Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 39 Records) |
| Query Trace: Neoplasms and BMPR1A[original query] |
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| Genetic variation in bone morphogenetic proteins and breast cancer risk in hispanic and non-hispanic white women: The breast cancer health disparities study. International journal of cancer. Journal international du cancer 2012 Nov . Slattery ML, John EM, Torres-Mejia G, Herrick JS, Giuliano AR, Baumgartner KB, Hines LM, Wolff RK |
| Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. Scandinavian journal of gastroenterology 2013 Jun 48 (6): 672-8. Tanskanen Tomas, Gylfe Alexandra E, Katainen Riku, Taipale Minna, Renkonen-Sinisalo Laura, Mecklin Jukka-Pekka, Järvinen Heikki, Tuupanen Sari, Kilpivaara Outi, Vahteristo Pia, Aaltonen Lauri |
| Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Gastroenterology 2013 Jun 144 (7): 1402-9, 1409.e1-5. Ngeow Joanne, Heald Brandie, Rybicki Lisa A, Orloff Mohammed S, Chen Jin Lian, Liu Xiuli, Yerian Lisa, Willis Joseph, Lehtonen Heli J, Lehtonen Rainer, Mester Jessica L, Moline Jessica, Burke Carol A, Church James, Aaltonen Lauri A, Eng Char |
| Genotype-defined cancer risk in juvenile polyposis syndrome. The British journal of surgery 2015 Jan 102 (1): 114-8. Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi F H, Kalady M F, Burke C A, Church J |
| Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Feb 33 (5): 426-32. Chubb Daniel, Broderick Peter, Frampton Matthew, Kinnersley Ben, Sherborne Amy, Penegar Steven, Lloyd Amy, Ma Yussanne P, Dobbins Sara E, Houlston Richard |
| Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps. Scandinavian journal of gastroenterology 2016 May 1-8. Jelsig Anne Marie, Brusgaard Klaus, Hansen Tine Plato, Qvist Niels, Larsen Martin, Bojesen Anders, Nielsen Claus Buhl, Ousager Lilian Bom |
| Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. World journal of gastroenterology 2016 Feb 22 (7): 2314-25. Chang Yuli Christine, Chang Jan-Gowth, Liu Ta-Chih, Lin Chien-Yu, Yang Shu-Fen, Ho Cheng-Mao, Chen William Tzu-Liang, Chang Ya-Si |
| Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. Human pathology 2018 7 82 20-31. Meiss Alice E, Thomas Martha, Modesitt Susan C, Ring Kari L, Atkins Kristen A, Mills Anne |
| 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 |
| Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A. Clinical and translational gastroenterology 2019 Jul . Lieberman Sari, Beeri Rachel, Walsh Tom, Schechter Menachem, Keret Dan, Half Elizabet, Gulsuner Suleyman, Tomer Ariela, Jacob Harold, Cohen Shlomi, Basel-Salmon Lina, Mansur Mahmud, Berger Rachel, Katz Lior H, Golomb Eliahu, Peretz Tamar, Levy Zohar, Kedar Inbal, King Mary-Claire, Levy-Lahad Ephrat, Goldberg Ya |
| Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes. Clinical and translational gastroenterology 2019 5 10 (5): 1-9. Gilad Ophir, Rosner Guy, Fliss-Isakov Naomi, Aharon-Kaspi Sivan, Strul Hana, Gluck Nathan, Kariv Revit |
| Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms. Artificial cells, nanomedicine, and biotechnology 2019 Dec 47 (1): 1101-1112. Wang Le, Wang Hao, Wang Ting, Liu Jinhui, Chen Wei, Wang Yamin, Chen Chao, Zhu Hongli, Dai Pengg |
| Exome sequencing in 51 early onset non-familial CRC cases. Molecular genetics & genomic medicine 2019 2 7 (5): e605. Thutkawkorapin Jessada, Lindblom Annika, Tham Em |
| Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May . Blatter Robert, Tschupp Benjamin, Aretz Stefan, Bernstein Inge, Colas Chrystelle, Evans D Gareth, Genuardi Maurizio, Hes Frederik J, Hüneburg Robert, Järvinen Heikki, Lalloo Fiona, Moeslein Gabriela, Renkonen-Sinisalo Laura, Resta Nicoletta, Spier Isabel, Varvara Dora, Vasen Hans, Latchford Andrew R, Heinimann Ka |
| Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer prevention research (Philadelphia, Pa.) 2020 10 14 (2): 215-222. MacFarland Suzanne P, Ebrahimzadeh Jessica E, Zelley Kristin, Begum Lubna, Bass Lee M, Brand Randall E, Dudley Beth, Fishman Douglas S, Ganzak Amanda, Karloski Eve, Latham Alicia, Llor Xavier, Plon Sharon, Riordan Mary K, Scollon Sarah R, Stadler Zsofia K, Syngal Sapna, Ukaegbu Chinedu, Weiss Jennifer M, Yurgelun Matthew B, Brodeur Garrett M, Mamula Petar, Katona Bryson |
| Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing. Scientific reports 2020 Jan 10 (1): 504. Nemtsova Marina V, Kalinkin Alexey I, Kuznetsova Ekaterina B, Bure Irina V, Alekseeva Ekaterina A, Bykov Igor I, Khorobrykh Tatiana V, Mikhaylenko Dmitry S, Tanas Alexander S, Kutsev Sergey I, Zaletaev Dmitry V, Strelnikov Vladimir |
| Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels. Scientific reports 2020 1 10 (1): 223. Chirita-Emandi Adela, Andreescu Nicoleta, Zimbru Cristian G, Tutac Paul, Arghirescu Smaranda, Serban Margit, Puiu Mar |
| Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation. Diseases of the colon and rectum 2021 12 65 (6): 793-803. Park Ji Soo, Park Jung Won, Shin Saeam, Lee Seung-Tae, Shin Sang Joon, Min Byung Soh, Park Soo Jung, Park Jae Jun, Cheon Jae Hee, Kim Won Ho, Kim Tae |
| The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer. Cancers 2021 10 13 (20): . Frostberg Erik, Petersen Annabeth Høgh, Bojesen Anders, Rahr Hans Bjarke, Lindebjerg Jan, Rønlund Kari |
| Survey of Germline Variants in Cancer-Associated Genes in Young Adults with Colorectal Cancer. Genes, chromosomes & cancer 2021 Nov . Mikaeel Reger R, Young Joanne P, Li Yun, Smith Eric, Horsnell Mehgan, Uylaki Wendy, Tapia Rico Gonzalo, Poplawski Nicola K, Hardingham Jennifer E, Tomita Yoko, Townsend Amanda R, Feng Jinghua, Zibat Arne, Kaulfuß Silke, Müller Christian, Yigit Gökhan, Wollnik Bernd, Price Timothy |
| Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers. Clinical and translational gastroenterology 2022 9 13 (10): e00527. Rosner Guy, Petel-Galil Yael, Laish Ido, Levi Zohar, Kariv Revital, Strul Hana, Gilad Ophir, Gluck Nath |
| Detection of a novel panel of 24 genes with high frequencies of mutation in gastric cancer based on next-generation sequencing. World journal of clinical cases 2022 May 10 (15): 4761-4775. Zeng Hui-Hui, Yang Ze, Qiu Ye-Bei, Bashir Shoaib, Li Yin, Xu Me |
| 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 |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
| Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology 2022 11 9 (1): 95-101. Holowatyj Andreana N, Washington Mary K, Tavtigian Sean V, Eng Cathy, Horton Carol |
| Molecular characteristics of young-onset colorectal cancer in Vietnamese patients. Asia-Pacific journal of clinical oncology 2022 Jan . Do Minh Duc, Nguyen Thinh Huu, Le Khuong Thai, Le Linh Hoang Gia, Nguyen Bac Hoang, Le Kien Trung, Doan Thao Phuong Thi, Ho Chuong Quoc, Nguyen Hoai-Nghia, Tran Tuan Diep, Vu Hoang A |
| Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis. Cancers 2023 7 15 (14): . Michael H Storandt, Kara R Rogen, Anushka Iyyangar, Rylie R Schnell, Jessica L Mitchell, Joleen M Hubbard, Frank A Sinicrope, Aminah Jatoi, Amit Mahipal, Qian Shi, Zhaohui J |
| Bioinformatics Analysis of the Genetic and Epigenetic Alterations of Bone Morphogenetic Protein Receptors in Metastatic Breast Cancer. Biochemical genetics 2023 7 . Adam Hermawan, Herwandhani Put |
| Lynch syndrome: influence of additional susceptibility variants on cancer risk. European journal of human genetics : EJHG 2023 4 . Roseline Vibert, Jasmine Hasnaoui, Alexandre Perrier, Alexandra Lefebvre, Chrystelle Colas, Marion Dhooge, Noémie Basset, Albain Chansavang, Camille Desseignes, Alex Duval, Solenne Farelly, Nadim Hamzaoui, Pierre Laurent-Puig, Julie Metras, Diane Moliere, Martine Muleris, Jeanne Netter, Mehdi Touat, Franck Bielle, Karim Labreche, Romain Nicolle, Géraldine Perkins, Mathilde Warcoin, Florence Coulet, Patrick R Benusigl |
| Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico. Frontiers in genetics 2023 2 14 1094260. Díaz-Velásquez Clara Estela, Gitler Rina, Antoniano Adriana, Kershenovich Sefchovich Ronny, De La Cruz-Montoya Aldo Hugo, Martínez-Gregorio Héctor, Rojas-Jiménez Ernesto Arturo, Cortez Cardoso Penha Ricardo, Terrazas Luis Ignacio, Wegman-Ostrosky Talia, Levi-Lahad Ephrat, Zabaleta Jovanny, Perdomo Sandra, Vaca-Paniagua Feli |
- Page last reviewed:Feb 1, 2024
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