Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

by Muhammad Usman Rashid, Noor Muhammad, Faiz Ali Khan, Umara Shehzad, Humaira Naeemi, Naila Malkani, Ute Hamann
Published 2020-12-01

Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer

by Marina Pavanello, Isaac HY Chan, Amir Ariff, Paul DP Pharoah, Simon A. Gayther, Susan J. Ramus
Published 2020-10-01

Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data

by Jing Chen, Jun-tao Guo
Published 2020-11-01

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications

by Andreia Brandão, Paula Paulo, Manuel R. Teixeira
Published 2020-07-01

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma

by Masato Yonamine, Koichiro Wasano, Yuichi Aita, Takehito Sugasawa, Katsutoshi Takahashi, Yasushi Kawakami, Hitoshi Shimano, Hiroyuki Nishiyama, Hisato Hara, Mitsuhide Naruse, Takahiro Okamoto, Tadashi Matsuda, Shinji Kosugi, Kazuhiko Horiguchi, Akiyo Tanabe, Atsushi Watanabe, Noriko Kimura, Eijiro Nakamura, Akihiro Sakurai, Kiyoto Shiga, Kazuhiro Takekoshi
Published 2021-08-01

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility

by Sally Yepes, Nirav N. Shah, Jiwei Bai, Hela Koka, Chuzhong Li, Songbai Gui, Mary Lou McMaster, Yanzi Xiao, Kristine Jones, Mingyi Wang, Aurelie Vogt, Bin Zhu, Bin Zhu, Amy Hutchinson, Meredith Yeager, Belynda Hicks, Brian Carter, Neal D. Freedman, Laura Beane-Freeman, Stephen J. Chanock, Yazhuo Zhang, Dilys M. Parry, Xiaohong R. Yang, Alisa M. Goldstein
Published 2021-05-01

Pathogenic <i>APC</i> Variants in Latvian Familial Adenomatous Polyposis Patients

by Zanda Daneberga, Dace Berzina, Viktors Borosenko, Zita Krumina, Linda Kokaine-Sapovalova, Andris Gardovskis, Egija Berga-Svitina, Janis Gardovskis, Edvins Miklasevics
Published 2019-09-01

Natural Selection on Exonic SNPs Shapes Allelic Expression Imbalance (AEI) Adaptability in Lung Cancer Progression

by Jinfei Huang, Yuchao Zhang, Qingyang Ma, Yuhang Zhang, Meng Wang, You Zhou, Zhihao Xing, Meiling Jin, Landian Hu, Xiangyin Kong
Published 2020-06-01

Substantial batch effects in TCGA exome sequences undermine pan-cancer analysis of germline variants

by Roni Rasnic, Nadav Brandes, Or Zuk, Michal Linial
Published 2019-08-01

The Roles of Common Variation and Somatic Mutation in Cancer Pharmacogenomics

by Hiu Ting Chan, Yoon Ming Chin, Siew-Kee Low
Published 2019-01-01

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

by Christos Petridis, Iteeka Arora, Vandna Shah, Anargyros Megalios, Charlotte Moss, Anca Mera, Angela Clifford, Cheryl Gillett, Sarah E. Pinder, Ian Tomlinson, Rebecca Roylance, Michael A. Simpson, Elinor J. Sawyer
Published 2019-05-01

Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

by Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim, Radhika Gogoi, on behalf of the DiscovEHR collaboration
Published 2019-05-01

The pan-cancer landscape of prognostic germline variants in 10,582 patients

by Ajay Chatrath, Roza Przanowska, Shashi Kiran, Zhangli Su, Shekhar Saha, Briana Wilson, Takaaki Tsunematsu, Ji-Hye Ahn, Kyung Yong Lee, Teressa Paulsen, Ewelina Sobierajska, Manjari Kiran, Xiwei Tang, Tianxi Li, Pankaj Kumar, Aakrosh Ratan, Anindya Dutta
Published 2020-02-01

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review

by Dustin B. Miller, Stephen R. Piccolo
Published 2020-05-01

Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

by Yudian Qiu, Tao Xuan, Mujun Yin, Zhidong Gao, Peng Guo, Xi Chen, Yingjiang Ye, Zhanlong Shen
Published 2019-04-01

Trans-ethnic variation in germline variants of patients with renal cell carcinoma

by Sarah Abou Alaiwi, Amin H. Nassar, Elio Adib, Stefan M. Groha, Elie W. Akl, Bradley A. McGregor, Edward D. Esplin, Shan Yang, Kathryn Hatchell, Vincent Fusaro, Sarah Nielsen, David J. Kwiatkowski, Guru P. Sonpavde, Mark Pomerantz, Judy E. Garber, Matthew L. Freedman, Huma Q. Rana, Alexander Gusev, Toni K. Choueiri
Published 2021-03-01

Mutational load in carotid body tumor

by Anna V. Kudryavtseva, Elena N. Lukyanova, Dmitry V. Kalinin, Andrew R. Zaretsky, Anatoly V. Pokrovsky, Alexander L. Golovyuk, Maria S. Fedorova, Elena A. Pudova, Sergey L. Kharitonov, Vladislav S. Pavlov, Anastasiya A. Kobelyatskaya, Nataliya V. Melnikova, Alexey A. Dmitriev, Andrey P. Polyakov, Boris Y. Alekseev, Marina V. Kiseleva, Andrey D. Kaprin, George S. Krasnov, Anastasiya V. Snezhkina
Published 2019-03-01

Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer

by Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer, Marco Gallo
Published 2020-05-01

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants

by Inagaki(Kawata), Yukiko
Published 2021