Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 137 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 |
| Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers 2022 7 14 (13): . Rolfes Muriel, Borde Julika, Möllenhoff Kathrin, Kayali Mohamad, Ernst Corinna, Gehrig Andrea, Sutter Christian, Ramser Juliane, Niederacher Dieter, Horváth Judit, Arnold Norbert, Meindl Alfons, Auber Bernd, Rump Andreas, Wang-Gohrke Shan, Ritter Julia, Hentschel Julia, Thiele Holger, Altmüller Janine, Nürnberg Peter, Rhiem Kerstin, Engel Christoph, Wappenschmidt Barbara, Schmutzler Rita K, Hahnen Eric, Hauke J |
| [Oncogénétique dans les cancers de l'ovaire]. La Revue du praticien 2022 7 72 (6): 639-641. Desseignés Camille, Benusiglio Patri |
| The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer. Genes 2022 7 13 (8): . BenAyed-Guerfali Dorra, Kifagi Chamseddine, BenKridis-Rejeb Wala, Ammous-Boukhris Nihel, Ayedi Wajdi, Khanfir Afef, Daoud Jamel, Mokdad-Gargouri Ra |
| Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2. NPJ breast cancer 2022 7 8 (1): 86. Wu Shijie, Qi Lina, Chen Huihui, Zhang Kun, He Jiapan, Guo Xianan, Shen Lu, Zhou Yunxiang, Zhong Xi, Zheng Shu, Zhou Jiaojiao, Chen Yidi |
| Impact of germline mutations in cancer-predisposing genes on long-term survival in patients with epithelial ovarian cancer. British journal of cancer 2022 6 127 (5): 879-885. Kotsopoulos Joanne, Zamani Neda, Rosen Barry, McLaughlin John R, Risch Harvey A, Kim Shana J, Sun Ping, Akbari Mohammad Reza, Narod Steven |
| PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina. Breast cancer research and treatment 2022 May . Gonzalez Ariana, Del Greco Franco, Vargas-Roig Laura, Brun Bianca, Tabares Gonzalo, Mampel Alejandra, Montes Cecilia, Martin Claudia, Lopez Marcela, Rossi Norma, Bruno Luisina, Ponce Carolina, Quaglio Patricia, Yanzi Alvaro, Acevedo Santiago, Lugo Lilia, Lopez Breccia Paula, Avila Silvia, Sisterna Silvina, Del Castillo María Soledad, Vazquez Martín, Nuñez Lina |
| Germline mutations in Chinese ovarian cancer with or without breast cancer. Molecular genetics & genomic medicine 2022 5 10 (7): e1940. Kwong Ava, Ho Cecilia Yuen Sze, Shin Vivian Yvonne, Au Chun Hang, Luk Wing Pan, Fung Ling Hiu, Chan Tsun-Leung, Chan Karen Kar Loen, Ngan Hextan Yuen Sheung, Ma Edmond Shiu Kw |
| 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 |
| Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective. Molecular genetics and genomics : MGG 2022 4 297 (3): 859-871. Molina-Zayas María, Garrido-Navas Carmen, García-Puche Jose Luis, Barwell Julian, Pedrinaci Susana, Atienza Margarita Martínez, García-Linares Susana, de Haro-Muñoz Tomás, Lorente Jose Antonio, Serrano M Jose, Poyatos-Andújar Anton |
| Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor. Hereditary cancer in clinical practice 2022 3 20 (1): 11. Ogrodniczak Alicja, Menkiszak Janusz, Gronwald Jacek, Tomiczek-Szwiec Joanna, Szwiec Marek, Cybulski Cezary, D?bniak Tadeusz, Huzarski Tomasz, To?oczko-Grabarek Aleksandra, Byrski Tomasz, Bia?kowska Katarzyna, Prajzendanc Karolina, Baszuk Piotr, Lubi?ski Jan, Jakubowska An |
| Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients. Journal of Cancer 2022 3 13 (4): 1119-1129. Zong Hong, Zhang Jian, Xu Zhengyang, Pan Jia-Ni, Wang Rong, Han Jinming, Jiang Miao, Ren Ruiping, Zang Li, Wang Haitao, Cao Wen-Mi |
| Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data. European journal of human genetics : EJHG 2022 3 30 (10): 1187-1190. Eyries Mélanie, Ariste Olivier, Legrand Gaelle, Basset Noémie, Guillerm Erell, Perrier Alexandre, Duros Caroline, Cohen-Haguenauer Odile, de la Grange Pierre, Coulet Floren |
| 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 |
| Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women. JCO precision oncology 2022 2 1 1-12. Kurian Allison W, Hughes Elisha, Handorf Elizabeth A, Gutin Alexander, Allen Brian, Hartman Anne-Renee, Hall Michael |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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