Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 32 Records) |
| Query Trace: Disease and NBN[original query] |
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| Expanding the genetic basis of copy number variation in familial breast cancer. Hereditary cancer in clinical practice 2014 12 (1): 15. Masson Amy L, Talseth-Palmer Bente A, Evans Tiffany-Jane, Grice Desma M, Hannan Garry N, Scott Rodney |
| Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients. Cancer letters 2015 Apr 359 (2): 259-61. Sokolenko Anna P, Preobrazhenskaya Elena V, Aleksakhina Svetlana N, Iyevleva Aglaya G, Mitiushkina Natalia V, Zaitseva Olga A, Yatsuk Olga S, Tiurin Vladislav I, Strelkova Tatiana N, Togo Alexandr V, Imyanitov Evgeny |
| Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals. DNA repair 2016 Mar 40 27-34. Mumbrekar Kamalesh Dattaram, Goutham Hassan Venkatesh, Vadhiraja Bejadi Manjunath, Bola Sadashiva Satish R |
| Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. JAMA oncology 2017 12 3 (12): 1647-1653. Walsh Tom, Mandell Jessica B, Norquist Barbara M, Casadei Silvia, Gulsuner Suleyman, Lee Ming K, King Mary-Clai |
| Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PloS one 2017 10 12 (10): e0186043. Harter Philipp, Hauke Jan, Heitz Florian, Reuss Alexander, Kommoss Stefan, Marmé Frederik, Heimbach André, Prieske Katharina, Richters Lisa, Burges Alexander, Neidhardt Guido, de Gregorio Nikolaus, El-Balat Ahmed, Hilpert Felix, Meier Werner, Kimmig Rainer, Kast Karin, Sehouli Jalid, Baumann Klaus, Jackisch Christian, Park-Simon Tjoung-Won, Hanker Lars, Kröber Sandra, Pfisterer Jacobus, Gevensleben Heidrun, Schnelzer Andreas, Dietrich Dimo, Neunhöffer Tanja, Krockenberger Mathias, Brucker Sara Y, Nürnberg Peter, Thiele Holger, Altmüller Janine, Lamla Josefin, Elser Gabriele, du Bois Andreas, Hahnen Eric, Schmutzler Ri |
| Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. BMC cancer 2018 Sep 18 (1): 926. Hoyer Juliane, Vasileiou Georgia, Uebe Steffen, Wunderle Marius, Kraus Cornelia, Fasching Peter A, Thiel Christian T, Hartmann Arndt, Beckmann Matthias W, Lux Michael P, Reis And |
| Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage. Prostate cancer and prostatic diseases 2018 Aug . Marshall Catherine Handy, Fu Wei, Wang Hao, Baras Alexander S, Lotan Tamara L, Antonarakis Emmanuel |
| 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 |
| Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. The lancet. Gastroenterology & hepatology 2018 5 3 (7): 489-498. Fewings Eleanor, Larionov Alexey, Redman James, Goldgraben Mae A, Scarth James, Richardson Susan, Brewer Carole, Davidson Rosemarie, Ellis Ian, Evans D Gareth, Halliday Dorothy, Izatt Louise, Marks Peter, McConnell Vivienne, Verbist Louis, Mayes Rebecca, Clark Graeme R, Hadfield James, Chin Suet-Feung, Teixeira Manuel R, Giger Olivier T, Hardwick Richard, di Pietro Massimiliano, O'Donovan Maria, Pharoah Paul, Caldas Carlos, Fitzgerald Rebecca C, Tischkowitz Ma |
| 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 |
| Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel. European urology 2019 Feb . Leongamornlert Daniel A, Saunders Edward J, Wakerell Sarah, Whitmore Ian, Dadaev Tokhir, Cieza-Borrella Clara, Benafif Sarah, Brook Mark N, Donovan Jenny L, Hamdy Freddie C, Neal David E, Muir Kenneth, Govindasami Koveela, Conti David V, Kote-Jarai Zsofia, Eeles Rosalind |
| Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis. Journal of geriatric oncology 2019 Sep . Slavin Thomas P, Sun Can-Lan, Chavarri-Guerra Yanin, Sedrak Mina S, Katheria Vani, Castillo Danielle, Herzog Josef, Dale William, Hurria Arti, Weitzel Jeffrey |
| Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland. International journal of cancer 2020 Sep . Woko?orczyk Dominika, Klu?niak Wojciech, Huzarski Tomasz, Gronwald Jacek, Szymiczek Agata, Rusak Bogna, Stempa Klaudia, Gliniewicz Katarzyna, Kashyap Aniruddh, Morawska Sylwia, D?bniak Tadeusz, Jakubowska Anna, Szwiec Marek, Domaga?a Pawe?, Lubi?ski Jan, Narod Steven A, Akbari Mohammad R, Cybulski Cezary, |
| Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry. JCO precision oncology 2020 4 32-43. Matejcic Marco, Patel Yesha, Lilyquist Jenna, Hu Chunling, Lee Kun Y, Gnanaolivu Rohan D, Hart Steven N, Polley Eric C, Yadav Siddhartha, Boddicker Nicholas J, Samara Raed, Xia Lucy, Sheng Xin, Lubmawa Alexander, Kiddu Vicky, Masaba Benon, Namuguzi Dan, Mutema George, Job Kuteesa, Henry Dabanja M, Ingles Sue A, Wilkens Lynne, Le Marchand Loic, Watya Stephen, Couch Fergus J, Conti David V, Haiman Christopher |
| Increased Cancer Prevalence in Peripartum Cardiomyopathy. JACC. CardioOncology 2021 8 1 (2): 196-205. Pfeffer Tobias J, Schlothauer Stella, Pietzsch Stefan, Schaufelberger Maria, Auber Bernd, Ricke-Hoch Melanie, List Manuel, Berliner Dominik, Abou Moulig Valeska, König Tobias, Arany Zolt, Sliwa Karen, Bauersachs Johann, Hilfiker-Kleiner Deni |
| 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 |
| 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 |
| Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma. Frontiers in oncology 2021 12 11 737547. Kong Wen, Yang Tongtong, Wen Xiaodong, Mu Zhongyi, Zhao Cheng, Han Sujun, Tian Jing, Zhang Xinhao, Zhou Tao, Zhang Yanrui, Lou Feng, Cao Shanbo, Wang Huina, Zhang J |
| Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clinical and translational gastroenterology 2021 Oct 12 (10): e00414. Uson Pedro L S, Samadder N Jewel, Riegert-Johnson Douglas, Boardman Lisa, Borad Mitesh J, Ahn Daniel, Sonbol Mohamad B, Faigel Douglas O, Fukami Norio, Pannala Rahul, Kunze Katie, Golafshar Michael, Klint Margaret, Esplin Edward D, Nussbaum Robert L, Stewart A Keith, Bekaii-Saab Tani |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
| 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 |
| Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients. Genes, chromosomes & cancer 2023 7 . Paula Paulo, Marta Cardoso, Andreia Brandão, Pedro Pinto, Ariane Falconi, Manuela Pinheiro, Nuno Cerveira, Rui Silva, Catarina Santos, Carla Pinto, Ana Peixoto, Sofia Maia, Manuel R Teixei |
| Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients. Frontiers in oncology 2023 4 13 1086517. Liu Yixiao, Jin Bo, Shen Cheng, Gao Xianshu, Qi Xin, Ma Mingwei, Li Hongzhen, Hao Han, Tang Qi, Yang Kaiwei, Mi Yue, Guan Jie, Feng Xuero, He Zhisong, Li Haixia, Yu W |
| Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea. Human genomics 2023 2 17 (1): 13. Yun Jiwon, Song Hyojin, Kim Sung-Min, Kim Soonok, Kwon Seok Ryun, Lee Young Eun, Jeong Dajeong, Park Jae Hyeon, Kwon Sunghoon, Yun Hongseok, Lee Dong So |
| DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer Patients. Cancers 2023 10 15 (20): . Dorota Butkiewicz, Ma?gorzata Krze?niak, Agnieszka Gdowicz-K?osok, Krzysztof Sk?adowski, Tomasz Rutkows |
| Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital. Diseases (Basel, Switzerland) 2024 9 12 (9): . Sudhir Mehta, Krishna Mohan Medicherla, Sandhya Gulati, Nidhi Sharma, Rabia Parveen, Ashwani Kumar Mishra, Sonal Gupta, Prashanth Suravajha |
| The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population. International journal of molecular sciences 2024 9 25 (17): . Grigoriy A Yanus, Evgeny N Suspitsin, Evgeny N Imyanit |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| 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 |
| Germline DNA Damage Response Gene Mutations in Localized Prostate Cancer. Medicina (Kaunas, Lithuania) 2024 1 60 (1): . Tomas Januskevicius, Ieva Vaicekauskaite, Rasa Sabaliauskaite, Augustinas Matulevicius, Alvydas Vezelis, Albertas Ulys, Sonata Jarmalaite, Feliksas Jankevici |
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