Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 151 Records) |
Query Trace: Ovarian Neoplasms and PALB2[original query] |
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Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel. Experimental and molecular pathology 2022 9 128 104833. Salvati Annamaria, Carnevali Ileana, Alexandrova Elena, Facchi Sofia, Ronchi Susanna, Libera Laura, Sahnane Nora, Memoli Domenico, Lamberti Jessica, Amabile Sonia, Pepe Stefano, Tarallo Roberta, Sessa Fausto, Weisz Alessandro, Tibiletti Maria Grazia, Rizzo Frances |
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 |
[Oncogénétique dans les cancers de l'ovaire]. La Revue du praticien 2022 7 72 (6): 639-641. Desseignés Camille, Benusiglio Patri |
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 |
PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer. Cancers 2023 9 15 (17): . Henriett Butz, Petra Nagy, János Papp, Anikó Bozsik, Vince Kornél Grolmusz, Tímea Pócza, Edit Oláh, Attila Pató |
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 |
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 |
Germline mutations in 32 cancer susceptibility genes by Next-Generation Sequencing among breast cancer patients. Oncology 2023 7 . Yu Yang, Chang Liu, Zhong-Ling Zhuo, Fei Xie, Ke Wang, Shu Wang, Xiao-Tao Zh |
Germline mutations in 12 genes and risk of ovarian cancer in three population-based cohorts. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 7 . Joanne Kotsopoulos, Cassandra A Hathaway, Steven A Narod, Lauren R Teras, Alpa V Patel, Chunling Hu, Siddhartha Yadav, Fergus J Couch, Shelley S Tworog |
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort. Cancers 2023 7 15 (13): . Ahmed Bouras, Souhir Guidara, Mélanie Leone, Adrien Buisson, Tanguy Martin-Denavit, Sophie Dussart, Christine Lasset, Sophie Giraud, Marie-Noëlle Bonnet-Dupeyron, Zine-Eddine Kherraf, Damien Sanlaville, Sandra Fert-Ferrer, Marine Lebrun, Valerie Bonadona, Alain Calender, Nadia Boutry-Kry |
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 |
PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients. Scientific reports 2023 5 13 (1): 7666. Abdul K Siraj, Rong Bu, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Ingrid G Victoria, Ismail A Al-Badawi, Asma Tulbah, Fouad Al-Dayel, Dahish Ajarim, Khawla S Al-Kura |
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 |
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 |
Potential prognostic role of somatic mutations in a set of cancer susceptibility genes in ovarian carcinoma: A follow-up multicentric study from Pakistan. Cancer biomarkers : section A of Disease markers 2023 2 . Masood Atika, Sarfaraz Rahat, Zaki Saima, Shami Amira, Khaliq Saba, Naseem Nad |
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 |
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations. Clinica chimica acta; international journal of clinical chemistry 2023 12 552 117695. Mar Infante, Mónica Arranz-Ledo, Enrique Lastra, Amaya Olaverri, Raquel Ferreira, Marta Orozco, Lara Hernández, Noemí Martínez, Mercedes Dur |
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 |
Hereditary cancer testing in a diverse sample across three breast imaging centers. Breast cancer research and treatment 2023 10 . Laura Westbrook, Darlene Miltenburg, Vivienne Souter, Melissa K Maisenbacher, Katherine L Howard, Youbao Sha, Maygol Yavari, Nicholas Kypraios, Angel Rodriguez, Jeffrey N Weitz |
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 |
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 |
BRCA2, PALB2, RECQL4 Germline Pathogenic Variants, and Somatic TP53 Mutation in Triple Metachronous Malignancies: A Case Report and Literature Review. International medical case reports journal 2024 1 17 23-29. Yang Liu, Hui Yang, Xueshu Fu, Luting Zhong, Ping Xu, Fang Fang, Ying Liu, Qing Li, Ya'nan Yan, Shanchuang Wei, Junqing Wang, Chunhua Zha |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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