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RAD51D breast ovarian cancer

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
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
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
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
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
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
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
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
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
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
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
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
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
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
Florence Le Calvez-Kelm, Javier Oliver, Francesca Damiola, Nathalie Forey, Nivonirina Robinot, Geoffroy Durand, Catherine Voegele, Maxime P Vallée, Graham Byrnes, Breast Cancer Family Registry, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian, Fabienne Lesueur
BACKGROUND: Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained. Because of their critical functions in maintaining genome integrity and already well-established associations with breast cancer susceptibility, it is likely that additional genes involved in the HRR pathway harbor sequence variants associated with increased risk of breast cancer...
2012: PloS One
Anneka Wickramanayake, Anneka Wickramanyake, Greta Bernier, Christopher Pennil, Silvia Casadei, Kathy J Agnew, Sunday M Stray, Jessica Mandell, Rochelle L Garcia, Tom Walsh, Mary-Claire King, Elizabeth M Swisher
OBJECTIVE: RAD51D, a gene in the Fanconi Anemia-BRCA homologous recombination pathway, has recently been shown to harbor germline mutations responsible for ovarian carcinoma in multiply affected families. We aimed to extend these results to ovarian carcinoma in the general population. METHODS: We sequenced RAD51D in germline DNA from 360 individuals with primary ovarian, peritoneal or fallopian tube carcinoma who were not selected for age of cancer onset or family history...
December 2012: Gynecologic Oncology
Scott M Weissman, Shelly M Weiss, Anna C Newlin
Approximately 1 in every 4 to 5 women with a diagnosis of ovarian cancer has a hereditary gene mutation that is responsible for the development of her cancer. Identifying women at increased risk of developing ovarian cancer due to a hereditary cancer syndrome can allow for early detection or prevention of not only ovarian cancer, but also other cancers, depending on the causative gene. This review focuses on 3 of the most common hereditary ovarian cancer syndromes, hereditary breast and ovarian cancer syndrome (the BRCA1 and BRCA2 genes), Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), and Peutz-Jeghers syndrome, including key features, genetics, and management of these syndromes...
July 2012: Cancer Journal
Liisa M Pelttari, Johanna Kiiski, Riikka Nurminen, Anne Kallioniemi, Johanna Schleutker, Alexandra Gylfe, Lauri A Aaltonen, Arto Leminen, Päivi Heikkilä, Carl Blomqvist, Ralf Bützow, Kristiina Aittomäki, Heli Nevanlinna
BACKGROUND: RAD51D and RAD54L are involved in homologous recombination, and rare mutations in RAD51D were recently found in breast-ovarian cancer families. This study investigated RAD51D and RAD54L for mutations in breast and ovarian cancer patients in the Finnish population. METHODS: The study sequenced the RAD51D and RAD54L genes in 95 breast and/or ovarian cancer families and genotyped the identified mutation in an additional 2200 breast and 553 ovarian cancer patients and 2102 population controls...
July 2012: Journal of Medical Genetics
D J Osher, K De Leeneer, G Michils, N Hamel, E Tomiak, B Poppe, K Leunen, E Legius, A Shuen, E Smith, J Arseneau, P Tonin, G Matthijs, K Claes, M D Tischkowitz, W D Foulkes
BACKGROUND: Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. METHODS: The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions...
April 10, 2012: British Journal of Cancer
Kathryn P Pennington, Elizabeth M Swisher
In the past, hereditary ovarian carcinoma was attributed almost entirely to mutations in BRCA1 and BRCA2, with a much smaller contribution from mutations in DNA mismatch repair genes. Recently, three new ovarian cancer susceptibility genes have been identified: RAD51C, RAD51D, and BRIP1. In addition, germline mutations in women with ovarian carcinoma have been recently identified in many of the previously identified breast cancer genes in the Fanconi anemia (FA)-BRCA pathway. While mutations in genes other than BRCA1 and BRCA2 are each individually rare, together they make up a significant proportion of cases...
February 2012: Gynecologic Oncology
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