Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 128 Records) |
| Query Trace: Ovarian Neoplasms and ATM[original query] |
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| A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies. Environmental and molecular mutagenesis 2022 Jul 63 (6): 308-316. Shao Changxia, Wan Jun, Lam Fred C, Tang Huilin, Marley Andrew R, Song Yiqing, Miller Chelsey, Brown Madeline, Han Jiali, Adeboyeje Gboye |
| Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. Annals of oncology : official journal of the European Society for Medical Oncology 2022 Sep . Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard J W, Barwell J, Berg J, Brady A F, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison P J, Paterson J, Porteous M, Rogers M T, Walker L, , Eccles D, Evans D G, Snape K, Hanson H, Houlston R S, Turnbull |
| Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer. Cancer medicine 2022 8 . Sokolenko Anna P, Sultanova Luisa V, Stepanov Ilya A, Romanko Alexandr A, Venina Aigul R, Sokolova Tatiana N, Musayeva Hedi S, Tovgereeva Marina Ya, Magomedova Mareta Kh, Akhmatkhanov Khusein U, Vagapova Elisa I, Suleymanov Elkhan A, Vasilyeva Elena V, Bakaeva Elvina Kh, Bizin Ilya V, Aleksakhina Svetlana N, Imyanitov Evgeny |
| 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 |
| Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases. Scientific reports 2022 11 12 (1): 20537. Duchnowska Renata, Supernat Anna Maria, P?ksa Rafa?, ?ukasiewicz Marta, Stokowy Tomasz, Ronen Roy, Dutkowski Janusz, Umi?ska Monika, I?ycka-?wieszewska Ewa, Kowalczyk Anna, Och Waldemar, Ruci?ska Monika, Olszewski Wojciech P, Mandat Tomasz, Jarosz Bo?ena, Bie?kowski Micha?, Biernat Wojciech, Jassem Jac |
| Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma. Cells 2022 11 11 (22): . Dong Lin, Wang Tingting, Li Ning, Yao Hongwen, Ying Jianming, Wu Lingying, Yuan Guangw |
| 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 |
| 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 |
| Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients. Breast cancer research and treatment 2023 8 . Aysun Dauti Isiklar, Lamiya Aliyeva, Ahmet Yesilyurt, Aykut Soyder, Gul Basar |
| Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling. Mutation research 2023 7 827 111831. Zeynep Özdemir, Ezgi Çevik, Ömür Berna Çakmak Öksüzo?lu, Mutlu Do?an, Öztürk Ate?, Ece Esin, ?rem Bilgetekin, Umut Demirci, Ça?lar Köseo?lu, Alper Topal, Nuri Karadurmu?, Haktan Ba??? Erdem, Taha Bah |
| Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients. Translational lung cancer research 2023 7 12 (6): 1236-1244. Ju-Yoon Yoon, Jacquelyn J Roth, Chase A Rushton, Jennifer J D Morrissette, Katherine L Nathanson, Roger B Cohen, Jason N Rosenba |
| 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 |
| Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
| The association between age at breast cancer diagnosis and prevalence of pathogenic variants. Breast cancer research and treatment 2023 4 . Mary B Daly, Eric Rosenthal, Shelly Cummings, Ryan Bernhisel, John Kidd, Elisha Hughes, Alexander Gutin, Stephanie Meek, Thomas P Slavin, Allison W Kuri |
| 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 cancer gene expression quantitative trait loci are associated with local and global tumor mutations. Cancer research 2023 2 . Liu Yuxi, Gusev Alexander, Kraft Pet |
| 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 |
| 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 |
| Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia. Advances in laboratory medicine 2023 12 4 (3): 279-287. Laura Rosado-Jiménez, Younes Mestre-Terkemani, Ángeles García-Aliaga, Miguel Marín-Vera, José Antonio Macías-Cerrolaza, María Desamparados Sarabia-Meseguer, María Rosario García-Hernández, Marta Zafra-Poves, Pilar Sánchez-Henarejos, Francisco Ayala de la Peña, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espe |
| Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus. Breast cancer research and treatment 2023 10 . Anna P Sokolenko, Elvina Kh Bakaeva, Aigul R Venina, Ekaterina Sh Kuligina, Alexandr A Romanko, Svetlana N Aleksakhina, Yana V Belysheva, Evgeniya V Belogubova, Ilya A Stepanov, Olga A Zaitseva, Olga S Yatsuk, Alexandr V Togo, Zaur M Khamgokov, Azinat O Kadyrova, Albert Sh Pirmagomedov, Marina B Bolieva, Alexandr A Epkhiev, Aslan K Tsutsaev, Madina D Chakhieva, Khalimat M Khabrieva, Idris M Khabriev, Mirza A Murachuev, Bella N Buttaeva, Liliya S Baboshkina, Fatima I Bayramkulova, Islam R Katchiev, Lina Kh Alieva, Grigory A Raskin, Sergey V Orlov, Zarema K Khachmamuk, Karine R Levonyan, Dariya M Gichko, Dmitriy V Kirtbaya, Alexey M Degtyariov, Luisa V Sultanova, Hedi S Musayeva, Alexey M Belyaev, Evgeny N Imyanit |
| 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 |
| Somatic mutation of targeted sequencing identifies risk stratification in advanced ovarian clear cell carcinoma. Gynecologic oncology 2024 9 191 56-66. Shimeng Wan, Yang Gao, Sisi Wu, Hua Wang, Jiyu Tong, Wei Wei, Hang Ren, Danni Yang, Hao He, Hong Ye, Hongbing C |
| Screening Familial Risk for Hereditary Breast and Ovarian Cancer. JAMA network open 2024 9 7 (9): e2435901. Daniel Kiser, Gai Elhanan, Alexandre Bolze, Iva Neveux, Karen A Schlauch, William J Metcalf, Elizabeth T Cirulli, Catherine McCarthy, Leslie A Greenberg, Savanna Grime, Jamie M Schnell Blitstein, William Plauth, Joseph J Grzyms |
| Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort. Cancers 2024 9 16 (17): . Ava Kwong, Cecilia Y S Ho, Henry C M Leung, Amy W S Leung, Chun-Hang Au, Edmond S K |
| Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. Cancers 2024 7 16 (14): . Ava Kwong, Cecilia Y S Ho, Chun-Hang Au, Edmond S K |
| Randomized Phase II Study of Gemcitabine With or Without ATR Inhibitor Berzosertib in Platinum-Resistant Ovarian Cancer: Final Overall Survival and Biomarker Analyses. JCO precision oncology 2024 4 8 e2300635. Panagiotis A Konstantinopoulos, Su-Chun Cheng, Elizabeth K Lee, Alexandre André B A da Costa, Doga Gulhan, Andrea E Wahner Hendrickson, Bose Kochupurakkal, David L Kolin, Elise C Kohn, Joyce F Liu, Richard T Penson, Elizabeth H Stover, Jennifer Curtis, Hannah Sawyer, Madeline Polak, Dipanjan Chowdhury, Alan D D'Andrea, Anniina Färkkilä, Geoffrey I Shapiro, Ursula A Matulon |
| Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers. Revista da Associacao Medica Brasileira (1992) 2024 10 70 (10): e20240534. Ferah Kazanci, Zerrin Y?lmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride ?ffet ?ahin, Mehmet Anil On |
| Prevalence and outcomes of germline pathogenic variants of homologous recombination repair genes in ovarian cancer. Cancer science 2024 10 . Maiko Miwa, Masakazu Kitagawa, Yuka Asami, Mayumi Kobayashi-Kato, Takafumi Watanabe, Aiko Ogasawara, Kengo Hiranuma, Hisamori Kato, Motonobu Saito, Yohei Miyagi, Tomoyasu Kato, Hiroshi Yoshida, Yukihide Momozawa, Takashi Kohno, Kouya Shiraishi, Kosei Hasega |
| Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing. Pathology, research and practice 2024 1 254 155075. Seref Bugra Tuncer, Betul Celik, Seda Kilic Erciyas, Ozge Sukruoglu Erdogan, Busra Kurt Gültaslar, Demet Akdeniz Odemis, Mukaddes Avsar, Fatma Sen, P?nar Mualla Saip, Hulya Yazi |
- Page last reviewed:Feb 1, 2024
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