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RAD51D breast ovarian cancer

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https://www.readbyqxmd.com/read/28874143/chek2-c-1100delc-mutation-is-associated-with-an-increased-risk-for-male-breast-cancer-in-finnish-patient-population
#1
Sanna Hallamies, Liisa M Pelttari, Paula Poikonen-Saksela, Antti Jekunen, Arja Jukkola-Vuorinen, Päivi Auvinen, Carl Blomqvist, Kristiina Aittomäki, Johanna Mattson, Heli Nevanlinna
BACKGROUND: Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC). The role of other breast cancer genes in MBC is less well understood. METHODS: In this study, we have genotyped 68 MBC patients for the known breast or ovarian cancer associated mutations in the Finnish population in CHEK2, PALB2, RAD51C, RAD51D, and FANCM genes. RESULTS: CHEK2 c...
September 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28646019/functionally-null-rad51d-missense-mutation-associates-strongly-with-ovarian-carcinoma
#2
Barbara Rivera, Massimo Di Iorio, Jessica Frankum, Javad Nadaf, Somayyeh Fahiminiya, Suzanna L Arcand, David L Burk, Damien Grapton, Eva Tomiak, Valerie Hastings, Nancy Hamel, Rabea Wagener, Olga Aleynikova, Sylvie Giroux, Fadi F Hamdan, Alexandre Dionne-Laporte, George Zogopoulos, Francois Rousseau, Albert M Berghuis, Diane Provencher, Guy A Rouleau, Jacques L Michaud, Anne-Marie Mes-Masson, Jacek Majewski, Susanne Bens, Reiner Siebert, Steven A Narod, Mohammad R Akbari, Christopher J Lord, Patricia N Tonin, Alexandre Orthwein, William D Foulkes
RAD51D is a key player in DNA repair by homologous recombination (HR), and RAD51D truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating RAD51D variants to cancer predisposition remains uncertain. Using deep sequencing and case-control genotyping studies, we show that in French Canadians, the missense RAD51D variant c.620C>T;p.S207L is highly prevalent and is associated with a significantly increased risk for ovarian high-grade serous carcinoma (HGSC; 3...
August 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28591191/reanalysis-of-brca1-2-negative-high-risk-ovarian-cancer-patients-reveals-novel-germline-risk-loci-and-insights-into-missing-heritability
#3
Jaime L Stafford, Gregory Dyson, Nancy K Levin, Sophia Chaudhry, Rita Rosati, Hasini Kalpage, Courtney Wernette, Nancie Petrucelli, Michael S Simon, Michael A Tainsky
While up to 25% of ovarian cancer (OVCA) cases are thought to be due to inherited factors, the majority of genetic risk remains unexplained. To address this gap, we sought to identify previously undescribed OVCA risk variants through the whole exome sequencing (WES) and candidate gene analysis of 48 women with ovarian cancer and selected for high risk of genetic inheritance, yet negative for any known pathogenic variants in either BRCA1 or BRCA2. In silico SNP analysis was employed to identify suspect variants followed by validation using Sanger DNA sequencing...
2017: PloS One
https://www.readbyqxmd.com/read/28423363/multiple-gene-panel-analysis-in-a-case-series-of-255-women-with-hereditary-breast-and-ovarian-cancer
#4
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...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418444/associations-between-cancer-predisposition-testing-panel-genes-and-breast-cancer
#5
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...
September 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28254144/hereditary-ovarian-cancer-and-risk-reduction
#6
REVIEW
Lesley Andrews, David G Mutch
Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. Despite next-generation sequencing, other identified genes (Lynch Syndrome, RAD51C, RAD51D, and BRIP1) account for only a small proportion of cases. The risk of ovarian cancer by age 70 is approximately 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high-grade serous cancers that predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcomes, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by hormone replacement therapy (HRT)...
May 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27734215/time-to-incorporate-germline-multigene-panel-testing-into-breast-and-ovarian-cancer-patient-care
#7
REVIEW
Rossella Graffeo, Luca Livraghi, Olivia Pagani, Aron Goldhirsch, Ann H Partridge, Judy E Garber
PURPOSE: Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e...
December 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27616075/gene-panel-sequencing-in-familial-breast-ovarian-cancer-patients-identifies-multiple-novel-mutations-also-in-genes-others-than-brca1-2
#8
Cornelia Kraus, Juliane Hoyer, Georgia Vasileiou, Marius Wunderle, Michael P Lux, Peter A Fasching, Mandy Krumbiegel, Steffen Uebe, Miriam Reuter, Matthias W Beckmann, André Reis
Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study, we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor...
January 1, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27273131/sensitivity-of-brca1-2-testing-in-high-risk-breast-ovarian-male-breast-cancer-families-little-contribution-of-comprehensive-rna-ngs-panel-testing
#9
Helen Byers, Yvonne Wallis, Elke M van Veen, Fiona Lalloo, Kim Reay, Philip Smith, Andrew J Wallace, Naomi Bowers, William G Newman, D Gareth Evans
The sensitivity of testing BRCA1 and BRCA2 remains unresolved as the frequency of deep intronic splicing variants has not been defined in high-risk familial breast/ovarian cancer families. This variant category is reported at significant frequency in other tumour predisposition genes, including NF1 and MSH2. We carried out comprehensive whole gene RNA analysis on 45 high-risk breast/ovary and male breast cancer families with no identified pathogenic variant on exonic sequencing and copy number analysis of BRCA1/2...
November 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27083178/frequency-of-germline-dna-genetic-findings-in-an-unselected-prospective-cohort-of-triple-negative-breast-cancer-patients-participating-in-a-platinum-based-neoadjuvant-chemotherapy-trial
#10
Milagros González-Rivera, Miriam Lobo, Sara López-Tarruella, Yolanda Jerez, María del Monte-Millán, Tatiana Massarrah, Rocío Ramos-Medina, Inmaculada Ocaña, Antoni Picornell, Sonia Santillán Garzón, Lucía Pérez-Carbornero, José A García-Saenz, Henry Gómez, Fernando Moreno, Iván Márquez-Rodas, Hugo Fuentes, Miguel Martin
We describe the status and frequency of germline DNA genetic findings in an unselected prospective cohort of triple negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial. Study population includes 124 consecutive patients with stage II-III TNBC from a trial exploring the antitumor activity of neoadjuvant carboplatin/docetaxel chemotherapy enrolled between 2012 and March 2015, to determine the frequency of germline DNA genetic mutations. 17.1 % of the patients with germline DNA tested had deleterious mutations in any of the analyzed genes (12...
April 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/26976419/frequency-of-germline-mutations-in-25-cancer-susceptibility-genes-in-a-sequential-series-of-patients-with-breast-cancer
#11
Nadine Tung, Nancy U Lin, John Kidd, Brian A Allen, Nanda Singh, Richard J Wenstrup, Anne-Renee Hartman, Eric P Winer, Judy E Garber
PURPOSE: Testing for germline mutations in BRCA1/2 is standard for select patients with breast cancer to guide clinical management. Next-generation sequencing (NGS) allows testing for mutations in additional breast cancer predisposition genes. The frequency of germline mutations detected by using NGS has been reported in patients with breast cancer who were referred for BRCA1/2 testing or with triple-negative breast cancer. We assessed the frequency and predictors of mutations in 25 cancer predisposition genes, including BRCA1/2, in a sequential series of patients with breast cancer at an academic institution to examine the utility of genetic testing in this population...
May 1, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/26727920/statewide-retrospective-review-of-familial-pancreatic-cancer-in-delaware-and-frequency-of-genetic-mutations-in-pancreatic-cancer-kindreds
#12
Zohra Ali-Khan Catts, Muhammad Khurram Baig, Becky Milewski, Christine Keywan, Michael Guarino, Nicholas Petrelli
BACKGROUND: Considering the typical rapid progression and high mortality of pancreatic cancer (PC), early detection may lead to an improved outcome. To date, there is no safe, sensitive, and cost-effective screening strategy to detect PC. Currently, screening is focused on individuals at the highest risk of developing PC based on family history. A high-risk individual is defined as having two or more first-degree relatives with PC, or one first- or second-degree relative with PC with a confirmed mutation in a gene associated with PC...
May 2016: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/26534844/targeted-massively-parallel-sequencing-of-a-panel-of-putative-breast-cancer-susceptibility-genes-in-a-large-cohort-of-multiple-case-breast-and-ovarian-cancer-families
#13
Jun Li, Huong Meeks, Bing-Jian Feng, Sue Healey, Heather Thorne, Igor Makunin, Jonathan Ellis, Ian Campbell, Melissa Southey, Gillian Mitchell, David Clouston, Judy Kirk, David Goldgar, Georgia Chenevix-Trench
INTRODUCTION: Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown. METHODS: We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with familial breast cancer. Putative deleterious mutations were genotyped in relevant family members to assess co-segregation of each variant with disease...
January 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26351136/screening-of-helq-in-breast-and-ovarian-cancer-families
#14
Liisa M Pelttari, Laura Kinnunen, Johanna I Kiiski, Sofia Khan, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna
Several high and moderate risk alleles have been identified for breast and ovarian cancer predisposition and most of them encode proteins that function in DNA repair. A prospective candidate for breast and ovarian cancer susceptibility is the HELQ helicase that has a role in the resolution of DNA interstrand cross-links. HELQ interacts with the RAD51 paralog complex BCDX2. Two components of the complex, RAD51C and RAD51D, increase the risk of ovarian cancer especially, and the other two, RAD51B and XRCC2 have been associated with breast cancer risk...
January 2016: Familial Cancer
https://www.readbyqxmd.com/read/25918678/rad51-xrcc3-and-xrcc2-mutation-screening-in-finnish-breast-cancer-families
#15
Liisa M Pelttari, Johanna I Kiiski, Salla Ranta, Sara Vilske, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna
Majority of the known breast cancer susceptibility genes have a role in DNA repair and the most important high-risk genes BRCA1 and BRCA2 are specifically involved in the homologous recombination repair (HRR) of DNA double-strand breaks. A central player in HRR is RAD51 that binds DNA at the damage site. The RAD51 paralogs RAD51B, RAD51C, RAD51D, XRCC2, and XRCC3 facilitate the binding of RAD51 to DNA. While germline mutations in RAD51C and RAD51D are associated with high ovarian cancer risk and RAD51B polymorphisms with breast cancer, the contribution of RAD51, XRCC3, and XRCC2 is more unclear...
2015: SpringerPlus
https://www.readbyqxmd.com/read/25452441/inherited-mutations-in-17-breast-cancer-susceptibility-genes-among-a-large-triple-negative-breast-cancer-cohort-unselected-for-family-history-of-breast-cancer
#16
MULTICENTER STUDY
Fergus J Couch, Steven N Hart, Priyanka Sharma, Amanda Ewart Toland, Xianshu Wang, Penelope Miron, Janet E Olson, Andrew K Godwin, V Shane Pankratz, Curtis Olswold, Seth Slettedahl, Emily Hallberg, Lucia Guidugli, Jaime I Davila, Matthias W Beckmann, Wolfgang Janni, Brigitte Rack, Arif B Ekici, Dennis J Slamon, Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, George Fountzilas, Liisa M Pelttari, William J Tapper, Lorraine Durcan, Simon S Cross, Robert Pilarski, Charles L Shapiro, Jennifer Klemp, Song Yao, Judy Garber, Angela Cox, Hiltrud Brauch, Christine Ambrosone, Heli Nevanlinna, Drakoulis Yannoukakos, Susan L Slager, Celine M Vachon, Diana M Eccles, Peter A Fasching
PURPOSE: Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a large cohort of patients with triple-negative breast cancer (TNBC) unselected for family history of breast or ovarian cancer to determine the utility of germline genetic testing for those with TNBC. PATIENTS AND METHODS: Patients with TNBC (N = 1,824) unselected for family history of breast or ovarian cancer were recruited through 12 studies, and germline DNA was sequenced to identify mutations...
February 1, 2015: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/24139550/germline-mutation-in-the-rad51b-gene-confers-predisposition-to-breast-cancer
#17
Lisa Golmard, Virginie Caux-Moncoutier, Grégoire Davy, Essam Al Ageeli, Brigitte Poirot, Carole Tirapo, Dorothée Michaux, Catherine Barbaroux, Catherine Dubois d'Enghien, André Nicolas, Laurent Castéra, Xavier Sastre-Garau, Marc-Henri Stern, Claude Houdayer, Dominique Stoppa-Lyonnet
BACKGROUND: Most currently known breast cancer predisposition genes play a role in DNA repair by homologous recombination. Recent studies conducted on RAD51 paralogs, involved in the same DNA repair pathway, have identified rare germline mutations conferring breast and/or ovarian cancer predisposition in the RAD51C, RAD51D and XRCC2 genes. The present study analysed the five RAD51 paralogs (RAD51B, RAD51C, RAD51D, XRCC2, XRCC3) to estimate their contribution to breast and ovarian cancer predisposition...
2013: BMC Cancer
https://www.readbyqxmd.com/read/24130102/about-1-of-the-breast-and-ovarian-spanish-families-testing-negative-for-brca1-and-brca2-are-carriers-of-rad51d-pathogenic-variants
#18
Sara Gutiérrez-Enríquez, Sandra Bonache, Gorka Ruíz de Garibay, Ana Osorio, Marta Santamariña, Teresa Ramón y Cajal, Eva Esteban-Cardeñosa, Anna Tenés, Kira Yanowsky, Alicia Barroso, Gemma Montalban, Ana Blanco, Mònica Cornet, Neus Gadea, Mar Infante, Trinidad Caldés, Eduardo Díaz-Rubio, Judith Balmaña, Adriana Lasa, Ana Vega, Javier Benítez, Miguel de la Hoya, Orland Diez
RAD51D mutations have been recently identified in breast (BC) and ovarian cancer (OC) families. Although an etiological role in OC appears to be present, the association of RAD51D mutations and BC risk is more unclear. We aimed to determine the prevalence of germline RAD51D mutations in Spanish BC/OC families negative for BRCA1/BRCA2 mutations. We analyzed 842 index patients: 491 from BC/OC families, 171 BC families, 51 OC families and 129 patients without family history but with early-onset BC or OC or metachronous BC and OC...
May 1, 2014: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/24088786/systematic-screen-identifies-mirnas-that-target-rad51-and-rad51d-to-enhance-chemosensitivity
#19
Jen-Wei Huang, Yemin Wang, Kiranjit K Dhillon, Philamer Calses, Emily Villegas, Patrick S Mitchell, Muneesh Tewari, Christopher J Kemp, Toshiyasu Taniguchi
UNLABELLED: Homologous recombination mediates error-free repair of DNA double-strand breaks (DSB). RAD51 is an essential protein for catalyzing homologous recombination and its recruitment to DSBs is mediated by many factors including RAD51, its paralogs, and breast/ovarian cancer susceptibility gene products BRCA1/2. Deregulation of these factors leads to impaired DNA repair, genomic instability, and cellular sensitivity to chemotherapeutics such as cisplatin and PARP inhibitors. microRNAs (miRNA) are short, noncoding RNAs that posttranscriptionally regulate gene expression; however, the contribution of miRNAs in the regulation of homologous recombination is not well understood...
December 2013: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/23372765/analysis-of-rad51d-in-ovarian-cancer-patients-and-families-with-a-history-of-ovarian-or-breast-cancer
#20
Ella R Thompson, Simone M Rowley, Sarah Sawyer, kConfab, Diana M Eccles, Alison H Trainer, Gillian Mitchell, Paul A James, Ian G Campbell
Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they have been observed in the context of breast and ovarian cancer families, the association with breast cancer is unclear. The aim of this current study was to validate the reported association of RAD51D with ovarian cancer and assess for an association with breast cancer. We screened for RAD51D mutations in BRCA1/2 mutation-negative index cases from 1,060 familial breast and/or ovarian cancer families (including 741 affected by breast cancer only) and in 245 unselected ovarian cancer cases...
2013: PloS One
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