Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 56 Records) |
| Query Trace: Syndrome and PALB2[original query] |
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| Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2. Cancers 2020 Aug 12 (9): . Fanale Daniele, Incorvaia Lorena, Filorizzo Clarissa, Bono Marco, Fiorino Alessia, Calò Valentina, Brando Chiara, Corsini Lidia Rita, Barraco Nadia, Badalamenti Giuseppe, Russo Antonio, Bazan Vivia |
| Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. NPJ breast cancer 2020 6 6 25. Kaneyasu Tomoko, Mori Seiichi, Yamauchi Hideko, Ohsumi Shozo, Ohno Shinji, Aoki Daisuke, Baba Shinichi, Kawano Junko, Miki Yoshio, Matsumoto Naomichi, Nagasaki Masao, Yoshida Reiko, Akashi-Tanaka Sadako, Iwase Takuji, Kitagawa Dai, Masuda Kenta, Hirasawa Akira, Arai Masami, Takei Junko, Ide Yoshimi, Gotoh Osamu, Yaguchi Noriko, Nishi Mitsuyo, Kaneko Keika, Matsuyama Yumi, Okawa Megumi, Suzuki Misato, Nezu Aya, Yokoyama Shiro, Amino Sayuri, Inuzuka Mayuko, Noda Tetsuo, Nakamura Sei |
| Pathologic findings and clinical outcomes in women undergoing risk-reducing surgery to prevent ovarian and fallopian tube carcinoma: A large prospective single institution experience. Gynecologic oncology 2020 3 157 (2): 514-520. Rush Shannon K, Swisher Elizabeth M, Garcia Rochelle L, Pennington Kathryn P, Agnew Kathy J, Kilgore Mark R, Norquist Barbara |
| Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer. Journal of personalized medicine 2021 8 11 (7): . Slater Emily P, Wilke Lisa M, Böhm Lutz Benedikt, Strauch Konstantin, Lutz Manuel, Gercke Norman, Matthäi Elvira, Hemminki Kari, Försti Asta, Schlesner Matthias, Paramasivam Nagarajan, Bartsch Detlef |
| Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants. Hereditary cancer in clinical practice 2021 8 19 (1): 33. Murali Krithika, Dwarte Tanya M, Nikfarjam Mehrdad, Tucker Katherine M, Vaughan Rhys B, Efthymiou Marios, Collins Allison, Spigelman Allan D, Salmon Lucinda, Johns Amber L, Williams David B, Delatycki Martin B, John Thomas, Stoita Ali |
| 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 |
| Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. Human mutation 2021 7 42 (10): 1265-1278. Johnatty Sharon E, Pesaran Tina, Dolinsky Jill, Yussuf Amal, LaDuca Holly, James Paul A, O'Mara Tracy A, Spurdle Amanda |
| Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. Frontiers in oncology 2021 11 649435. Doddato Gabriella, Valentino Floriana, Giliberti Annarita, Papa Filomena Tiziana, Tita Rossella, Bruno Lucia Pia, Resciniti Sara, Fallerini Chiara, Benetti Elisa, Palmieri Maria, Mencarelli Maria Antonietta, Fabbiani Alessandra, Bruttini Mirella, Orrico Alfredo, Baldassarri Margherita, Fava Francesca, Lopergolo Diego, Lo Rizzo Caterina, Lamacchia Vittoria, Mannucci Sara, Pinto Anna Maria, Curr Aurora, Mancini Virginia, , , Mari Francesca, Renieri Alessandra, Ariani Frances |
| Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer. Clinical breast cancer 2021 5 21 (6): e647-e653. Ece Solmaz Asl?, Yeniay Levent, Gökmen Erhan, Zekio?lu Osman, Haydaro?lu Ayfer, Bilgen I??l, Özk?nay Ferda, Onay Hüsey |
| The results of multigene panel sequencing in Slovak HBOC families. Neoplasma 2021 Mar . Konecny Michal, Kosova Klaudia, Tilandyova Petra, Wachsmannova Lenka, Baldovic Marian, Krajcovic Juraj, Patlevicova Andrea, Markus Jan, Ciernikova So |
| Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2). Cancer genetics 2021 10 258-259 101-109. McReynolds Lisa J, Biswas Kajal, Giri Neelam, Sharan Shyam K, Alter Blanche |
| Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample. Cancer science 2021 1 112 (3): 1310-1319. Yoshida Reiko, Hagio Taichi, Kaneyasu Tomoko, Gotoh Osamu, Osako Tomo, Tanaka Norio, Amino Sayuri, Yaguchi Noriko, Nakashima Eri, Kitagawa Dai, Ueno Takayuki, Ohno Shinji, Nakajima Takeshi, Nakamura Seigo, Miki Yoshio, Hirota Toru, Takahashi Shunji, Matsuura Masaaki, Noda Tetsuo, Mori Seiic |
| Predicted Chemotherapy Benefit for Breast Cancer Patients With Germline Pathogenic Variants in Cancer Susceptibility Genes. JNCI cancer spectrum 2021 1 5 (1): . Kurian Allison W, Ward Kevin C, Abrahamse Paul, Hamilton Ann S, Katz Steven |
| [Oncogénétique dans les cancers de l'ovaire]. La Revue du praticien 2022 7 72 (6): 639-641. Desseignés Camille, Benusiglio Patri |
| The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients. European journal of human genetics : EJHG 2022 5 30 (7): 818-823. de Oliveira Jarbas Maciel, Zurro Nuria Bengala, Coelho Antonio Victor Campos, Caraciolo Marcel Pinheiro, de Alexandre Rodrigo Bertollo, Cervato Murilo Castro, Minillo Renata Moldenhauer, de Vasconcelos Carvalho Neto George, Grivicich Ivana, Oliveira João Bos |
| Genetic testing for hereditary predisposition to breast cancer in the real world: Initial experience. Breast disease 2022 5 41 (1): 249-254. da Silva Fontinele Danilo Rafael, Assunção Ribeiro da Costa Rafael Everton, da Silva Magalhães Maria Kamila, Vieira Sabas Carl |
| Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers. Annals of surgical oncology 2022 2 29 (6): 3578-3590. Huang Chi-Cheng, Tsai Yi-Fang, Liu Chun-Yu, Lien Pei-Ju, Lin Yen-Shu, Chao Ta-Chung, Feng Chin-Jung, Chen Yen-Jen, Lai Jiun-I, Phan Nam Nhut, Hsu Chih-Yi, Chiu Jen-Hwey, Tseng Ling-Mi |
| 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 |
| Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition. Journal of human genetics 2022 1 67 (6): 339-345. Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet |
| 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 |
| Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel. Oncotarget 2023 6 14 580-594. Musa AlHarbi, Nahla Ali Mobark, Wael Abdel Rahman AlJabarat, Hadeel ElBardis, Ebtehal AlSolme, Abdullah Bany Hamdan, Ali H AlFakeeh, Fatimah AlMushawah, Fawz AlHarthi, Abdullah A AlSharm, Ali Abdullah O Balbaid, Naji AlJohani, Alicia Y Zhou, Heather A Robinson, Saleh A Alqahtani, Malak Abedalthaga |
| 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 |
| 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 |
| 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 |
| Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene. Genetics in medicine : official journal of the American College of Medical Genetics 2024 8 101230. Robert D Morgan, George J Burghel, Nicola Flaum, Helene Schlecht, Andrew R Clamp, Jurjees Hasan, Claire Mitchell, Zena Salih, Sarah Moon, Martin Hogg, Rosemary Lord, Claire Forde, Fiona Lalloo, Emma R Woodward, Emma J Crosbie, Stephen S Taylor, Gordon C Jayson, D Gareth R Eva |
| 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 |
| The Use of Glucagon-like Peptide-1 Receptor Agonists in Patients with Type 2 Diabetes Mellitus Does Not Increase the Risk of Pancreatic Cancer: A U.S.-Based Cohort Study. Cancers 2024 5 16 (9): . Mark Ayoub, Carol Faris, Tajana Juranovic, Harleen Chela, Ebubekir Daglil |
| 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 |
| PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience. Tumori 2024 10 3008916241290738. Maria Grazia Tibiletti, Ileana Carnevali, Sofia Facchi, Laura Libera, Corrado Chiappa, Fausto Sessa, Stefano La Rosa, Francesca Rove |
| Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population. Breast cancer research : BCR 2025 1 27 (1): 7. Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flor |
- Page last reviewed:Feb 1, 2024
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