a hereditary cancer syndrome are often unique in presentation, clinical features, and pathologic profiles when compared with sporadic tumors. This article reviews the hereditary cancer syndromes associated with gynecological malignancies, as well as the imaging findings and staging system of endometrial and ovarian cancers...
November 17, 2016: Journal of Computer Assisted Tomography
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