Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 43 Records) |
| Query Trace: Disease and BARD1[original query] |
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| OLA1 gene sequencing in patients with BRCA1/2 mutation-negative suspected hereditary breast and ovarian cancer. Breast cancer (Tokyo, Japan) 2016 Jun . Takahashi Masanobu, Chiba Natsuko, Shimodaira Hideki, Yoshino Yuki, Mori Takahiro, Sumii Makiko, Nomizu Tadashi, Ishioka Chikas |
| Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression. Oncotarget 2016 Mar . Lasorsa Vito Alessandro, Formicola Daniela, Pignataro Piero, Cimmino Flora, Calabrese Francesco Maria, Mora Jaume, Esposito Maria Rosaria, Pantile Marcella, Zanon Carlo, De Mariano Marilena, Longo Luca, Hogarty Michael D, de Torres Carmen, Tonini Gian Paolo, Iolascon Achille, Capasso Mar |
| Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Biological research 2017 Oct 50 (1): 35. Jara Lilian, Morales Sebastian, de Mayo Tomas, Gonzalez-Hormazabal Patricio, Carrasco Valentina, Godoy Ra |
| Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial Disease. Scientific reports 2018 7 8 (1): 11336. Philley Julie V, Hertweck Kate L, Kannan Anbarasu, Brown-Elliott Barbara A, Wallace Richard J, Kurdowska Anna, Ndetan Harrison, Singh Karan P, Miller Edmund J, Griffith David E, Dasgupta Santa |
| 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, Vo?ka Michal, Janatová Markéta, Stola?ová Lenka, Borecká Marianna, Kleiblová Petra, Machá?ková Eva, Foretová Lenka, Koudová Monika, Lhota Filip, Tavandzis Spiros, Zikán Michal, Stránecký Viktor, Veselá Kamila, Panczak Aleš, Kotlas Jaroslav, Kleibl Zden |
| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
| Prevalence of germline variants in inflammatory breast cancer. Cancer 2019 Apr . Rana Huma Q, Sacca Rosalba, Drogan Christine, Gutierrez Stephanie, Schlosnagle Emily, Regan Meredith M, Speare Virginia, LaDuca Holly, Dolinsky Jill, Garber Judy E, Overmoyer Beth |
| Differences in Genomic Profiles and Outcomes Between Thoracic and Adrenal Neuroblastoma. Journal of the National Cancer Institute 2019 Feb . Oldridge Derek A, Truong Bao, Russ Douglas, DuBois Steven G, Vaksman Zalman, Mosse Yael P, Diskin Sharon J, Maris John M, Matthay Katherine |
| 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 |
| Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer. Breast cancer research and treatment 2020 7 183 (3): 697-704. Kim Se Hyun, Ahn Soomin, Suh Koung Jin, Kim Yu Jung, Park So Yeon, Kang Eunyoung, Kim Eun-Kyu, Kim In Ah, Chae Sumin, Choi Murim, Kim Jee Hy |
| Mutations in DNA Repair Genes and Clinical Outcomes of Patients With Metastatic Colorectal Cancer Receiving Oxaliplatin or Irinotecan-containing Regimens. American journal of clinical oncology 2020 Dec . Marks Eric I, Matera Robert, Olszewski Adam J, Yakirevich Evgeny, El-Deiry Wafik S, Safran Howard, Carneiro Benedito |
| Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Oct . Yadav Siddhartha, Kasi Pashtoon M, Bamlet William R, Ho Thanh P, Polley Eric C, Hu Chunling, Hart Steven N, Rabe Kari G, Boddicker Nicholas J, Gnanaolivu Rohan D, Lee Kun Y, Lindstrom Tricia H, Petersen Gloria M, Couch Fergus J, McWilliams Robert |
| The prevalence of homologous recombination deficiency (HRD) in various solid tumors and the role of HRD as a single biomarker to immune checkpoint inhibitors. Journal of cancer research and clinical oncology 2021 Sep . Kim Hana, Ahn Soomin, Kim Hongsik, Hong Jung Yong, Lee Jeeyun, Park Se Hoon, Park Joon Oh, Park Young Suk, Lim Ho Yeong, Kang Won Ki, Kim Kyoung-Mee, Kim Seung T |
| Germline breast cancer susceptibility genes, tumor characteristics, and survival. Genome medicine 2021 Dec 13 (1): 185. Ho Peh Joo, Khng Alexis J, Loh Hui Wen, Ho Weang-Kee, Yip Cheng Har, Mohd-Taib Nur Aishah, Tan Veronique Kiak Mien, Tan Benita Kiat-Tee, Tan Su-Ming, Tan Ern Yu, Lim Swee Ho, Jamaris Suniza, Sim Yirong, Wong Fuh Yong, Ngeow Joanne, Lim Elaine Hsuen, Tai Mei Chee, Wijaya Eldarina Azfar, Lee Soo Chin, Chan Ching Wan, Buhari Shaik Ahmad, Chan Patrick M Y, Chen Juliana J C, Seah Jaime Chin Mui, Lee Wai Peng, Mok Chi Wei, Lim Geok Hoon, Woo Evan, Kim Sung-Won, Lee Jong Won, Lee Min Hyuk, Park Sue K, Dunning Alison M, Easton Douglas F, Schmidt Marjanka K, Teo Soo-Hwang, Li Jingmei, Hartman Mika |
| The Role of US in Depicting Axillary Metastasis in High-Risk Breast Cancer Patients. Journal of personalized medicine 2021 12 11 (12): . Pintican Roxana, Duma Magdalena Maria, Szep Madalina, Feier Diana, Eniu Dan, Goidescu Iulian, Chiorean Angeli |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. The New England journal of medicine 2021 Jan . , Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Luccarini Craig, Wahlström Cecilia, Pooley Karen A, Parsons Michael T, Fortuno Cristina, Wang Qin, Bolla Manjeet K, Dennis Joe, Keeman Renske, Alonso M Rosario, Álvarez Nuria, Herraez Belen, Fernandez Victoria, Núñez-Torres Rocio, Osorio Ana, Valcich Jeanette, Li Minerva, Törngren Therese, Harrington Patricia A, Baynes Caroline, Conroy Don M, Decker Brennan, Fachal Laura, Mavaddat Nasim, Ahearn Thomas, Aittomäki Kristiina, Antonenkova Natalia N, Arnold Norbert, Arveux Patrick, Ausems Margreet G E M, Auvinen Päivi, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Bermisheva Marina, Bia?kowska Katarzyna, Blomqvist Carl, Bogdanova Natalia V, Bogdanova-Markov Nadja, Bojesen Stig E, Bonanni Bernardo, Børresen-Dale Anne-Lise, Brauch Hiltrud, Bremer Michael, Briceno Ignacio, Brüning Thomas, Burwinkel Barbara, Cameron David A, Camp Nicola J, Campbell Archie, Carracedo Angel, Castelao Jose E, Cessna Melissa H, Chanock Stephen J, Christiansen Hans, Collée J Margriet, Cordina-Duverger Emilie, Cornelissen Sten, Czene Kamila, Dörk Thilo, Ekici Arif B, Engel Christoph, Eriksson Mikael, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Försti Asta, Gabrielson Marike, Gago-Dominguez Manuela, Georgoulias Vassilios, Gil Fabian, Giles Graham G, Glendon Gord, Garcia Encarna B Gómez, Alnæs Grethe I Grenaker, Guénel Pascal, Hadjisavvas Andreas, Haeberle Lothar, Hahnen Eric, Hall Per, Hamann Ute, Harkness Elaine F, Hartikainen Jaana M, Hartman Mikael, He Wei, Heemskerk-Gerritsen Bernadette A M, Hillemanns Peter, Hogervorst Frans B L, Hollestelle Antoinette, Ho Weang Kee, Hooning Maartje J, Howell Anthony, Humphreys Keith, Idris Faiza, Jakubowska Anna, Jung Audrey, Kapoor Pooja Middha, Kerin Michael J, Khusnutdinova Elza, Kim Sung-Won, Ko Yon-Dschun, Kosma Veli-Matti, Kristensen Vessela N, Kyriacou Kyriacos, Lakeman Inge M M, Lee Jong Won, Lee Min Hyuk, Li Jingmei, Lindblom Annika, Lo Wing-Yee, Loizidou Maria A, Lophatananon Artitaya, Lubi?ski Jan, MacInnis Robert J, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Martinez Maria Elena, Maurer Tabea, Mavroudis Dimitrios, McLean Catriona, Meindl Alfons, Mensenkamp Arjen R, Michailidou Kyriaki, Miller Nicola, Mohd Taib Nur Aishah, Muir Kenneth, Mulligan Anna Marie, Nevanlinna Heli, Newman William G, Nordestgaard Børge G, Ng Pei-Sze, Oosterwijk Jan C, Park Sue K, Park-Simon Tjoung-Won, Perez Jose I A, Peterlongo Paolo, Porteous David J, Prajzendanc Karolina, Prokofyeva Darya, Radice Paolo, Rashid Muhammad U, Rhenius Valerie, Rookus Matti A, Rüdiger Thomas, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Schneeweiss Andreas, Schürmann Peter, Shah Mitul, Sohn Christof, Southey Melissa C, Surowy Harald, Suvanto Maija, Thanasitthichai Somchai, Tomlinson Ian, Torres Diana, Truong Thérèse, Tzardi Maria, Valova Yana, van Asperen Christi J, Van Dam Rob M, van den Ouweland Ans M W, van der Kolk Lizet E, van Veen Elke M, Wendt Camilla, Williams Justin A, Yang Xiaohong R, Yoon Sook-Yee, Zamora M Pilar, Evans D Gareth, de la Hoya Miguel, Simard Jacques, Antoniou Antonis C, Borg Åke, Andrulis Irene L, Chang-Claude Jenny, García-Closas Montserrat, Chenevix-Trench Georgia, Milne Roger L, Pharoah Paul D P, Schmidt Marjanka K, Spurdle Amanda B, Vreeswijk Maaike P G, Benitez Javier, Dunning Alison M, Kvist Anders, Teo Soo H, Devilee Peter, Easton Douglas |
| Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma. BMC cancer 2022 6 22 (1): 717. Kuick Chik Hong, Tan Jia Ying, Jasmine Deborah, Sumanty Tohari, Ng Alvin Y J, Venkatesh Byrrappa, Chen Huiyi, Loh Eva, Jain Sudhanshi, Seow Wan Yi, Ng Eileen H Q, Lian Derrick W Q, Soh Shui Yen, Chang Kenneth T E, Chen Zhi Xiong, Loh Amos H |
Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Feb . Testori Alessandro, Vaksman Zalman, Diskin Sharon J, Hakonarson Hakon, Capasso Mario, Iolascon Achille, Maris John M, Devoto Marcel |
| Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. JAMA oncology 2022 Jan . , Mavaddat Nasim, Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Keeman Renske, Bolla Manjeet K, Dennis Joe, Wang Qin, Ahearn Thomas U, Andrulis Irene L, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Briceno Ignacio, Brüning Thomas, Camp Nicola J, Campbell Archie, Castelao Jose E, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, Christiansen Hans, Czene Kamila, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gabrielson Marike, Gago-Dominguez Manuela, Geisler Jürgen, Giles Graham G, Guénel Pascal, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Hartikainen Jaana M, Hartman Mikael, Hoppe Reiner, Howell Anthony, Jakubowska Anna, Jung Audrey, Khusnutdinova Elza K, Kristensen Vessela N, Li Jingmei, Lim Swee Ho, Lindblom Annika, Loizidou Maria A, Lophatananon Artitaya, Lubinski Jan, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mohd Taib Nur Aishah, Morra Anna, Muir Kenneth, Obi Nadia, Osorio Ana, Park-Simon Tjoung-Won, Peterlongo Paolo, Radice Paolo, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sim Xueling, Southey Melissa C, Thorne Heather, Tomlinson Ian, Torres Diana, Truong Thérèse, Yip Cheng Har, Spurdle Amanda B, Vreeswijk Maaike P G, Dunning Alison M, García-Closas Montserrat, Pharoah Paul D P, Kvist Anders, Muranen Taru A, Nevanlinna Heli, Teo Soo Hwang, Devilee Peter, Schmidt Marjanka K, Easton Douglas |
| Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria. Human mutation 2022 Feb . James Paul A, Fortuno Cristina, Li Na, Lim Belle W X, Campbell Ian G, Spurdle Amanda |
| BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma. Journal of the National Cancer Institute 2023 9 . Michael P Randall, Laura E Egolf, Zalman Vaksman, Minu Samanta, Matthew Tsang, David Groff, J Perry Evans, Jo Lynne Rokita, Mehdi Layeghifard, Adam Shlien, John M Maris, Sharon J Diskin, Kristopher R Bos |
| Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer. JAMA oncology 2023 9 . Burcu F Darst, Ed Saunders, Tokhir Dadaev, Xin Sheng, Peggy Wan, Loreall Pooler, Lucy Y Xia, Stephen Chanock, Sonja I Berndt, Ying Wang, Alpa V Patel, Demetrius Albanes, Stephanie J Weinstein, Vincent Gnanapragasam, Chad Huff, Fergus J Couch, Alicja Wolk, Graham G Giles, Tu Nguyen-Dumont, Roger L Milne, Mark M Pomerantz, Julie A Schmidt, Ruth C Travis, Timothy J Key, Konrad H Stopsack, Lorelei A Mucci, William J Catalona, Beth Marosy, Kurt N Hetrick, Kimberly F Doheny, Robert J MacInnis, Melissa C Southey, Rosalind A Eeles, Fredrik Wiklund, David V Conti, Zsofia Kote-Jarai, Christopher A Haim |
| Clinical significance of DNA damage response mutations in stage I and stage IIIa NSCLC. Thoracic cancer 2023 9 . Haoran Zhang, Dongming Zhang, Jia Liu, Yuequan Shi, Xiaoyan Liu, Minjiang Chen, Wei Zhong, Jing Zhao, Yan Xu, Mengzhao Wa |
| BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma. bioRxiv : the preprint server for biology 2023 2 . Randall Michael P, Egolf Laura E, Vaksman Zalman, Samanta Minu, Tsang Matthew, Groff David, Evans J Perry, Rokita Jo Lynne, Layeghifard Mehdi, Shlien Adam, Maris John M, Diskin Sharon J, Bosse Kristopher |
| Genetic variants in African-American and Hispanic patients with breast cancer. Oncology letters 2023 1 25 (2): 51. Dutta Pranabananda, Keung Man Y, Wu Yanyuan, Vadgama Jaydutt |
| Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer. JAMA network open 2024 9 7 (9): e2431427. Zoulikha Rezoug, Stephanie P Totten, David Szlachtycz, Adrienne Atayan, Kristen Mohler, Sophie Albert, Leila Feng, Brianna Lemieux Anglin, Zhen Shen, Daniel Jimenez, Nancy Hamel, Nicholas Meti, Khashayar Esfahani, Jean-François Boileau, Ipshita Prakash, Mark Basik, Sarkis Meterissian, Francine Tremblay, David Fleiszer, Dawn Anderson, George Chong, Stephanie M Wong, William D Foulk |
| Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing. Annals of oncology : official journal of the European Society for Medical Oncology 2024 7 . C F Rowlands, S Allen, J Balmaña, S M Domchek, D G Evans, H Hanson, N Hoogerbrugge, P A James, K Nathanson, M Robson, M Tischkowitz, W D Foulkes, C Turnbu |
| Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men. Research square 2024 7 . Vanessa Hayes, Tingting Gong, Jue Jiang, Riana Bornman, Kazzem Gheybi, Phillip Stricker, Joachim Weischenfeldt, Shingai Mutambir |
| Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. International journal of molecular sciences 2024 12 25 (23): . Petra Nagy, János Papp, Vince Kornél Grolmusz, Anikó Bozsik, Tímea Pócza, Edit Oláh, Attila Patócs, Henriett Bu |
| Histologic patterns in prostatic adenocarcinoma are not predictive of mutations in the homologous recombination repair pathway. Human pathology 2024 1 . Jon Mahlow, Marc Barry, Daniel J Albertson, Yeon Jung Jo, Michael Balatico, Tori Seasor, Georges Gebrael, Shruti A Kumar, Nicolas Sayegh, Nishita Tripathi, Neeraj Agarwal, Umang Swami, Deepika Siro |
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