HuGE Literature Finder
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| Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021 Jul 30 (7): 811-816. Duzkale Neslihan, Oz Ozlem, Turkmenoglu Tugba Taskin, Cetinkaya Kadir, Eren Tulay, Yalcin Suay |
| Genetic testing for assessment of lynch syndrome in young patients with polyps. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2021 Jun . Laish Ido, Goldberg Yael, Friedman Eitan, Kedar Inbal, Katz Lior, Levi Zohar, Gingold-Belfer Rachel, Kopylov Uri, Feldman Dan, Levi-Reznick Gili, Half Elizabe |
| 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 |
Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.
Human reproduction (Oxford, England) 2021 11 . Tyrmi Jaakko S, Arffman Riikka K, Pujol-Gualdo Natàlia, Kurra Venla, Morin-Papunen Laure, Sliz Eeva, , Piltonen Terhi T, Laisk Triin, Kettunen Johannes, Laivuori Hanne |
| Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Human molecular genetics 2021 9 31 (3): 347-361. Little Amarise, Hu Yao, Sun Quan, Jain Deepti, Broome Jai, Chen Ming-Huei, Thibord Florian, McHugh Caitlin, Surendran Praveen, Blackwell Thomas W, Brody Jennifer A, Bhan Arunoday, Chami Nathalie, de Vries Paul S, Ekunwe Lynette, Heard-Costa Nancy, Hobbs Brian D, Manichaikul Ani, Moon Jee-Young, Preuss Michael H, Ryan Kathleen, Wang Zhe, Wheeler Marsha, Yanek Lisa R, Abecasis Goncalo R, Almasy Laura, Beaty Terri H, Becker Lewis C, Blangero John, Boerwinkle Eric, Butterworth Adam S, Choquet Hélène, Correa Adolfo, Curran Joanne E, Faraday Nauder, Fornage Myriam, Glahn David C, Hou Lifang, Jorgenson Eric, Kooperberg Charles, Lewis Joshua P, Lloyd-Jones Donald M, Loos Ruth J F, Min Yuan-I, Mitchell Braxton D, Morrison Alanna C, Nickerson Deborah A, North Kari E, O'Connell Jeffrey R, Pankratz Nathan, Psaty Bruce M, Vasan Ramachandran S, Rich Stephen S, Rotter Jerome I, Smith Albert V, Smith Nicholas L, Tang Hua, Tracy Russell P, Conomos Matthew P, Laurie Cecelia A, Mathias Rasika A, Li Yun, Auer Paul L, , Thornton Timothy, Reiner Alexander P, Johnson Andrew D, Raffield Laura |
| 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 |
| Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 2020 Oct 8 (10): . Stolarova Lenka, Jelinkova Sandra, Storchova Radka, Machackova Eva, Zemankova Petra, Vocka Michal, Kodet Ondrej, Kral Jan, Cerna Marta, Volkova Zuzana, Janatova Marketa, Soukupova Jana, Stranecky Viktor, Dundr Pavel, Foretova Lenka, Macurek Libor, Kleiblova Petra, Kleibl Zden |
| 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 |
| 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 |
| Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. Clinical biochemistry 2019 Nov . Rodríguez-Balada Marta, Roig Bàrbara, Melé Mireia, Albacar Cinta, Serrano Sara, Salvat Mònica, Querol Montserrat, Borràs Joan, Martorell Lourdes, Gumà Jos |
| Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32 (Supplementum2): 72-78. Soukupová Jana, Lhotová Klára, Zemánková Petra, Vocka Michal, Janatová Markéta, Stolarová Lenka, Borecká Marianna, Kleiblová Petra, Machácková Eva, Foretová Lenka, Koudová Monika, Lhota Filip, Tavandzis Spiros, Zikán Michal, Stránecký Viktor, Veselá Kamila, Panczak Aleš, Kotlas Jaroslav, Kleibl Zden |
| Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary cancer in clinical practice 2019 17 5. Henn Jonas, Spier Isabel, Adam Ronja S, Holzapfel Stefanie, Uhlhaas Siegfried, Kayser Katrin, Plotz Guido, Peters Sophia, Aretz Stef |
| Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. Breast cancer research : BCR 2018 Aug 20 (1): 87. Penkert Judith, Schmidt Gunnar, Hofmann Winfried, Schubert Stephanie, Schieck Maximilian, Auber Bernd, Ripperger Tim, Hackmann Karl, Sturm Marc, Prokisch Holger, Hille-Betz Ursula, Mark Dorothea, Illig Thomas, Schlegelberger Brigitte, Steinemann Dor |
| Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Yurgelun Matthew B, Chittenden Anu B, Morales-Oyarvide Vicente, Rubinson Douglas A, Dunne Richard F, Kozak Margaret M, Qian Zhi Rong, Welch Marisa W, Brais Lauren K, Da Silva Annacarolina, Bui Justin L, Yuan Chen, Li Tingting, Li Wanwan, Masuda Atsuhiro, Gu Mancang, Bullock Andrea J, Chang Daniel T, Clancy Thomas E, Linehan David C, Findeis-Hosey Jennifer J, Doyle Leona A, Thorner Aaron R, Ducar Matthew D, Wollison Bruce M, Khalaf Natalia, Perez Kimberly, Syngal Sapna, Aguirre Andrew J, Hahn William C, Meyerson Matthew L, Fuchs Charles S, Ogino Shuji, Hornick Jason L, Hezel Aram F, Koong Albert C, Nowak Jonathan A, Wolpin Brian |
| Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PLoS genetics 2018 Apr 14 (4): e1007355. Paulo Paula, Maia Sofia, Pinto Carla, Pinto Pedro, Monteiro Augusta, Peixoto Ana, Teixeira Manuel |
| Germline Genetic Features of Young Individuals With Colorectal Cancer. Gastroenterology 2018 03 154 (4): 897-905.e1. Stoffel Elena M, Koeppe Erika, Everett Jessica, Ulintz Peter, Kiel Mark, Osborne Jenae, Williams Linford, Hanson Kristen, Gruber Stephen B, Rozek Laura |
| Men seeking counselling in a Breast Cancer Risk Evaluation Clinic. Ecancermedicalscience 2018 12 804. Freitas Ana Catarina, Opinião Ana, Fragoso Sofia, Nunes Hugo, Santos Madalena, Clara Ana, Bento Sandra, Luis Ana, Silva Jorge, Moura Cecília, Filipe Bruno, Machado Patrícia, Santos Sidónia, André Saudade, Rodrigues Paula, Parreira Joana, Vaz Fáti |
| The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome. Cancer research and treatment : official journal of Korean Cancer Association 2017 Apr 49 (2): 430-436. Lener Marcin R, Kashyap Aniruddh, Kluzniak Wojciech, Cybulski Cezary, Soluch Agnieszka, Pietrzak Sandra, Huzarski Tomasz, Gronwald Jacek, Lubinski J |
| Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing. BMC medical genomics 2017 05 10 (1): 33. Cheng Donavan T, Prasad Meera, Chekaluk Yvonne, Benayed Ryma, Sadowska Justyna, Zehir Ahmet, Syed Aijazuddin, Wang Yan Elsa, Somar Joshua, Li Yirong, Yelskaya Zarina, Wong Donna, Robson Mark E, Offit Kenneth, Berger Michael F, Nafa Khedoudja, Ladanyi Marc, Zhang Liyi |
| The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ breast cancer 2017 3 22. Slavin Thomas P, Maxwell Kara N, Lilyquist Jenna, Vijai Joseph, Neuhausen Susan L, Hart Steven N, Ravichandran Vignesh, Thomas Tinu, Maria Ann, Villano Danylo, Schrader Kasmintan A, Moore Raymond, Hu Chunling, Wubbenhorst Bradley, Wenz Brandon M, D'Andrea Kurt, Robson Mark E, Peterlongo Paolo, Bonanni Bernardo, Ford James M, Garber Judy E, Domchek Susan M, Szabo Csilla, Offit Kenneth, Nathanson Katherine L, Weitzel Jeffrey N, Couch Fergus |
| Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 Nov 29 (11): 1381-1389. Ring Kari L, Bruegl Amanda S, Allen Brian A, Elkin Eric P, Singh Nanda, Hartman Anne-Renee, Daniels Molly S, Broaddus Russell |
| Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes. International journal of cancer. Journal international du cancer 2015 Dec . Villacis Rolando A R, Miranda Priscila M, Gomy Israel, Santos Erika M M, Carraro Dirce M, Achatz Maria I, Rossi Benedito M, Rogatto Silvia |
| Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 2015 Jan 121 (1): 25-33. Tung Nadine, Battelli Chiara, Allen Brian, Kaldate Rajesh, Bhatnagar Satish, Bowles Karla, Timms Kirsten, Garber Judy E, Herold Christina, Ellisen Leif, Krejdovsky Jill, DeLeonardis Kim, Sedgwick Kristin, Soltis Kathleen, Roa Benjamin, Wenstrup Richard J, Hartman Anne-Ren |
| BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer 2013 Jan 119 (2): 332-8. Pennington Kathryn P, Walsh Tom, Lee Ming, Pennil Christopher, Novetsky Akiva P, Agnew Kathy J, Thornton Anne, Garcia Rochelle, Mutch David, King Mary-Claire, Goodfellow Paul, Swisher Elizabeth |
| CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. Arquivos de gastroenterologia 2012 Dec 49 (4): 273-8. Abud Jamile, Prolla João Carlos, |
| Association of rare MSH6 variants with familial breast cancer. Breast cancer research and treatment 2010 Sep 123 (2): 315-20. Wasielewski Marijke, Riaz Muhammad, Vermeulen Joyce, van den Ouweland Ans, Labrijn-Marks Ineke, Olmer Renske, van der Spaa Linda, Klijn Jan G M, Meijers-Heijboer Hanne, Dooijes Dennis, Schutte Mie |
| Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genetic testing and molecular biomarkers 2010 Aug 14 (4): 515-26. Guénard Frédéric, Pedneault Christopher St-Laurent, Ouellette Geneviève, Labrie Yvan, Simard Jacques, , Durocher Franci |
| The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hereditary cancer in clinical practice 2009 7 (1): 4. Ruijs Marielle W G, Broeks Annegien, Menko Fred H, Ausems Margreet G E M, Wagner Anja, Oldenburg Rogier, Meijers-Heijboer Hanne, van't Veer Laura J, Verhoef Sen |
| Low frequency of CHEK2 mutations in familial pancreatic cancer. Familial cancer 2006 5 (4): 305-8. Bartsch Detlef K, Krysewski Kristina, Sina-Frey Mercedes, Fendrich Volker, Rieder Harald, Langer Peter, Kress Ralf, Schneider Margarete, Hahn Stephan A, Slater Emily |
| CHEK2 1100delC is not a risk factor for male breast cancer population. International journal of cancer. Journal international du cancer 2004 Jan 108 (3): 475-6. Syrjäkoski Kirsi, Kuukasjärvi Tuula, Auvinen Anssi, Kallioniemi Olli |
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- Page last updated:Jun 28, 2022
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