HuGE Literature Finder
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| Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination. NPJ breast cancer 2021 Oct 7 (1): 135. Setton Jeremy, Selenica Pier, Mukherjee Semanti, Shah Rachna, Pecorari Isabella, McMillan Biko, Pei Isaac X, Kemel Yelena, Ceyhan-Birsoy Ozge, Sheehan Margaret, Tkachuk Kaitlyn, Brown David N, Zhang Liying, Cadoo Karen, Powell Simon, Weigelt Britta, Robson Mark, Riaz Nadeem, Offit Kenneth, Reis-Filho Jorge S, Mandelker Dia |
| Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer. Cancers 2021 Jan 13 (1): . Lepkes Louisa, Kayali Mohamad, Blümcke Britta, Weber Jonas, Suszynska Malwina, Schmidt Sandra, Borde Julika, Klonowska Katarzyna, Wappenschmidt Barbara, Hauke Jan, Kozlowski Piotr, Schmutzler Rita K, Hahnen Eric, Ernst Corin |
| Ovarian cancer risk assessment in the era of next-generation sequencing. Annals of translational medicine 2020 Dec 8 (24): 1704. Bonadio Renata Colombo, Crespo Jéssica Rojas, Estevez-Diz Maria Del Pil |
| Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer. Cancers 2020 Oct 12 (10): . Pavanello Marina, Chan Isaac Hy, Ariff Amir, Pharoah Paul Dp, Gayther Simon A, Ramus Susan |
| The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort. Journal of the National Cancer Institute 2020 Feb . Hu Chunling, Polley Eric C, Yadav Siddhartha, Lilyquist Jenna, Shimelis Hermela, Na Jie, Hart Steven N, Goldgar David E, Shah Swati, Pesaran Tina, Dolinsky Jill S, LaDuca Holly, Couch Fergus |
| Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. Cancer 2019 Jun . Weitzel Jeffrey N, Neuhausen Susan L, Adamson Aaron, Tao Shu, Ricker Charité, Maoz Asaf, Rosenblatt Margalit, Nehoray Bita, Sand Sharon, Steele Linda, Unzeitig Gary, Feldman Nancy, Blanco Amie M, Hu Donglei, Huntsman Scott, Castillo Danielle, Haiman Christopher, Slavin Thomas, Ziv El |
| Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. International journal of cancer 2019 Mar . Nurmi Anna, Muranen Taru A, Pelttari Liisa M, Kiiski Johanna I, Heikkinen Tuomas, Lehto Sini, Kallioniemi Anne, Schleutker Johanna, Bützow Ralf, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
| Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes. Gynecologic oncology 2019 Feb . Suszynska Malwina, Klonowska Katarzyna, Jasinska Anna J, Kozlowski Pio |
| Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32 (Supplementum2): 72-78. Soukupová Jana, Lhotová Klára, Zemánková Petra, Vocka Michal, Janatová Markéta, Stolarová Lenka, Borecká Marianna, Kleiblová Petra, Machácková Eva, Foretová Lenka, Koudová Monika, Lhota Filip, Tavandzis Spiros, Zikán Michal, Stránecký Viktor, Veselá Kamila, Panczak Aleš, Kotlas Jaroslav, Kleibl Zden |
| Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. JAMA oncology 2018 Aug . Lu Hsiao-Mei, Li Shuwei, Black Mary Helen, Lee Shela, Hoiness Robert, Wu Sitao, Mu Wenbo, Huether Robert, Chen Jefferey, Sridhar Srijani, Tian Yuan, McFarland Rachel, Dolinsky Jill, Tippin Davis Brigette, Mexal Sharon, Dunlop Charles, Elliott Aar |
| Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece. Journal of human genetics 2018 Aug . Konstanta Irene, Fostira Florentia, Apostolou Paraskevi, Stratikos Efstratios, Kalfakakou Despoina, Pampanos Andreas, Kollia Panagoula, Papadimitriou Christos, Konstantopoulou Irene, Yannoukakos Drakoul |
| Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain). European journal of medical genetics 2018 Jun 61 (6): 355-361. Sánchez-Bermúdez Ana Isabel, Sarabia-Meseguer Ma Desamparados, García-Aliaga Ángeles, Marín-Vera Miguel, Macías-Cerrolaza José Antonio, Henaréjos Pilar Sánchez, Guardiola-Castillo Verónica, Peña Francisco Ayala-de la, Alonso-Romero José Luis, Noguera-Velasco José Antonio, Ruiz-Espejo Francis |
| Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer medicine 2018 Mar . Hauke Jan, Horvath Judit, Groß Eva, Gehrig Andrea, Honisch Ellen, Hackmann Karl, Schmidt Gunnar, Arnold Norbert, Faust Ulrike, Sutter Christian, Hentschel Julia, Wang-Gohrke Shan, Smogavec Mateja, Weber Bernhard H F, Weber-Lassalle Nana, Weber-Lassalle Konstantin, Borde Julika, Ernst Corinna, Altmüller Janine, Volk Alexander E, Thiele Holger, Hübbel Verena, Nürnberg Peter, Keupp Katharina, Versmold Beatrix, Pohl Esther, Kubisch Christian, Grill Sabine, Paul Victoria, Herold Natalie, Lichey Nadine, Rhiem Kerstin, Ditsch Nina, Ruckert Christian, Wappenschmidt Barbara, Auber Bernd, Rump Andreas, Niederacher Dieter, Haaf Thomas, Ramser Juliane, Dworniczak Bernd, Engel Christoph, Meindl Alfons, Schmutzler Rita K, Hahnen Er |
| Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience. BJOG : an international journal of obstetrics and gynaecology 2018 Feb . Rust Kelly, Spiliopoulou Pavlina, Tang Chee Yuan, Bell Christine, Stirling Diane, Phang Tze Hui Fifi, Davidson Rosemarie, Mackean Melanie, Nussey Fiona, Glasspool Ros, Reed Nick, Sadozye Azmat, Porteous Mary, McGoldrick Trevor, Ferguson Michelle, Miedzybrodzka Zofia, McNeish Iain A, Gourley Charl |
| High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population. Hereditary cancer in clinical practice 2018 16 12. Maksimenko J, Irmejs A, Trofimovi?s G, B?rzi?a D, Skuja E, Purkalne G, Miklaševi?s E, Gardovskis |
| Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. European journal of human genetics : EJHG 2017 Dec 25 (12): 1345-1353. Golmard Lisa, Castéra Laurent, Krieger Sophie, Moncoutier Virginie, Abidallah Khadija, Tenreiro Henrique, Laugé Anthony, Tarabeux Julien, Millot Gael A, Nicolas André, Laé Marick, Abadie Caroline, Berthet Pascaline, Polycarpe Florence, Frébourg Thierry, Elan Camille, de Pauw Antoine, Gauthier-Villars Marion, Buecher Bruno, Stern Marc-Henri, Stoppa-Lyonnet Dominique, Vaur Dominique, Houdayer Clau |
| Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA oncology 2017 Sep 3 (9): 1190-1196. Couch Fergus J, Shimelis Hermela, Hu Chunling, Hart Steven N, Polley Eric C, Na Jie, Hallberg Emily, Moore Raymond, Thomas Abigail, Lilyquist Jenna, Feng Bingjian, McFarland Rachel, Pesaran Tina, Huether Robert, LaDuca Holly, Chao Elizabeth C, Goldgar David E, Dolinsky Jill |
| CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC cancer 2017 Sep 17 (1): 620. Hallamies Sanna, Pelttari Liisa M, Poikonen-Saksela Paula, Jekunen Antti, Jukkola-Vuorinen Arja, Auvinen Päivi, Blomqvist Carl, Aittomäki Kristiina, Mattson Johanna, Nevanlinna He |
| Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. Cancer research 2017 Jun . Rivera Barbara, Di Iorio Massimo, Frankum Jessica, Nadaf Javad, Fahiminiya Somayyeh, Arcand Suzanna L, Burk David L, Grapton Damien, Tomiak Eva, Hastings Valerie, Hamel Nancy, Wagener Rabea, Aleynikova Olga, Giroux Sylvie, Hamdan Fadi F, Dionne-Laporte Alexandre, Zogopoulos George, Rousseau Francois, Berghuis Albert M, Provencher Diane, Rouleau Guy A, Michaud Jacques L, Mes-Masson Anne-Marie, Majewski Jacek, Bens Susanne, Siebert Reiner, Narod Steven A, Akbari Mohammad R, Lord Christopher J, Tonin Patricia N, Orthwein Alexandre, Foulkes William |
| Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. PloS one 2017 12 (6): e0178450. Stafford Jaime L, Dyson Gregory, Levin Nancy K, Chaudhry Sophia, Rosati Rita, Kalpage Hasini, Wernette Courtney, Petrucelli Nancie, Simon Michael S, Tainsky Michael |
| Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. International journal of cancer 2016 Sep . Kraus Cornelia, Hoyer Juliane, Vasileiou Georgia, Wunderle Marius, Lux Michael P, Fasching Peter A, Krumbiegel Mandy, Uebe Steffen, Reuter Miriam, Beckmann Matthias W, Reis 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. Breast cancer research and treatment 2016 Apr 156 (3): 507-15. González-Rivera Milagros, Lobo Miriam, López-Tarruella Sara, Jerez Yolanda, Del Monte-Millán María, Massarrah Tatiana, Ramos-Medina Rocío, Ocaña Inmaculada, Picornell Antoni, Garzón Sonia Santillán, Pérez-Carbornero Lucía, García-Saenz José A, Gómez Henry, Moreno Fernando, Márquez-Rodas Iván, Fuentes Hugo, Martin Migu |
| Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar . Tung Nadine, Lin Nancy U, Kidd John, Allen Brian A, Singh Nanda, Wenstrup Richard J, Hartman Anne-Renee, Winer Eric P, Garber Judy |
| Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing. European journal of human genetics : EJHG 2016 11 24 (11): 1591-1597. Byers Helen, Wallis Yvonne, van Veen Elke M, Lalloo Fiona, Reay Kim, Smith Philip, Wallace Andrew J, Bowers Naomi, Newman William G, Evans D Gare |
| Screening of HELQ in breast and ovarian cancer families. Familial cancer 2015 Sep . Pelttari Liisa M, Kinnunen Laura, Kiiski Johanna I, Khan Sofia, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
| Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Feb 33 (4): 304-11. Couch Fergus J, Hart Steven N, Sharma Priyanka, Toland Amanda Ewart, Wang Xianshu, Miron Penelope, Olson Janet E, Godwin Andrew K, Pankratz V Shane, Olswold Curtis, Slettedahl Seth, Hallberg Emily, Guidugli Lucia, Davila Jaime I, Beckmann Matthias W, Janni Wolfgang, Rack Brigitte, Ekici Arif B, Slamon Dennis J, Konstantopoulou Irene, Fostira Florentia, Vratimos Athanassios, Fountzilas George, Pelttari Liisa M, Tapper William J, Durcan Lorraine, Cross Simon S, Pilarski Robert, Shapiro Charles L, Klemp Jennifer, Yao Song, Garber Judy, Cox Angela, Brauch Hiltrud, Ambrosone Christine, Nevanlinna Heli, Yannoukakos Drakoulis, Slager Susan L, Vachon Celine M, Eccles Diana M, Fasching Peter |
| Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. PloS one 2015 10 (6): e0127711. Janatova Marketa, Soukupova Jana, Stribrna Jana, Kleiblova Petra, Vocka Michal, Boudova Petra, Kleibl Zdenek, Pohlreich Pe |
| RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families. SpringerPlus 2015 4 92. Pelttari Liisa M, Kiiski Johanna I, Ranta Salla, Vilske Sara, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
| About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. International journal of cancer. Journal international du cancer 2014 May 134 (9): 2088-97. Gutiérrez-Enríquez Sara, Bonache Sandra, de Garibay Gorka Ruíz, Osorio Ana, Santamariña Marta, Ramón y Cajal Teresa, Esteban-Cardeñosa Eva, Tenés Anna, Yanowsky Kira, Barroso Alicia, Montalban Gemma, Blanco Ana, Cornet Mònica, Gadea Neus, Infante Mar, Caldés Trinidad, Díaz-Rubio Eduardo, Balmaña Judith, Lasa Adriana, Vega Ana, Benítez Javier, de la Hoya Miguel, Diez Orla |
| Germline mutation in the RAD51B gene confers predisposition to breast cancer. BMC cancer 2013 13 (1): 484. Golmard Lisa, Caux-Moncoutier Virginie, Davy Grégoire, Al Ageeli Essam, Poirot Brigitte, Tirapo Carole, Michaux Dorothée, Barbaroux Catherine, d'Enghien Catherine Dubois, Nicolas André, Castéra Laurent, Sastre-Garau Xavier, Stern Marc-Henri, Houdayer Claude, Stoppa-Lyonnet Dominiq |
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- Page last updated:Jan 20, 2022
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