Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 158 Records) |
| Query Trace: Neoplasms and BARD1[original query] |
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| Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin. Asian Pacific journal of cancer prevention : APJCP 2022 6 23 (6): 2027-2033. Gervas Polina, Molokov Aleksey, Babyshkina Nataliya, Kiselev Artem, Zarubin Aleksei, Yumov Evgeny, Pisareva Lubov, Choynzonov Evgeny, Cherdyntseva Nadez |
| Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients. Medeniyet medical journal 2022 6 37 (2): 150-158. Arslan Ates Esra, Turkyilmaz Ayberk, Alavanda Ceren, Yildirim Ozlem, Guney Ahmet Ilt |
| Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Jun . Ahearn Thomas U, Choudhury Parichoy Pal, Derkach Andriy, Wiafe-Addai Beatrice, Awuah Baffour, Yarney Joel, Edusei Lawrence, Titiloye Nicholas, Adjei Ernest, Vanderpuye Verna, Aitpillah Francis, Dedey Florence, Oppong Joseph, Osei-Bonsu Ernest Baawuah, Duggan Máire A, Brinton Louise A, Allen Jamie, Luccarini Craig, Baynes Caroline, Carvalho Sara, Dunning Alison M, Davis Lynn Brittny C, Chanock Stephen J, Hicks Belynda D, Yeager Meredith, Chatterjee Nilanjan, Biritwum Richard, Clegg-Lamptey Joe Nat, Nyarko Kofi, Wiafe Seth, Ansong Daniel, Easton Douglas F, Figueroa Jonine D, Garcia-Closas Montserr |
| Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants. Scientific reports 2022 May 12 (1): 8547. Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano J M, Urioste M, González-Neira A, Osorio |
| Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification. BMC medicine 2022 4 20 (1): 150. Ho Peh Joo, Ho Weang Kee, Khng Alexis J, Yeoh Yen Shing, Tan Benita Kiat-Tee, Tan Ern Yu, Lim Geok Hoon, Tan Su-Ming, Tan Veronique Kiak Mien, Yip Cheng-Har, Mohd-Taib Nur-Aishah, Wong Fuh Yong, Lim Elaine Hsuen, Ngeow Joanne, Chay Wen Yee, Leong Lester Chee Hao, Yong Wei Sean, Seah Chin Mui, Tang Siau Wei, Ng Celene Wei Qi, Yan Zhiyan, Lee Jung Ah, Rahmat Kartini, Islam Tania, Hassan Tiara, Tai Mei-Chee, Khor Chiea Chuen, Yuan Jian-Min, Koh Woon-Puay, Sim Xueling, Dunning Alison M, Bolla Manjeet K, Antoniou Antonis C, Teo Soo-Hwang, Li Jingmei, Hartman Mika |
| The performance of multi-gene panels for breast/ovarian cancer predisposition. Clinica chimica acta; international journal of clinical chemistry 2022 12 539 151-161. Nunziato Marcella, Scaglione Giovanni Luca, Di Maggio Federica, Nardelli Carmela, Capoluongo Ettore, Salvatore Frances |
| 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 |
| Concurrent BRAFV600E and BRCA Mutations in MSS Metastatic Colorectal Cancer: Prevalence and Case Series of mCRC patients with prolonged OS. Cancer treatment and research communications 2022 Apr 32 100569. Cannon Timothy Lewis, Randall Jamie N, Sokol Ethan S, Alexander Sonja M, Wadlow Raymond C, Winer Arthur A, Barnett Daniel M, Rayes Danny L, Nimeiri Halla S, McGregor Kimberly |
| Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival. Journal of the National Cancer Institute 2023 9 . Jung Kim, Zalman Vaksman, Laura E Egolf, Rebecca Kaufman, J Perry Evans, Karina L Conkrite, Arnavaz Danesh, Gonzalo Lopez, Michael P Randall, Maiah H Dent, Lance M Farra, Neil L Menghani, Malwina Dymek, Heena Desai, Ryan Hausler, Belynda Hicks, Jaime Guidry Auvil, Daniela S Gerhard, Hakon Hakonarson, Kara N Maxwell, Kristina A Cole, Trevor J Pugh, Kristopher R Bosse, Javed Khan, Jun S Wei, John M Maris, Douglas R Stewart, Sharon J Disk |
| Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees. Journal of medical genetics 2023 9 . Mathias Schwartz, Sabrina Ibadioune, Albain Chansavang, Sophie Vacher, Sandrine M Caputo, Hélène Delhomelle, Jennifer Wong, Khadija Abidallah, Virginie Moncoutier, Véronique Becette, Tatiana Popova, Voreak Suybeng, Antoine De Pauw, Marc-Henri Stern, Chrystelle Colas, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Lisa Golmard, Ivan Bieche, Julien Masliah-Planch |
| 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 |
| 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 |
| Next generation sequencing reveals a high prevalence of pathogenic mutations in homologous recombination DNA damage repair genes among patients with uterine sarcoma. Gynecologic oncology 2023 8 177 14-19. Dimitrios Nasioudis, Nawar A Latif, Emily M Ko, Lori Cory, Sarah H Kim, Lainie Martin, Fiona Simpkins, Robert Giunto |
| Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Nature genetics 2023 8 . Naomi Wilcox, Martine Dumont, Anna González-Neira, Sara Carvalho, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, Penny Soucy, Stéphane Dubois, Rocio Nuñez-Torres, Guillermo Pita, Eugene J Gardner, Joe Dennis, M Rosario Alonso, Nuria Álvarez, Caroline Baynes, Annie Claude Collin-Deschesnes, Sylvie Desjardins, Heiko Becher, Sabine Behrens, Manjeet K Bolla, Jose E Castelao, Jenny Chang-Claude, Sten Cornelissen, Thilo Dörk, Christoph Engel, Manuela Gago-Dominguez, Pascal Guénel, Andreas Hadjisavvas, Eric Hahnen, Mikael Hartman, Belén Herráez, , Audrey Jung, Renske Keeman, Marion Kiechle, Jingmei Li, Maria A Loizidou, Michael Lush, Kyriaki Michailidou, Mihalis I Panayiotidis, Xueling Sim, Soo Hwang Teo, Jonathan P Tyrer, Lizet E van der Kolk, Cecilia Wahlström, Qin Wang, John R B Perry, Javier Benitez, Marjanka K Schmidt, Rita K Schmutzler, Paul D P Pharoah, Arnaud Droit, Alison M Dunning, Anders Kvist, Peter Devilee, Douglas F Easton, Jacques Sima |
| Screening Practices for Breast and Nonbreast Cancers in High-Risk Mutation Carriers. The Journal of surgical research 2023 7 291 388-395. Alison C Coogan, Lilia G Lunt, Sarah S Keshwani, Olivia Sandhu, Yanyu Zhang, Cristina O'Donoghue, Andrea Madrigra |
| Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes. Scientific reports 2023 5 13 (1): 8536. Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner, Qin Hao, Martin Larsen, Anne-Vibeke Lænkholm, Åke Borg, Anders Kvist, Therese Törngren, Uffe Birk Jensen, Susanne Eriksen Boonen, Mads Thomassen, Thorkild Terkels |
| What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database. Cancer medicine 2023 4 . Mengqian Ni, Fang Wang, Anli Yang, Qiong Shao, Cong Xue, Wen Xia, Fei Xu, Xi Lin, Jiajia Huang, Xiwen Bi, Ruoxi Hong, Meiting Chen, Qiufan Zheng, Kuikui Jiang, Xinhua Xie, Jun Tang, Xi Wang, Zhongyu Yuan, Shusen Wang, Yanxia Shi, Xin |
| 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 |
| Germline pathogenic variants in 786 neuroblastoma patients. medRxiv : the preprint server for health sciences 2023 2 . Kim Jung, Vaksman Zalman, Egolf Laura E, Kaufman Rebecca, Evans J Perry, Conkrite Karina L, Danesh Arnavaz, Lopez Gonzalo, Randall Michael P, Dent Maiah H, Farra Lance M, Menghani Neil, Dymek Malwina, Desai Heena, Hausler Ryan, , , , Auvil Jaime Guidry, Gerhard Daniela S, Hakonarson Hakon, Maxwell Kara N, Cole Kristina A, Pugh Trevor J, Bosse Kristopher R, Khan Javed, Wei Jun S, Maris John M, Stewart Douglas R, Diskin Sharon |
| Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand. Asian Pacific journal of cancer prevention : APJCP 2023 2 24 (2): 525-530. Sukpan Panupong, Kanokwiroon Kanyanatt, Sriplung Hutcha, Laochareonsuk Wison, Choochuen Pongsakorn, Auseng Nasuha, Wanawanakorn Kasemsun, Sangkhathat Suras |
| The impact of coding germline variants on contralateral breast cancer risk and survival. American journal of human genetics 2023 2 110 (3): 475-486. Morra Anna, Mavaddat Nasim, Muranen Taru A, Ahearn Thomas U, Allen Jamie, Andrulis Irene L, Auvinen Päivi, Becher Heiko, Behrens Sabine, Blomqvist Carl, Bojesen Stig E, Bolla Manjeet K, Brauch Hiltrud, Camp Nicola J, Carvalho Sara, Castelao Jose E, Cessna Melissa H, Chang-Claude Jenny, Chenevix-Trench Georgia, , Czene Kamila, Decker Brennan, Dennis Joe, Dörk Thilo, Dorling Leila, Dunning Alison M, Ekici Arif B, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gago-Dominguez Manuela, García-Closas Montserrat, Geurts-Giele Willemina R R, Giles Graham G, Guénel Pascal, Gündert Melanie, Hahnen Eric, Hall Per, Hamann Ute, Harrington Patricia A, He Wei, Heikkilä Päivi, Hooning Maartje J, Hoppe Reiner, Howell Anthony, Humphreys Keith, , Jakubowska Anna, Jung Audrey Y, Keeman Renske, Kristensen Vessela N, Lubi?ski Jan, Mannermaa Arto, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mulligan Anna Marie, Newman William G, Park-Simon Tjoung-Won, Peterlongo Paolo, Pharoah Paul D P, Rhenius Valerie, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Spurdle Amanda B, Tomlinson Ian, Truong Thérèse, van Veen Elke M, Vreeswijk Maaike P G, Wang Qin, Wendt Camilla, Yang Xiaohong R, Nevanlinna Heli, Devilee Peter, Easton Douglas F, Schmidt Marjanka |
| 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 |
| HER2 and BARD1 Polymorphisms in Early HER2-Positive Breast Cancer Patients: Relationship with Response to Neoadjuvant Anti-HER2 Treatment. Cancers 2023 2 15 (3): . Novillo Apolonia, Gaibar María, Romero-Lorca Alicia, Malón Diego, Antón Beatriz, Moreno Amalia, Fernández-Santander A |
| 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 |
| Genomic Alterations of Signaling and DNA Damage Repair Pathways in Non-Muscle Invasive Bladder Cancer. Cancer investigation 2023 11 1-10. Serdar Celik, Tekincan Aktas, Ozde Gokbayrak, Aylin Erol, Kutsal Yorukoglu, Batuhan Yilmaz, Hilmi Sari, Zekiye Altun, Mehmet Ugur Mungan, Ilhan Celebi, Guven Aslan, Safiye Akt |
| Spectrum of histopathologic findings in risk-reducing bilateral prophylactic mastectomy in patients with and without BRCA mutations. Human pathology 2023 11 . Baris Boyraz, Amy |
| The Largest Chinese Cohort Study Indicates Homologous Recombination Pathway Gene Mutations as Another Major Genetic Risk Factor for Colorectal Cancer with Heterogeneous Clinical Phenotypes. Research (Washington, D.C.) 2023 10 6 0249. Yun Xu, Kai Liu, Cong Li, Minghan Li, Fangqi Liu, Xiaoyan Zhou, Menghong Sun, Megha Ranganathan, Liying Zhang, Sheng Wang, Xin Hu, Ye |
| Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 2023 1 17 (1): 2. Kim Jinyong, Jeong Kyeonghun, Jun Hyeji, Kim Kwangsoo, Bae Jeong Mo, Song Myung Geun, Yi Hanbaek, Park Songyi, Woo Go-Un, Lee Dae-Won, Kim Tae-Yong, Lee Kyung-Hun, Im Seock- |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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