Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 47 Records) |
Query Trace: Ovarian Neoplasms and PMS2[original query] |
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Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. JAMA oncology 2018 Aug . Lu Hsiao-Mei, Li Shuwei, Black Mary Helen, Lee Shela, Hoiness Robert, Wu Sitao, Mu Wenbo, Huether Robert, Chen Jefferey, Sridhar Srijani, Tian Yuan, McFarland Rachel, Dolinsky Jill, Tippin Davis Brigette, Mexal Sharon, Dunlop Charles, Elliott Aar |
The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients. Cancer causes & control : CCC 2019 Jan 30 (1): 97-101. Bernstein-Molho Rinat, Laitman Yael, Schayek Hagit, Iomdin Sarah, Friedman Eit |
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families. Hereditary cancer in clinical practice 2018 11 16 16. Karimi Masoud, von Salomé Jenny, Aravidis Christos, Silander Gustav, Askmalm Marie Stenmark, Henriksson Isabelle, Gebre-Medhin Samuel, Frödin Jan-Erik, Björck Erik, Lagerstedt-Robinson Kristina, Lindblom Annika, Tham Em |
The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants. International journal of cancer 2018 11 144 (11): 2683-2694. Schubert Stephanie, van Luttikhuizen Jana L, Auber Bernd, Schmidt Gunnar, Hofmann Winfried, Penkert Judith, Davenport Colin F, Hille-Betz Ursula, Wendeburg Lena, Bublitz Janin, Tauscher Marcel, Hackmann Karl, Schröck Evelin, Scholz Caroline, Wallaschek Hannah, Schlegelberger Brigitte, Illig Thomas, Steinemann Dor |
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. Journal of cancer research and clinical oncology 2018 10 144 (12): 2495-2513. Bonache Sandra, Esteban Irene, Moles-Fernández Alejandro, Tenés Anna, Duran-Lozano Laura, Montalban Gemma, Bach Vanessa, Carrasco Estela, Gadea Neus, López-Fernández Adrià, Torres-Esquius Sara, Mancuso Francesco, Caratú Ginevra, Vivancos Ana, Tuset Noemí, Balmaña Judith, Gutiérrez-Enríquez Sara, Diez Orla |
The spectrum of Lynch syndrome-associated germ-line mutations in Russia. European journal of medical genetics 2019 9 63 (3): 103753. Yanus Grigoriy A, Akhapkina Tatiana A, Iyevleva Aglaya G, Kornilov Alexandr V, Suspitsin Evgeny N, Kuligina Ekaterina Sh, Ivantsov Alexandr O, Aleksakhina Svetlana N, Sokolova Tatiana N, Sokolenko Anna P, Togo Alexandr V, Imyanitov Evgeny |
Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. Journal of ovarian research 2019 Aug 12 (1): 80. Li Wenhui, Shao Di, Li Lei, Wu Ming, Ma Shuiqing, Tan Xianjie, Zhong Sen, Guo Fengming, Wang Zhe, Ye Mingz |
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition. Cancers 2019 9 11 (9): . Tedaldi Gianluca, Pirini Francesca, Tebaldi Michela, Zampiga Valentina, Cangini Ilaria, Danesi Rita, Arcangeli Valentina, Ravegnani Mila, Abou Khouzam Raefa, Molinari Chiara, Oliveira Carla, Morgagni Paolo, Saragoni Luca, Bencivenga Maria, Ulivi Paola, Amadori Dino, Martinelli Giovanni, Falcini Fabio, Ranzani Guglielmina Nadia, Calistri Danie |
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies. Hereditary cancer in clinical practice 2019 7 17 21. Buckingham Lela, Mitchell Rachel, Maienschein-Cline Mark, Green Stefan, Hu Vincent Hong, Cobleigh Melody, Rotmensch Jacob, Burgess Kelly, Usha Lyd |
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel. Journal of medical genetics 2019 12 57 (6): 380-384. Lerner-Ellis Jordan, Sopik Victoria, Wong Andrew, Lázaro Conxi, Narod Steven A, Charames George |
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. Cancer science 2020 Aug . Ryu Jin-Sun, Lee Hye-Young, Cho Eun Hae, Yoon Kyong-Ah, Kim Min-Kyeong, Joo Jungnam, Lee Eun-Sook, Kang Han-Sung, Lee Seeyoun, Lee Dong Ock, Lim Myong Cheol, Kong Sun-You |
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection. Journal of translational medicine 2020 Jun 18 (1): 232. Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Merced |
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Aging 2020 Feb 12 . Chen Bo, Zhang Guochun, Li Xuerui, Ren Chongyang, Wang Yulei, Li Kai, Mok Hsiaopei, Cao Li, Wen Lingzhu, Jia Minghan, Li Cheukfai, Guo Liping, Wei Guangnan, Lin Jiali, Li Yingzi, Zhang Yuchen, Han-Zhang Han, Liu Jing, Lizaso Analyn, Liao Ni |
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. BMC medical genomics 2020 Feb 13 (1): 21. da Costa E Silva Carvalho Simone, Cury Nathalia Moreno, Brotto Danielle Barbosa, de Araujo Luiza Ferreira, Rosa Reginaldo Cruz Alves, Texeira Lorena Alves, Plaça Jessica Rodrigues, Marques Adriana Aparecida, Peronni Kamila Chagas, Ruy Patricia de Cássia, Molfetta Greice Andreotti, Moriguti Julio Cesar, Carraro Dirce Maria, Palmero Edenir Inêz, Ashton-Prolla Patricia, de Faria Ferraz Victor Evangelista, Silva Wilson Arau |
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Human mutation 2020 Dec . Felicio Paula S, Grasel Rebeca S, Campacci Natalia, de Paula Andre E, Galvão Henrique C R, Torrezan Giovana T, Sabato Cristina S, Fernandes Gabriela C, Souza Cristiano P, Michelli Rodrigo D, Andrade Carlos E, Barros Bruna Durães De Figueiredo, Matsushita Marcus M, Revil Timothée, Ragoussis Jiannis, Couch Fergus J, Hart Steven N, Reis Rui M, Melendez Matias E, Tonin Patricia N, Carraro Dirce M, Palmero Edenir |
Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness. Military medicine 2020 . Lovejoy Leann A, Turner Clesson E, Shriver Craig D, Ellsworth Rachel |
Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas. Journal of personalized medicine 2021 8 11 (7): . Huelsman Karen M, Basil Jack B, Sisson Rebecca, Lipe Lindsay R, Mahon Brett, Draper David |
Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer. Cancers 2021 Jan 13 (1): . Lepkes Louisa, Kayali Mohamad, Blümcke Britta, Weber Jonas, Suszynska Malwina, Schmidt Sandra, Borde Julika, Klonowska Katarzyna, Wappenschmidt Barbara, Hauke Jan, Kozlowski Piotr, Schmutzler Rita K, Hahnen Eric, Ernst Corin |
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 |
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 |
New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability. Genetic testing and molecular biomarkers 2022 1 26 (1): 17-25. Sahin Ibrahim, Saat Hani |
No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing. JCO precision oncology 2022 1 4 51-60. Stoll Jessica, Rosenthal Eric, Cummings Shelly, Willmott Jamie, Bernhisel Ryan, Kupfer Sonia |
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 |
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. Genes 2023 8 14 (8): . Luiza Côrtes, Tatiane Ramos Basso, Rolando André Rios Villacis, Jeferson Dos Santos Souza, Mads Malik Aagaard Jørgensen, Maria Isabel Achatz, Silvia Regina Rogat |
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 |
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 |
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. Molecular oncology 2023 4 . Sun Zhe, Bai Chujie, Su Miaoyi, Tang Haimeng, Wu Xiaoying, Wang Yue, Bao Hua, Liu Xunbiao, Wu Xue, Shao Yang, Xu B |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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