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Hereditary ovarian cancer review

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https://www.readbyqxmd.com/read/27899185/genetic-predisposition-in-gynecologic-cancers
#1
REVIEW
Molly S Daniels, Karen H Lu
This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk-reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome...
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
#2
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/27886412/cowden-syndrome-serendipitous-diagnosis-in-patients-with-significant-breast-disease-case-series-and-literature-review
#3
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/27861200/imaging-of-hereditary-tumors-of-the-female-genital-system
#4
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
https://www.readbyqxmd.com/read/27803593/association-between-basal-like-phenotype-and-brca1-2-germline-mutations-in-korean-breast-cancer-patients
#5
J Jung, E Kang, J M Gwak, A N Seo, S Y Park, A S Lee, H Baek, S Chae, E K Kim, S W Kim
INTRODUCTION: BRCA mutation testing allows index patients and their families to be provided with appropriate cancer risk-reduction strategies. Because of the low prevalence of BRCA mutations in unselected breast cancer patients and the high cost of genetic testing, it is important to identify the subset of women who are likely to carry BRCA mutations. In the present study, we examined the association between BRCA1/2 germline mutations and the immunohistochemical features of breast cancer...
October 2016: Current Oncology
https://www.readbyqxmd.com/read/27753056/prevention-and-screening-in-hereditary-breast-and-ovarian-cancer
#6
Simon B Zeichner, Christine Stanislaw, Jane L Meisel
In recent years, we have learned a great deal about pathogenic mutations that increase the risk of breast and ovarian cancer, particularly mutations in the BRCA1 and BRCA2 genes. Here we review current guidelines on breast and ovarian cancer screening, prophylactic surgery, and other risk-reduction strategies in patients with these mutations, and we detail the data that drive these recommendations. We also discuss guidelines on screening and management for other cancers associated with BRCA1 and BRCA2, such as male breast cancer, pancreatic cancer, and prostate cancer...
October 15, 2016: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/27732944/germline-mutations-in-japanese-familial-pancreatic-cancer-patients
#7
Erina Takai, Shinichi Yachida, Kyoko Shimizu, Junji Furuse, Emi Kubo, Akihiro Ohmoto, Masami Suzuki, Ralph H Hruban, Takuji Okusaka, Chigusa Morizane, Toru Furukawa
Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC patients who had at least one first-degree relative with PDAC. There were no significant differences between the FPC cases and sporadic cases in terms of gender, age, tumor location, stage, family history of any cancer except PDAC, and personal history of smoking, other cancers, diabetes mellitus and chronic pancreatitis...
October 6, 2016: Oncotarget
https://www.readbyqxmd.com/read/27642480/-lynch-syndrome-case-report-and-review-of-the-literature
#8
Laila Bouguenouch, Imane Samri, Khadija Belhassan, Hanane Sayel, Meriame Abbassi, Sanae Bennis, Dafr Allah Benajah, Adil Ibrahimi, Afaf Amarti, Karim Ouldim
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancers. It increases cancer susceptibility, the risk of colorectal cancer in first-degree, endometrial cancer in women, and to a lesser extent, other cancers (ovarian, small bowel, stomach, urinary tract and hepatobiliary). Thus, the cumulative risk of developing colorectal cancer or endometrial cancer at the age of 80 years rises to 20 and 40% respectively. These cancers are characterized by a positive family history, their occurrence at an early age, and by the development of metachronous cancers in the same individual...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27550963/defects-in-homologous-recombination-repair-behind-the-human-diseases-fa-and-hboc
#9
Yoko Katsuki, Minoru Takata
Hereditary breast and ovarian cancer (HBOC) syndrome and a rare childhood disorder Fanconi anemia (FA) are caused by homologous recombination (HR) defects, and some of the causative genes overlap. Recent studies in this field have led to the exciting development of PARP inhibitors as novel cancer therapeutics and have clarified important mechanisms underlying genome instability and tumor suppression in HR-defective disorders. In this review, we provide an overview of the basic molecular mechanisms governing HR and DNA crosslink repair, highlighting BRCA2, and the intriguing relationship between HBOC and FA...
October 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27530527/changing-patterns-of-referrals-and-outcomes-of-genetic-participation-in-gynaecological-oncology-multidisciplinary-care
#10
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
BACKGROUND: Genetic participation in gynaecological oncology multidisciplinary team meetings (MDT) may identify the sentinel cancer in women with hereditary breast-ovarian cancer syndrome or Lynch syndrome. AIMS: To identify the changing patterns of genetic referral from 2010 to 2014 and the outcomes of referrals through clinical MDT case review. MATERIALS AND METHODS: Medical records of cases of gynaecological cancer presented at the MDT meetings and genetics databases were reviewed to determine the frequency and outcomes of recommendations for genetic referral between 2010 and 2014...
December 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27515922/hereditary-breast-and-ovarian-cancer-new-genes-in-confined-pathways
#11
Finn Cilius Nielsen, Thomas van Overeem Hansen, Claus Storgaard Sørensen
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making...
September 2016: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/27417602/expert-and-advocacy-group-consensus-findings-on-the-horizon-of-public-health-genetic-testing
#12
Stephen M Modell, Karen Greendale, Toby Citrin, Sharon L R Kardia
DESCRIPTION: Among the two leading causes of death in the United States, each responsible for one in every four deaths, heart disease costs Americans $300 billion, while cancer costs Americans $216 billion per year. They also rank among the top three causes of death in Europe and Asia. In 2012 the University of Michigan Center for Public Health and Community Genomics and Genetic Alliance, with the support of the Centers for Disease Control and Prevention Office of Public Health Genomics, hosted a conference in Atlanta, Georgia to consider related action strategies based on public health genomics...
2016: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/27276934/the-clinical-utility-of-next-generation-sequencing-results-in-a-community-based-hereditary-cancer-risk-program
#13
A E Bunnell, C A Garby, E J Pearson, S A Walker, L E Panos, Joanne L Blum
Since the 2013 Supreme Court ruling on BRCA1/BRCA2 patenting, hereditary cancer gene panels now include BRCA1 and BRCA2, making these panels an option for first-tier testing. However, questions remain about the clinical utility and implications of these panels for medical management with inclusion of genes of unknown to moderate penetrance. To better understand how use of these panels affected our practice, we reviewed patients who underwent testing in our clinic from July 1, 2013 through May 23, 2014. Indications for testing included personal and/or family history of breast and/or ovarian cancer...
June 9, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27249773/how-far-do-we-go-with-genetic-evaluation-gene-panel-and-tumor-testing
#14
Filipa Lynce, Claudine Isaacs
The traditional model by which an individual was identified as harboring a hereditary susceptibility to cancer was to test for a mutation in a single gene or a finite number of genes associated with a particular syndrome (e.g., BRCA1 and BRCA2 for hereditary breast and ovarian cancer or mismatch repair genes for Lynch syndrome). The decision regarding which gene or genes to test for was based on a review of the patient's personal medical history and their family history. With advances in next-generation DNA sequencing technology, offering simultaneous testing for multiple genes associated with a hereditary susceptibility to cancer is now possible...
2016: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/27200296/ovarian-cancer-the-fallopian-tube-as-the-site-of-origin-and-opportunities-for-prevention
#15
REVIEW
Sophia H L George, Ruslan Garcia, Brian M Slomovitz
High-grade serous carcinoma (HGSC) is the most common and aggressive histotype of epithelial ovarian cancer (EOC), and it is the predominant histotype associated with hereditary breast and ovarian cancer syndrome (HBOC). Mutations in BRCA1 and BRCA2 are responsible for most of the known causes of HBOC, while mutations in mismatch repair genes and several genes of moderate penetrance are responsible for the remaining known hereditary risk. Women with a history of familial ovarian cancer or with known germline mutations in highly penetrant genes are offered the option of risk-reducing surgery that involves the removal of the ovaries and fallopian tubes (salpingo-oophorectomy)...
2016: Frontiers in Oncology
https://www.readbyqxmd.com/read/27142770/japan-society-of-gynecologic-oncology-guidelines-2015-for-the-treatment-of-ovarian-cancer-including-primary-peritoneal-cancer-and-fallopian-tube-cancer
#16
Shinichi Komiyama, Hidetaka Katabuchi, Mikio Mikami, Satoru Nagase, Aikou Okamoto, Kiyoshi Ito, Kenichiro Morishige, Nao Suzuki, Masanori Kaneuchi, Nobuo Yaegashi, Yasuhiro Udagawa, Hiroyuki Yoshikawa
The fourth edition of the Japan Society of Gynecologic Oncology guidelines for the treatment of ovarian cancer including primary peritoneal cancer and fallopian tube cancer was published in 2015. The guidelines contain seven chapters and six flow charts. The major changes in this new edition are as follows-(1) the format has been changed from reviews to clinical questions (CQ), and the guidelines for optimal clinical practice in Japan are now shown as 41 CQs and answers; (2) the 'flow charts' have been improved and placed near the beginning of the guidelines; (3) the 'basic points', including tumor staging, histological classification, surgical procedures, chemotherapy, and palliative care, are described before the chapter; (4) the FIGO surgical staging of ovarian cancer, fallopian tube cancer, and primary peritoneal cancer was revised in 2014 and the guideline has been revised accordingly to take the updated version of this classification into account; (5) the procedures for examination and management of hereditary breast and ovarian cancer are described; (6) information on molecular targeting therapy has been added; (7) guidelines for the treatment of recurrent cancer based on tumor markers alone are described, as well as guidelines for providing hormone replacement therapy after treatment...
June 2016: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27016223/the-genetic-prediction-of-risk-for-gynecologic-cancers
#17
REVIEW
Leslie M Randall, Bhavana Pothuri
Salient to the intent of personalized medicine, hereditary cancer syndromes present significant opportunities in the treatment and prevention of some gynecologic cancers. Mutations in BRCA1, BRCA2, and DNA mismatch repair genes: MLH1, MSH2, MSH6, and PMS2 are important causal agents in hereditary breast and ovarian cancer (HBOC) and Lynch syndromes. Though they only account for an estimated 10-18% of ovarian, tubal, peritoneal, and endometrial cancer cases, inherited cancers are imminently preventable if mutation carriers are identified in a timely manner...
April 2016: Gynecologic Oncology
https://www.readbyqxmd.com/read/26992017/genetic-anticipation-in-brca1-brca2-families-after-controlling-for-ascertainment-bias-and-cohort-effect
#18
Rodrigo Santa Cruz Guindalini, Andrew Song, James D Fackenthal, Olufunmilayo I Olopade, Dezheng Huo
BACKGROUND: Genetic anticipation, the earlier onset of disease in successive generations, has been reported in hereditary breast and ovarian cancer syndrome (HBOC), but little is known about its underlying mechanisms. Ascertainment bias has been suggested as a reason in previous studies. Likewise, cohort effect, which may be caused by environmental factors, can be misinterpreted as genetic anticipation. METHODS: The authors reviewed the pedigrees of 176 kindreds, segregating those with deleterious mutations in breast cancer genes 1 and 2 (BRCA1/BRCA2) who had at least 2 consecutive generations of the same cancer (breast or ovarian)...
June 15, 2016: Cancer
https://www.readbyqxmd.com/read/26981296/metastasis-of-pregnancy-associated-breast-cancer-suspected-to-be-hereditary-breast-and-ovarian-cancer-to-the-brain-diagnosed-at-18-weeks-gestation-a-case-report-and-review-of-the-literature
#19
Tomohiro Okuda, Sakura Yamamoto, Seiki Matsuo, Hisashi Kataoka, Jo Kitawaki
We report a case of pregnancy-associated breast cancer with metastasis to the brain, likely resulting from hereditary breast and ovarian cancer (HBOC). A 35-year-old woman (gravida 2, para 0-1-0-1) underwent a right mastectomy and right axillary dissection after a cesarean section at 30 years of age; her mother died at 47 years of age due to breast cancer. Histopathological examination indicated an invasive ductal carcinoma with triple-negative cancer (cancer stage 2B [pT3N0M0]). The patient refused adjuvant therapy because of the risk of infertility...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/26980575/a-new-paradigm-of-genetic-testing-for-hereditary-breast-ovarian-cancers
#20
REVIEW
Ava Kwong, J W Chen, Vivian Y Shin
INTRODUCTION: Genetic risk factors and family history play an important role in breast cancer development. This review aimed to summarise the current genetic testing approach to hereditary breast/ovarian cancer. METHODS: A systematic literature review was performed by searching the PubMed database. Publications available online until January 2015 that addressed issues related to hereditary breast/ovarian cancer genetic counselling/testing were selected. The search terms used were "familial breast/ovarian cancer", "susceptibility genes", "genetic counselling", and "genetic testing"...
April 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
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