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Hereditary breast and ovarian cancer

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https://www.readbyqxmd.com/read/28791541/cancer-counseling-of-low-income-limited-english-proficient-latina-women-using-medical-interpreters-implications-for-shared-decision-making
#1
Daniella Kamara, Jon Weil, Janey Youngblom, Claudia Guerra, Galen Joseph
In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28763932/-the-progress-and-prospect-of-application-of-genetic-testing-technology-based-gene-detection-technology-in-the-diagnosis-and-treatment-of-hereditary-cancer
#2
J X He, Y F Jiang
Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors...
August 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28738860/germline-emsy-sequence-alterations-in-hereditary-breast-cancer-and-ovarian-cancer-families
#3
Kirsi M Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi, Satu-Leena Laasanen, Johanna Schleutker
BACKGROUND: BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancer-associated chromosomal region 11q13. The EMSY gene encodes a BRCA2-interacting protein that has been implicated in DNA damage repair and genomic instability. We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. The present study describes the first EMSY screening in patients with high familial risk for this disease...
July 24, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28737998/examination-of-the-patient-focused-impact-of-cancer-telegenetics-among-a-rural-population-comparison-with-traditional-in-person-services
#4
Nan M Solomons, Amanda E Lamb, Frances L Lucas, Eileen F McDonald, Susan Miesfeldt
BACKGROUND: Telecommunication models promise to improve access to cancer genetic counseling. Little is known about their impact among the geographically underserved. This work examined knowledge and emotional outcomes and attitudes/beliefs regarding cancer telegenetic services (via live-interactive videoconferencing) in Maine. MATERIALS AND METHODS: Cancer telegenetic patients seen at two remote sites and control (in-person) patients responded to pre-/postsurveys assessing care impact on hereditary breast and ovarian cancer (HBOC) knowledge and emotional health, ease of access to services, and telegenetics satisfaction/acceptability...
July 21, 2017: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
https://www.readbyqxmd.com/read/28730229/molecular-analysis-of-brca1-and-brca2-genes-by-next-generation-sequencing-and-ultrastructural-aspects-of-breast-tumor-tissue
#5
Corina Elena Mihalcea, Ana Maria Moroşanu, Daniela Murăraşu, Liliana Puiu, Sabin Aurel Cinca, Silviu Cristian Voinea, Nicolae Mirancea
In this paper, we focus our interest on the dynamics alterations of the tumor-stroma interface at the ultrastructural level and to detect BRCA1 and BRCA2 mutations using next generation sequencing (NGS) of breast tumor tissue. Electron microscopic investigation revealed some peculiar infrastructural alterations of the tumor cells per se as well as of the tumor-stroma interface: invadopodia, shedding microvesicles, altered morphology and reduced number of telocytes, different abnormalities of the microvasculature...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28717669/pitfalls-in-genetic-testing-a-case-of-a-snp-in-primer-annealing-region-leading-to-allele-dropout-in-brca1
#6
Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, Raquel Stabellini, Dirce Maria Carraro
BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR-based screening techniques, such as capillary sequencing and next-generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Single-nucleotide polymorphisms (SNPs) constitute a vast source of variation in the human genome and represent a risk for misdiagnosis in genetic testing, since the presence of a SNP in primer-annealing sites may cause false negative results due to allele dropout...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28709830/pathologic-findings-in-breast-fallopian-tube-and-ovary-specimens-in-non-brca-hereditary-breast-and-or-ovarian-cancer-syndromes-a-study-of-18-patients-with-deleterious-germline-mutations-in-rad51c-bard1-brip1-palb2-mutyh-or-chek2
#7
J Kenneth Schoolmeester, Ann M Moyer, McKinsey L Goodenberger, Gary L Keeney, Jodi M Carter, Jamie N Bakkum-Gamez
Germline BRCA mutations account for a significant proportion of genetic/familial risk of breast and ovarian cancer (GBOC) susceptibility, but a broader spectrum of GBOC susceptibility genes has emerged in recent years. Genotype to phenotype correlations are known for some established forms of GBOC, however whether such correlations exist for less common GBOC variants is unclear. We reviewed our institution's experience with non-BRCA GBOC, looking specifically for trends in pathologic and clinical features. Eighteen women with deleterious germline mutations in RAD51C (5 patients), BARD1 (1 patient), BRIP1 (2 patients), PALB2 (3 patients), MUTYH (2 patients) or CHEK2 (5 patients) were identified between January 2011 and December 2016...
July 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/28706762/metastatic-breast-cancer-with-brca-mutation-discovered-by-next-generation-sequencing-responding-to-olaparib
#8
Wajeeha Rizvi, Phu Truong, Quoc Truong
Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) mutations are associated with hereditary breast and ovarian cancer syndromes (HBOC). However, certain individuals with breast cancer do not meet high-risk factors for hereditary breast cancer screening based on age, family history, and biology of malignancy. We present a patient with relapsed breast cancer who developed progressive disease with significant tumor burden causing a recurrent pleural effusion. Next-generation sequencing (NGS) done on a tumor biopsy was positive for the BRCA2 mutation...
June 11, 2017: Curēus
https://www.readbyqxmd.com/read/28702897/hereditary-diffuse-gastric-cancer-and-lynch-syndromes-in-a-brca1-2-negative-breast-cancer-patient
#9
Scolastica W Njoroge, Kelly R Burgess, Melody A Cobleigh, Hussein H Alnajar, Paolo Gattuso, Lydia Usha
INTRODUCTION: Genetic counseling and testing is recommended for women with a personal and/or family history of breast and other cancers (ovarian, pancreatic, male breast and others). Mutations in the BRCA1 and BRCA2 genes (BRCA1/2) are the most common causes of hereditary breast and ovarian cancer. Additional genetic counseling and testing with a multi-gene panel may be considered in breast cancer patients who tested negative for mutations in these two genes. In about 11% of BRCA1/2-negative patients, further genetic testing reveals pathogenic mutations in other high or moderate cancer risk genes...
July 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28690658/influence-of-the-angelina-jolie-announcement-and-insurance-reimbursement-on-practice-patterns-for-hereditary-breast-cancer
#10
Jihyoun Lee, Sungwon Kim, Eunyoung Kang, Suyeon Park, Zisun Kim, Min Hyuk Lee
Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database...
June 2017: Journal of Breast Cancer
https://www.readbyqxmd.com/read/28685474/novel-brca1-splice-site-mutation-in-ovarian-cancer-patients-of-slavic-origin
#11
Ana Krivokuca, Vita Setrajcic Dragos, Ljiljana Stamatovic, Ana Blatnik, Ivana Boljevic, Vida Stegel, Jelena Rakobradovic, Petra Skerl, Stevo Jovandic, Mateja Krajc, Mirjana Brankovic Magic, Srdjan Novakovic
Mutations in breast cancer susceptibility gene 1 (BRCA1) lead to defects in a number of cellular pathways including DNA damage repair and transcriptional regulation, resulting in the elevated genome instability and predisposing to breast and ovarian cancers. We report a novel mutation LRG_292t1:c.4356delA,p.(Ala1453Glnfs*3) in the 12th exon of BRCA1, in the splice site region near the donor site of intron 12. It is a frameshift mutation with the termination codon generated on the third amino acid position from the site of deletion...
July 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28685084/current-condition-of-genetic-medicine-for-hereditary-breast-cancer
#12
Hiroko Terui-Kohbata, Masayuki Yoshida
BRCA1 or BRCA2 (BRCA1/2) germline mutations, which cause hereditary breast and ovarian cancer syndrome, have been studied to develop targeted therapies for these associated cancer types. The BRCA1/2 test has been implemented in more than one hundred medical facilities in a clinical setting in Japan. The purpose of the current study is to document the prevalence and the awareness of genetic medicine for all hereditary breast cancer (HBC) including the BRCA1/2 test in Japan. The self-administered questionnaire was sent to 120 medical facilities where the BRCA1/2 test was provided, and 83 health care professionals participated (response rate, 69...
July 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28656489/detection-of-brca1-gross-rearrangements-by-droplet-digital-pcr
#13
Elena V Preobrazhenskaya, Ilya V Bizin, Ekatherina Sh Kuligina, Alla Yu Shleykina, Evgeny N Suspitsin, Olga A Zaytseva, Elena I Anisimova, Sergey A Laptiev, Tatiana V Gorodnova, Alexey M Belyaev, Evgeny N Imyanitov, Anna P Sokolenko
PURPOSE: Large genomic rearrangements (LGRs) constitute a significant share of pathogenic BRCA1 mutations. Multiplex ligation-dependent probe amplification (MLPA) is a leading method for LGR detection; however, it is entirely based on the use of commercial kits, includes relatively time-consuming hybridization step, and is not convenient for large-scale screening of recurrent LGRs. MATERIALS AND METHODS: We developed and validated the droplet digital PCR (ddPCR) assay, which covers the entire coding region of BRCA1 gene and is capable to precisely quantitate the copy number for each exon...
June 27, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#14
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
June 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#15
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28611536/germline-mutations-in-triple-negative-breast-cancer
#16
REVIEW
Eric Hahnen, Jan Hauke, Christoph Engel, Guido Neidhardt, Kerstin Rhiem, Rita K Schmutzler
Triple-negative breast cancer (TNBC) is associated with a poor prognosis and defines a subgroup of patients who do not benefit from endocrine or anti-HER2 therapy. Rather than being a biological entity, TNBC represents a heterogeneous disease, and further subtyping is necessary to establish targeted therapies. Germline mutational status may serve as a robust biomarker predicting therapy response, especially with respect to compounds challenging the DNA repair machinery. Patients with TNBC usually show an early onset of the disease, as well as a positive family history of breast and/or ovarian cancer in more than one third of all cases, which suggests that TNBC is closely associated with a hereditary disease cause...
March 2017: Breast Care
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#17
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28577564/high-frequency-of-the-recurrent-c-1310_1313delaaga-brca2-mutation-in-the-north-east-of-morocco-and-implication-for-hereditary-breast-ovarian-cancer-prevention-and-control
#18
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
BACKGROUND: To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan patients, and recently we reported a further BRCA2 mutation (c.1310_1313delAAGA; p.Lys437IlefsX22) in three unrelated patients, all from the North-East of the country. We aimed in this study to evaluate the frequency and geographic distribution of this BRCA2 frameshift mutation, in order to access its use as the first-line BRCA genetic testing strategy for Moroccan patients...
June 2, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28573517/video-education-on-hereditary-breast-and-ovarian-cancer-hboc-for-physicians-an-interventional-study
#19
Bhuma Krishnamachari, Mahin Rehman, Jason E Cohn, Vivian Chan, Neil Modi, Ofri Leitner, Kelly Tangney, April O'Connor, William Blazey, Sharon Koehler, David Tegay
The National Comprehensive Cancer Network (NCCN) guidelines are the gold standard in hereditary cancer risk assessment, screening, and treatment. A minority of physicians follow NCCN guidelines for BRCA1 or BRCA2 mutations. This study assesses the impact of an interventional educational program on HBOC in terms of knowledge. Physicians were sent an invite to join either an intervention survey (web-training offered prior to the knowledge survey) or control survey (web-training offered after the knowledge survey)...
June 1, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28561672/pancreatic-adenocarcinoma-improving-prevention-and-survivorship
#20
Davendra P S Sohal, Field F Willingham, Massimo Falconi, Kara L Raphael, Stefano Crippa
Pancreatic cancer is a growing problem in oncology, given slowly rising incidence and continued suboptimal outcomes. A concerted effort to reverse this tide will require prevention, early diagnosis, and improved systemic therapy for curable disease. We focus on these aspects in detail in this study. Hereditary pancreatic cancer is an underappreciated area. With the growing use of genomics (both somatic and germline) in cancer care, there is increasing recognition of hereditary pancreatic cancer cases: around 10% of all pancreatic cancer may be related to familial syndromes, such as familial atypical multiple mole and melanoma (FAMMM) syndrome, hereditary breast and ovarian cancer, Lynch syndrome, and Peutz-Jeghers syndrome...
2017: American Society of Clinical Oncology Educational Book
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