Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 77 Records) |
Query Trace: Ovarian Neoplasms and BRIP1[original query] |
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Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. Cancer science 2020 Aug . Ryu Jin-Sun, Lee Hye-Young, Cho Eun Hae, Yoon Kyong-Ah, Kim Min-Kyeong, Joo Jungnam, Lee Eun-Sook, Kang Han-Sung, Lee Seeyoun, Lee Dong Ock, Lim Myong Cheol, Kong Sun-You |
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer. Cancers 2020 8 12 (8): . Velázquez Carolina, K De Leeneer, Esteban-Cardeñosa Eva M, Avila Cobos Francisco, Lastra Enrique, Abella Luis E, de la Cruz Virginia, Lobatón Carmen D, Claes Kathleen B, Durán Mercedes, Infante M |
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection. Journal of translational medicine 2020 Jun 18 (1): 232. Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Merced |
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases. Journal of ovarian research 2020 5 13 (1): 50. Suszynska Malwina, Ratajska Magdalena, Kozlowski Pio |
Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention. Cancers 2020 5 12 (5): . Gaba Faiza, Blyuss Oleg, Liu Xinting, Goyal Shivam, Lahoti Nishant, Chandrasekaran Dhivya, Kurzer Margarida, Kalsi Jatinderpal, Sanderson Saskia, Lanceley Anne, Ahmed Munaza, Side Lucy, Gentry-Maharaj Aleksandra, Wallis Yvonne, Wallace Andrew, Waller Jo, Luccarini Craig, Yang Xin, Dennis Joe, Dunning Alison, Lee Andrew, Antoniou Antonis C, Legood Rosa, Menon Usha, Jacobs Ian, Manchanda Ranj |
Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report. Familial cancer 2020 4 19 (4): 291-295. Grandi Giovanni, Caroli Martina, Alboni Carlo, Cortesi Laura, Toss Angela, Barbieri Elena, Botticelli Laura, Facchinetti Fab |
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 |
Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study. Clinical genetics 2021 Sep . Flaum Nicola, van Veen Elke M, Smith Olivia, Amico Stephanie, Newman William G, Crosbie Emma J, Edmondson Richard, Smith Miriam J, Evans D Gare |
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions. International journal of molecular sciences 2021 Jul 22 (14): . Guglielmi Chiara, Scarpitta Rosa, Gambino Gaetana, Conti Eleonora, Bellè Francesca, Tancredi Mariella, Cervelli Tiziana, Falaschi Elisabetta, Cosini Cinzia, Aretini Paolo, Congregati Caterina, Marino Marco, Patruno Margherita, Pilato Brunella, Spina Francesca, Balestrino Luisa, Tenedini Elena, Carnevali Ileana, Cortesi Laura, Tagliafico Enrico, Tibiletti Maria Grazia, Tommasi Stefania, Ghilli Matteo, Vivanet Caterina, Galli Alvaro, Caligo Maria Adelai |
Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 6 39 (24): 2698-2709. Stadler Zsofia K, Maio Anna, Chakravarty Debyani, Kemel Yelena, Sheehan Margaret, Salo-Mullen Erin, Tkachuk Kaitlyn, Fong Christopher J, Nguyen Bastien, Erakky Amanda, Cadoo Karen, Liu Ying, Carlo Maria I, Latham Alicia, Zhang Hongxin, Kundra Ritika, Smith Shaleigh, Galle Jesse, Aghajanian Carol, Abu-Rustum Nadeem, Varghese Anna, O'Reilly Eileen M, Morris Michael, Abida Wassim, Walsh Michael, Drilon Alexander, Jayakumaran Gowtham, Zehir Ahmet, Ladanyi Marc, Ceyhan-Birsoy Ozge, Solit David B, Schultz Nikolaus, Berger Michael F, Mandelker Diana, Diaz Luis A, Offit Kenneth, Robson Mark |
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing. Journal of ovarian research 2021 4 14 (1): 61. Cummings Shelly, Roman Susana San, Saam Jennifer, Bernhisel Ryan, Brown Krystal, Lancaster Johnathan M, Usha Lyd |
Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening. Frontiers in oncology 2021 2 10 568786. Kadri Mohammed Shaad N, Patel Komal M, Bhargava Poonam A, Shah Franky D, Badgujar Nutan V, Tarapara Bhoomi V, Patel Prabhudas S, Shaikh Mohammed Inayatullah, Shah Krati, Patel Apurva, Pandya Shashank, Vora Hemangini, Joshi Chaitanya G, Joshi Madhvi |
Clinical Outcomes of Genotype-Matched Therapy for Recurrent Gynecological Cancers: A Single Institutional Experience. Healthcare (Basel, Switzerland) 2021 10 9 (10): . Sawada Kiyoka, Nakayama Kentaro, Nakamura Kohei, Yoshimura Yuki, Razia Sultana, Ishikawa Masako, Yamashita Hitomi, Ishibashi Tomoka, Sato Seiya, Kyo Sato |
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 |
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9 24 (12): 2578-2586. Flaum Nicola, Crosbie Emma J, Edmondson Richard, Woodward Emma R, Lalloo Fiona, Smith Miriam J, Schlecht Helene, Evans D Gare |
Incidence and prognostic significance of inguinal lymph node metastasis in women with newly diagnosed epithelial ovarian cancer. Gynecologic oncology 2022 3 165 (1): 90-96. Chalif Julia, Yao Meng, Gruner Morgan, Kuznicki Michelle, Vargas Roberto, Rose Peter G, Michener Chad, DeBernardo Robert, Chambers Lau |
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics. Frontiers in oncology 2022 12 709645. Yao Qianlan, Liu Yanhui, Zhang Lihua, Dong Lin, Bao Longlong, Bai Qianming, Cui Qian, Xu Jie, Li Min, Liu Jing, Chuai Shannon, Ying Jianming, Zhang Zhihong, Zhou Xiaoy |
Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women. JCO precision oncology 2022 2 1 1-12. Kurian Allison W, Hughes Elisha, Handorf Elizabeth A, Gutin Alexander, Allen Brian, Hartman Anne-Renee, Hall Michael |
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis. Frontiers in oncology 2022 12 12 1030786. Andrikopoulou Angeliki, Zografos Eleni, Apostolidou Kleoniki, Kyriazoglou Anastasios, Papatheodoridi Alksistis-Maria, Kaparelou Maria, Koutsoukos Konstantinos, Liontos Michalis, Dimopoulos Meletios-Athanasios, Zagouri Flo |
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants. Journal of the National Cancer Institute 2022 10 115 (2): 181-189. Lim Belle W X, Li Na, Mahale Sakshi, McInerny Simone, Zethoven Magnus, Rowley Simone M, Huynh Joanne, Wang Theresa, Lee Jue Er Amanda, Friedman Mia, Devereux Lisa, Scott Rodney J, Sloan Erica K, James Paul A, Campbell Ian |
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers. Cancers 2022 1 14 (2): . Turchiano Antonella, Loconte Daria Carmela, De Nola Rosalba, Arezzo Francesca, Chiarello Giulia, Pantaleo Antonino, Iacoviello Matteo, Bagnulo Rosanna, De Luisi Annunziata, Perrelli Sonia, Martino Stefania, Ranieri Carlotta, Garganese Antonella, Stella Alessandro, Forleo Cinzia, Loizzi Vera, Marinaccio Marco, Cicinelli Ettore, Cormio Gennaro, Resta Nicolet |
Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis. Gynecologic oncology 2023 8 177 72-85. Priyanka Narayan, Muhammad Danyal Ahsan, Emily M Webster, Luiza Perez, Sarah R Levi, Benedict Harvey, Isabel Wolfe, Shanice Beaumont, Jesse T Brewer, Drew Siegel, Charlene Thomas, Paul Christos, Andy Hickner, Eloise Chapman-Davis, Evelyn Cantillo, Kevin Holcomb, Ravi N Sharaf, Melissa K Fr |
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer. JCO precision oncology 2023 8 7 e2200695. Neelam V Desai, Elizabeth D Barrows, Sarah M Nielsen, Kathryn E Hatchell, Michael J Anderson, Eden V Haverfield, Blanca Herrera, Edward D Esplin, Anneke Lucassen, Nadine M Tung, Claudine Isaa |
Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception. Breast cancer research and treatment 2023 3 . Bychkovsky Brittany L, Lo Min-Tzu, Yussuf Amal, Horton Carrie, Hemyari Parichehr, LaDuca Holly, Garber Judy E, Scheib Rochelle, Rana Huma |
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene. Genes 2023 2 14 (2): . Fierheller Caitlin T, Alenezi Wejdan M, Serruya Corinne, Revil Timothée, Amuzu Setor, Bedard Karine, Subramanian Deepak N, Fewings Eleanor, Bruce Jeffrey P, Prokopec Stephenie, Bouchard Luigi, Provencher Diane, Foulkes William D, El Haffaf Zaki, Mes-Masson Anne-Marie, Tischkowitz Marc, Campbell Ian G, Pugh Trevor J, Greenwood Celia M T, Ragoussis Jiannis, Tonin Patricia |
Beyond BRCA: Patterns of risk-reducing surgery for non-BRCA, homologous recombination repair pathway gene variant carriers. Gynecologic oncology 2023 2 170 234-240. Lee Sarah S, Karpel Hannah C, Oh Cheongeun, Smith Julia, Pothuri Bhava |
Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival. Gynecologic oncology 2023 12 180 35-43. Ryan M Kahn, Pier Selenica, Thomas Boerner, Kara Long Roche, Yonghong Xiao, Tiffany Y Sia, Anna Maio, Yelena Kemel, Margaret Sheehan, Erin Salo-Mullen, Kelsey E Breen, Qin Zhou, Alexia Iasonos, Rachel N Grisham, Roisin E O'Cearbhaill, Dennis S Chi, Michael F Berger, Ritika Kundra, Nikolaus Schultz, Lora H Ellenson, Zsofia K Stadler, Kenneth Offit, Diana Mandelker, Carol Aghajanian, Dmitriy Zamarin, Paul Sabbatini, Britta Weigelt, Ying L L |
Homologous Recombination Repair Gene Mutations to Predict Olaparib Plus Bevacizumab Efficacy in the First-Line Ovarian Cancer PAOLA-1/ENGOT-ov25 Trial. JCO precision oncology 2023 1 7 e2200258. Pujade-Lauraine Eric, Brown Jessica, Barnicle Alan, Wessen Jonathan, Lao-Sirieix Pierre, Criscione Steven W, du Bois Andreas, Lorusso Domenica, Romero Ignacio, Petru Edgar, Yoshida Hiroyuki, Vergote Ignace, Colombo Nicoletta, Hietanen Sakari, Provansal Magali, Schmalfeldt Barbara, Pignata Sandro, Martín Lorente Cristina, Berton Dominique, Runnebaum Ingo B, Ray-Coquard Isabel |
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer. medRxiv : the preprint server for health sciences 2024 4 . Ed M Dicks, Jonthan P Tyrer, Suzana Ezquina, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk, Toon Van Gorp, Ana De Fazio, David Bowtell, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharo |
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- Page last updated:Apr 29, 2024
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