Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 226 Records) |
Query Trace: Syndrome and BRCA1[original query] |
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High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9 24 (12): 2578-2586. Flaum Nicola, Crosbie Emma J, Edmondson Richard, Woodward Emma R, Lalloo Fiona, Smith Miriam J, Schlecht Helene, Evans D Gare |
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants. Breast cancer (Tokyo, Japan) 2022 9 30 (1): 110-120. Ohneda Kinuko, Hamanaka Yohei, Kawame Hiroshi, Fuse Nobuo, Nagami Fuji, Suzuki Yoichi, Yamaguchi-Kabata Yumi, Shimada Muneaki, Masamune Atsushi, Aoki Yoko, Ishida Takanori, Yamamoto Masayu |
Characterization of lung cancers in patients with BRCA germline variants: A multicenter series. Lung cancer (Amsterdam, Netherlands) 2022 9 173 67-70. Sanchis-Borja Mateo, Fallet Vincent, Fabre Elisabeth, Wislez Marie, Culine Stéphane, Zalcman Gérard, Spano Jean-Philippe, Buffet Nathalie Chabbert, Coulet Florence, Benusiglio Patrick R, Cadranel Jacqu |
Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes. Clinical genitourinary cancer 2022 9 20 (6): 568-574. Mossanen Matthew, Nassar Amin H, Stokes Samantha M, Martinez-Chanza Nieves, Kumar Vivek, Nuzzo Pier Vitale, Kwiatkowski David J, Garber Judy E, Curran Catherine, Freeman Dory, Preston Mark, Mouw Kent W, Kibel Adam, Choueiri Toni K, Sonpavde Guru, Rana Huma |
BRCA1-associated protein 1 c.368delG mutation leads to the development of multiple BAPomas and cutaneous melanomas: a novel pathogenic variant in BRCA1-associated protein tumor predisposition syndrome. Melanoma research 2022 9 32 (5): 390-392. Cavallo Francesco, Roccuzzo Gabriele, Merli Martina, Avallone Gianluca, Zocchi Lamberto, Ogliara Paola, Pasini Barbara, Quaglino Pietro, Ribero Simo |
[Oncogénétique dans les cancers de l'ovaire]. La Revue du praticien 2022 7 72 (6): 639-641. Desseignés Camille, Benusiglio Patri |
Characteristics of breast cancer patients tested for germline BRCA1/2 mutations by next-generation sequencing in Ramathibodi Hospital, Mahidol University. Cancer reports (Hoboken, N.J.) 2022 7 6 (1): e1664. Oranratnachai Songporn, Yamkaew Watchalawalee, Tunteeratum Atchara, Sukarayothin Thongchai, Iemwimangsa Nareenart, Panvichien Rav |
Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report. Journal of ovarian research 2022 12 15 (1): 127. Liu Ying, Zhu Jing, Wei Xiao, Yang Duoxia, Li Si, Qian Xiaoping, Li |
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 |
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers. Cancer medicine 2022 11 . Mori Tomoharu, Okamoto Yusuke, Mu Anfeng, Ide Yoshimi, Yoshimura Akiyo, Senda Noriko, Inagaki-Kawata Yukiko, Kawashima Masahiro, Kitao Hiroyuki, Tokunaga Eriko, Miyoshi Yasuo, Ohsumi Shozo, Tsugawa Koichiro, Ohta Tomohiko, Katagiri Toyomasa, Ohtsuru Shigeru, Koike Kaoru, Ogawa Seishi, Toi Masakazu, Iwata Hiroji, Nakamura Seigo, Matsuo Keitaro, Takata Mino |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing? International journal of molecular sciences 2022 10 23 (19): . Infante Mar, Arranz-Ledo Mónica, Lastra Enrique, Abella Luis Enrique, Ferreira Raquel, Orozco Marta, Hernández Lara, Martínez Noemí, Durán Merced |
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 |
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 |
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer. Anticancer research 2023 6 43 (7): 2941-2949. Christian Rocca, Giulia Rocca, Pietro Zampieri, Lucio Dell'atti, Nicoletta Bianchi, Carmelo Ippolito, Gianluca Aguia |
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 |
Germline multigene panel testing of patients with endometrial cancer. Oncology letters 2023 5 25 (6): 216. Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janato |
Germline drivers of gynecologic carcinosarcomas. Gynecologic oncology 2023 5 174 34-41. Tiffany Y Sia, Sushmita B Gordhandas, Ozge Birsoy, Yelena Kemel, Anna Maio, Erin Salo-Mullen, Margaret Sheehan, Martee L Hensley, Maria Rubinstein, Vicky Makker, Rachel N Grisham, Roisin E O'Cearbhaill, Kara Long Roche, Jennifer J Mueller, Mario M Leitao, Yukio Sonoda, Dennis S Chi, Nadeem R Abu-Rustum, Michael F Berger, Lora H Ellenson, Alicia Latham, Zsofia Stadler, Kenneth Offit, Carol Aghajanian, Britta Weigelt, Diana Mandelker, Ying L L |
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 |
Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling. BMC cancer 2023 4 23 (1): 339. Melki Rahma, Melloul Marouane, Aissaoui Souria, El Harroudi Tijani, Boukhatem Noureddi |
Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer. International journal of molecular sciences 2023 4 24 (7): . Savkova Alina, Gulyaeva Lyudmila, Gerasimov Aleksey, Krasil'nikov Serg |
How Does Dietary Intake Relate to Dispositional Optimism and Health-Related Quality of Life in Germline BRCA1/2 Mutation Carriers? Nutrients 2023 3 15 (6): . Esser Anne, Neirich Leonie, Grill Sabine, Bischoff Stephan C, Halle Martin, Siniatchkin Michael, Yahiaoui-Doktor Maryam, Kiechle Marion, Lammert Jacqueli |
Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes 2023 2 14 (2): . Pérez-Ibave Diana Cristina, Garza-Rodríguez María Lourdes, Noriega-Iriondo María Fernanda, Flores-Moreno Sonia María, González-Geroniz Manuel Ismael, Espinoza-Velazco Absalon, Castruita-Ávila Ana Lilia, Alcorta-Núñez Fernando, Zayas-Villanueva Omar Alejandro, González-Guerrero Juan Francisco, Alcorta-Garza Adelina, Vidal-Gutiérrez Oscar, Burciaga-Flores Carlos Horac |
Comparing Prognosis for BRCA1, BRCA2, and Non-BRCA Breast Cancer. Cancers 2023 12 15 (23): . Pedro Antunes Meireles, Sofia Fragoso, Teresa Duarte, Sidónia Santos, Catarina Bexiga, Priscila Nejo, Ana Luís, Beatriz Mira, Isália Miguel, Paula Rodrigues, Fátima V |
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 |
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience. Hereditary cancer in clinical practice 2023 11 21 (1): 23. Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagaya |
Optical Genome Mapping Reveals the Landscape of Structural Variations and Their Clinical Significance in HBOC-Related Breast Cancer. Frontiers in bioscience (Landmark edition) 2024 1 29 (1): 2. Yanan Cheng, Li Dong, Dechao Bu, Lei Han, Yi Zhao, Juntian Liu, Xiaojing Guo, Hanli Xu, Jinpu |
Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice. JCO precision oncology 2024 1 8 e2300332. Eirini Papadopoulou, George Rigas, Elena Fountzilas, Anastasios Boutis, Stylianos Giassas, Nikolaos Mitsimponas, Danai Daliani, Dimitrios C Ziogas, Michalis Liontos, Vasileios Ramfidis, Charalampos Christophilakis, Dimitris Matthaios, Theofanis Floros, Chrysiida Florou-Chatzigiannidou, Konstantinos Agiannitopoulos, Angeliki Meintani, Aikaterini Tsantikidi, Anastasia Katseli, Kevisa Potska, Georgios Tsaousis, Vasiliki Metaxa-Mariatou, George Nasioul |
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 |
Counselling and management of women with genetic predisposition to gynaecological cancers. European journal of obstetrics, gynecology, and reproductive biology 2024 1 294 44-48. Naushabah Malik, Banchhita Sa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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