PMC Links for Nucleotide (Select 262359905) - PMC

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 68970364.

A Novel Mutation-BRCA1 Associated Hereditary Haplotype of Intragenic Markers of BRCA1 Gene in a Family with History of Breast Cancer

Seyed Mohsen Miresmaeili, Fatemeh Jafari

Asian Pac J Cancer Prev. 2019; 20(2): 611–614. doi: 10.31557/APJCP.2019.20.2.611

PMCID:: PMC6897036

Abstract Article PDF–337K

Select item 68598745.

Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data

Arianna Nicolussi, Francesca Belardinilli, Valentina Silvestri, Yasaman Mahdavian, Virginia Valentini, Sonia D’Inzeo, Marialaura Petroni, Massimo Zani, Sergio Ferraro, Stefano Di Giulio, Francesca Fabretti, Beatrice Fratini, Angela Gradilone, Laura Ottini, Giuseppe Giannini, Anna Coppa, Carlo Capalbo

PeerJ. 2019; 7: e7972. Published online 2019 Nov 15. doi: 10.7717/peerj.7972

PMCID:: PMC6859874

Abstract Article PDF–5.7M

Select item 67565536.

Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients

Veronica Fragoso-Ontiveros, Jose Antonio Velázquez-Aragón, Paulina Maria Nuñez-Martínez, Maria de la Luz Mejía-Aguayo, Silvia Vidal-Millán, Abraham Pedroza-Torres, Yuliana Sánchez-Contreras, Miguel Angel Ramírez-Otero, Rodolfo Muñiz-Mendoza, Julieta Domínguez-Ortíz, Talia Wegman-Ostrosky, Juan Enrique Bargalló-Rocha, Dolores Gallardo-Rincón, Nancy Reynoso-Noveron, Cristian Arriaga-Canon, Abelardo Meneses-García, Luis Alonso Herrera-Montalvo, Rosa Maria Alvarez-Gomez

PLoS One. 2019; 14(9): e0222709. Published online 2019 Sep 23. doi: 10.1371/journal.pone.0222709

PMCID:: PMC6756553

Abstract Article PDF–816K

Select item 67344597.

A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China

Wenhui Li, Lei Li, Ming Wu

Hered Cancer Clin Pract. 2019; 17: 26. Published online 2019 Sep 10. doi: 10.1186/s13053-019-0126-4

PMCID:: PMC6734459

Abstract Article PDF–856K

Select item 66782978.

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants

Paola Concolino, Gianfranco Gelli, Roberta Rizza, Alessandra Costella, Giovanni Scambia, Ettore Capoluongo

Int J Mol Sci. 2019 Jul; 20(14): 3442. Published online 2019 Jul 12. doi: 10.3390/ijms20143442

PMCID:: PMC6678297

Abstract Article PDF–7.5M

Select item 63329479.

Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population

Caglayan Geredeli, Nurgul Yasar, Abdullah Sakin

Int J Breast Cancer. 2019; 2019: 9645147. Published online 2019 Jan 1. doi: 10.1155/2019/9645147

PMCID:: PMC6332947

Abstract Article PDF–691K

Select item 624944710.

BRCA1 Promoter Methylation and Clinicopathological Characteristics in Sporadic Breast Cancer Patients in Indonesia

Wirsma Arif Harahap, Ikhwan R Sudji, Ricvan Dana Nindrea

Asian Pac J Cancer Prev. 2018; 19(9): 2643–2649. doi: 10.22034/APJCP.2018.19.9.2643

PMCID:: PMC6249447

Abstract Article PDF–647K

Select item 618943411.

BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea

Do-Hoon Kim, Chi-Heum Cho, Sun Young Kwon, Nam-Hee Ryoo, Dong-Seok Jeon, Wonmok Lee, Jung-Sook Ha

J Gynecol Oncol. 2018 Nov; 29(6): e90. Published online 2018 Aug 9. doi: 10.3802/jgo.2018.29.e90

PMCID:: PMC6189434

Abstract Article PDF–2.0M

Select item 617183712.

BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population

Tadeusz Dębniak, Rodney J. Scott, Bohdan Górski, Bartłomiej Masojć, Andrzej Kram, Romuald Maleszka, Cezary Cybulski, Katarzyna Paszkowska-Szczur, Aniruddh Kashyap, Dawid Murawa, Karolina Malińska, Magdalena Kiedrowicz, Emilia Rogoża-Janiszewska, Helena Rudnicka, Jakub Deptuła, Paweł Domagała, Wojciech Kluźniak, Marcin R. Lener, Jan Lubiński

PLoS One. 2018; 13(10): e0204768. Published online 2018 Oct 4. doi: 10.1371/journal.pone.0204768

PMCID:: PMC6171837

Abstract Article PDF–900K

Select item 605792413.

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

Anne ML Jansen, Heleen M van der Klift, Marieke AE Roos, Jaap DH van Eendenburg, Carli MJ Tops, Juul T Wijnen, Frederik J Hes, Hans Morreau, Tom van Wezel

Eur J Hum Genet. 2018 Aug; 26(8): 1143–1150. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0153-z

PMCID:: PMC6057924

Abstract Article PDF–805K

Select item 601597914.

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

Nirmala Dushyanthi Sirisena, Adebowale Adeyemo, Anchala Ishani Kuruppu, Nilakshi Samaranayake, Vajira Harshadeva Weerabaddana Dissanayake

J Breast Cancer. 2018 Jun; 21(2): 165–172. Published online 2018 Jun 20. doi: 10.4048/jbc.2018.21.2.165

PMCID:: PMC6015979

Abstract Article PDF–264K

Select item 593605115.

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing

Yi Liang, Xuexi Yang, Hong Li, Anna Zhu, Zhiwei Guo, Ming Li

Med Sci Monit. 2018; 24: 2465–2475. Published online 2018 Apr 23. doi: 10.12659/MSM.905812

PMCID:: PMC5936051

Abstract Article PDF–940K

Select item 572874116.

The first case report of a large deletion of the BRCA1 gene in Croatia: A case report

Vesna Musani, Ilona Sušac, Petar Ozretić, Domagoj Eljuga, Sonja Levanat

Medicine (Baltimore) 2017 Dec; 96(48): e8667. Published online 2017 Dec 1. doi: 10.1097/MD.0000000000008667

PMCID:: PMC5728741

Abstract Article PDF–230K

Select item 560201717.

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger

Eur J Hum Genet. 2017 Oct; 25(10): 1147–1154. Published online 2017 Jul 26. doi: 10.1038/ejhg.2017.116

PMCID:: PMC5602017

Abstract Article PDF–1.3M

Select item 501202018.

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer

Andrea Prodosmo, Amelia Buffone, Manlio Mattioni, Agnese Barnabei, Agnese Persichetti, Aurora De Leo, Marialuisa Appetecchia, Arianna Nicolussi, Anna Coppa, Salvatore Sciacchitano, Carolina Giordano, Paola Pinnarò, Giuseppe Sanguineti, Lidia Strigari, Gabriele Alessandrini, Francesco Facciolo, Maurizio Cosimelli, Gian Luca Grazi, Giacomo Corrado, Enrico Vizza, Giuseppe Giannini, Silvia Soddu

J Exp Clin Cancer Res. 2016; 35(1): 135. Published online 2016 Sep 6. doi: 10.1186/s13046-016-0410-3

Correction in:: J Exp Clin Cancer Res. 2016; 35: 185.

PMCID:: PMC5012020

Abstract Article PDF–1.5M

Select item 490781319.

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

Maxime P. Vallée, Tonya L. Di Sera, David A. Nix, Andrew M. Paquette, Michael T. Parsons, Russel Bell, Andrea Hoffman, Frans B. L. Hogervorst, David E. Goldgar, Amanda B. Spurdle, Sean V. Tavtigian

Hum Mutat. 2016 Jul; 37(7): 627–639. Published online 2016 Apr 15. doi: 10.1002/humu.22973

PMCID:: PMC4907813

Abstract Article PDF–613K

Select item 488499420.

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer

Po-Han Lin, Wen-Hung Kuo, Ai-Chu Huang, Yen-Shen Lu, Ching-Hung Lin, Sung-Hsin Kuo, Ming-Yang Wang, Chun-Yu Liu, Fiona Tsui-Fen Cheng, Ming-Hsin Yeh, Huei-Ying Li, Yu-Hsuan Yang, Yu-Hua Hsu, Sheng-Chih Fan, Long-Yuan Li, Sung-Liang Yu, King-Jen Chang, Pei-Lung Chen, Yen-Hsuan Ni, Chiun-Sheng Huang

Oncotarget. 2016 Feb 16; 7(7): 8310–8320. Published online 2016 Jan 27. doi: 10.18632/oncotarget.7027

PMCID:: PMC4884994

Abstract Article PDF–4.2M

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