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Hereditary ovarian cancer review

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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
#1
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/28702897/hereditary-diffuse-gastric-cancer-and-lynch-syndromes-in-a-brca1-2-negative-breast-cancer-patient
#2
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
#3
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/28614062/brca-mutations-in-the-manifestation-and-treatment-of-ovarian-cancer
#4
REVIEW
Zimin Pan, Xing Xie
BRCA genes are important for the integrity and stability of genetic material and play key roles in repairing DNA breaks via high fidelity homologous recombination. BRCA mutations are known to predispose carriers to gynecological malignancies, accounting for a majority of hereditary OC cases. Known to be lethal, OC is difficult to detect and control. Testing for BRCA mutations is a key step in the risk assessment, prognosis, treatment and prevention of OC and current clinical guidelines recommend BRCA mutation testing for all OCs of epithelial origin...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28611536/germline-mutations-in-triple-negative-breast-cancer
#5
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
#6
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/28527613/no-344-opportunistic-salpingectomy-and-other-methods-of-risk-reduction-for-ovarian-fallopian-tube-peritoneal-cancer-in-the-general-population
#7
Shannon Salvador, Stephanie Scott, Julie Ann Francis, Anita Agrawal, Christopher Giede
OBJECTIVE: This guideline reviews the potential benefits of opportunistic salpingectomy to prevent the development of high grade serous cancers (HGSC) of the ovary/fallopian tube/peritoneum based on current evidence supporting the fallopian tube origin of disease. INTENDED USERS: Gynaecologists, obstetricians, family doctors, registered nurses, nurse practitioners, residents, and health care providers. TARGET POPULATION: Adult women (18 and older): OPTIONS: Women considering hysterectomy who wish to retain their ovaries in situ have traditionally also retained their fallopian tubes...
June 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28514183/multigene-panel-testing-provides-a-new-perspective-on-lynch-syndrome
#8
Carin R Espenschied, Holly LaDuca, Shuwei Li, Rachel McFarland, Chia-Ling Gau, Heather Hampel
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies...
May 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28508305/recent-advances-in-targeting-dna-repair-pathways-for-the-treatment-of-ovarian-cancer-and-their-clinical-relevance
#9
REVIEW
Katsutoshi Oda, Michihiro Tanikawa, Kenbun Sone, Mayuyo Mori-Uchino, Yutaka Osuga, Tomoyuki Fujii
Poly (ADP-ribose) polymerase (PARP) inhibitors have attracted much attention as one of the major molecular-targeted therapeutics for inhibiting DNA damage response. The PARP inhibitor, olaparib, has been clinically applied for treating certain recurrent ovarian cancer patients with BRCA1/2 mutations in Europe and the United States. It was also designated on 24 March 2017 as an orphan drug in Japan for similar clinical indications. In this review, we discuss (i) the prevalence of BRCA1/2 mutations in ovarian cancer, (ii) clinical trials of PARP inhibitors in ovarian cancer, (iii) genetic counseling for hereditary breast and ovarian cancer patients, and (iv) non-BRCA genes that may be associated with homologous recombination deficiency...
May 15, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28477361/high-grade-serous-carcinoma-hgsc-of-tubo-ovarian-origin-recent-developments
#10
REVIEW
Naveena Singh, W Glenn McCluggage, C Blake Gilks
Extra-uterine high-grade serous carcinoma (HGSC) accounts for most of the morbidity and mortality associated with ovarian carcinoma, and is one of the leading causes of cancer death in women. Until recently our understanding of HGSC was very limited, compared to other common cancers, and it has only been in the last 15 years that we have learned how to accurately diagnose this ovarian carcinoma histotype. Since then, however, there has been rapid progress, with identification of a precursor lesion in the fallopian tube, development of prevention strategies for both those with inherited susceptibility (Hereditary Breast and Ovarian Cancer Syndrome) and without the syndrome, and elucidation of the molecular events important in oncogenesis...
May 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28454658/managing-hereditary-breast-cancer-risk-in-women-with-and-without-ovarian-cancer
#11
REVIEW
Mary Linton Peters, Judy E Garber, Nadine Tung
Current guidelines recommend that all women with ovarian cancer undergo germline genetic testing for BRCA1/2. Increasingly, genetic testing is being performed via panels that include other genes that confer a high or moderate risk of breast cancer. In addition, many women with a family history of breast or ovarian cancer are not found to have a mutation, but may have increased risk of breast cancer for which surveillance and risk reduction strategies are indicated. This review discusses how to assess and manage an increased risk of breast cancer through surveillance, preventive medications, and risk-reducing surgery...
July 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28411145/current-and-future-role-of-genetic-screening-in%C3%A2-gynecologic-malignancies
#12
REVIEW
Kari L Ring, Christine Garcia, Martha H Thomas, Susan C Modesitt
The world of hereditary cancers has seen 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 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333842/review-article-sexuality-and-risk-reducing-salpingo-oophorectomy
#13
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...
May 2017: International Journal of Gynecological Cancer
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
#14
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/28314254/synchronous-endometrial-and-ovarian-cancer-in-young-women-case-report-and-review-of-the-literature
#15
REVIEW
Askin Dogan, Beate Schultheis, Günther A Rezniczek, Ziad Hilal, Cem Cetin, Günther Häusler, Clemens B Tempfer
BACKGROUND: Young women with endometrial cancer (EC) have an increased risk of synchronous ovarian cancer. The prognosis of women with synchronous endometrial and ovarian cancer (SEOC) is good. A high proportion of affected women have hereditary non-polyposis colon cancer syndrome (HNPCC). CASE PRESENTATION: We present the case of a 45-year-old woman with histologically proven endometrioid adenocarcinoma of the endometrium (pT1B, G2, R0 without lymphovascular space invasion)...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#16
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/28277317/brca1-2-germline-missense-mutations-a-systematic-review
#17
Giovanni Corso, Irene Feroce, Mattia Intra, Antonio Toesca, Francesca Magnoni, Manuela Sargenti, Paola Naninato, Pietro Caldarella, Gianmatteo Pagani, Annarita Vento, Paolo Veronesi, Bernardo Bonanni, Viviana Galimberti
Hereditary breast and ovarian cancer is an inherited syndrome associated with BRCA1/2 germline defects. The identified mutations are classified as missense, large deletion, insertion, nonsense and splice-site variants with a deleterious impact on BRCA1/2 function. Part of these forms the well-documented truncating mutations, and missense variants represent a clinical dilemma as the pathogenic role is yet to be clearly shown. In this systematic review, we collected these missense variations with a documented deleterious function...
March 8, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28223669/-diagnosis-and-treatment-of-hboc-syndrome-by-a-breast-surgical-oncologist
#18
Kumiko Kida, Michiko Murai, Hideko Yamauchi
Of all breast cancer cases, 5-10% occur because of inherited germline mutation. For hereditary breast and ovarian cancer (HBOC)syndrome, congenital knowledge and strategies for breast cancer treatment and risk reduction are necessary. Regarding the surgical procedure for the cancer site, the ipsilateral breast tumor recurrence rate following breast-conserving surgery in breast cancers with BRCA1/2 mutation is not significantly higher than that in sporadic breast cancers. In addition, prognosis did not differ according to surgical methods...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28127413/hereditary-cancer-syndromes-in-latino-populations-genetic-characterization-and-surveillance-guidelines
#19
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
Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28040716/nccn-guidelines-insights-genetic-familial-high-risk-assessment-breast-and-ovarian-version-2-2017
#20
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
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