Article
Endocrinology & Metabolism
Rachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, Carlos Benbassat, Uri Yoel, Avraham Ishay, Sagit Zolotov, Gideon Bachar, Ehud Banne, Sigal Levy, Orit Twito
Summary: This study analyzed the gene mutations in Israeli MTC patients and found that Cys618Arg mutation was the most common. The Cys618Arg group, which was associated with a specific Jewish Moroccan family, had smaller tumors and lower calcitonin levels compared to the Cys634Arg/Thr/Tyr group. However, the long-term outcomes of MTC were similar between the two groups.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Lingdi Yin, Jishu Wei, Zipeng Lu, Shimeng Huang, Hao Gao, Jianmin Chen, Feng Guo, Min Tu, Bin Xiao, Chunhua Xi, Kai Zhang, Qiang Li, Junli Wu, Wentao Gao, Kuirong Jiang, Jun Yu, Yi Miao
Summary: A higher incidence of pancreatic cancer has been reported in the Chinese population compared with the White population, and genetic background of pancreatic cancer in the Han Chinese population with PDAC was explored in this study, revealing a significant association between pathogenic germline variations and sporadic pancreatic cancer in China.
Article
Oncology
Evan M. M. Braunstein, Eddie Imada, Sergiu Pasca, Shiyu Wang, Hang Chen, Camille Alba, Dan N. N. Hupalo, Matthew Wilkerson, Clifton L. L. Dalgard, Jack Ghannam, Yujia Liu, Luigi Marchionni, Alison Moliterno, Christopher S. S. Hourigan, Lukasz P. P. Gondek
Summary: Genetic predisposition to myeloproliferative neoplasms (MPNs) is more common than in most other cancers. This study identified an ATM L2307F single nucleotide variant (SNV) occurring in nearly 8% of individuals with familial MPN, suggesting a link between ATM and MPN predisposition. Structural protein modeling of this variant indicated the stabilization of inactive ATM dimer and alteration of downstream tumor suppressor CHEK2 phosphorylation.
Article
Oncology
Romy Mondschein, Damien Bolton, David Clouston, James Dowty, Liam Kavanagh, Declan Murphy, Prudence Scott, Renea A. Taylor, Heather Thorne
Summary: This study identified germline mutations associated with prostate cancer development and their correlation with prostate cancer characteristics. Mutations in ATM and CHEK2 genes were associated with aggressive prostate cancer. Further research is needed to confirm the prevalence and impact of these germline mutations in prostate cancer.
Article
Hematology
Miriam Elbracht, Robert Meyer, Kim Kricheldorf, Deniz Gezer, Thomas Eggermann, Beate Betz, Ingo Kurth, Lino L. Teichmann, Tim H. Bruemmendorf, Ulrich Germing, Susanne Isfort, Steffen Koschmieder
Summary: The study identified germline mutations in MPNs patients, suggesting a higher risk of leukemia; the discovery of hereditary tumor predisposition is crucial for therapeutic options and preventive care for individuals with MPNs in their families.
Article
Multidisciplinary Sciences
Stephanie U. Greer, Jiamin Chen, Margret H. Ogmundsdottir, Carlos Ayala, Billy T. Lau, Richard Glenn C. Delacruz, Imelda T. Sandoval, Sigrun Kristjansdottir, David A. Jones, Derrick S. Haslem, Robin Romero, Gail Fulde, John M. Bell, Jon G. Jonasson, Eirikur Steingrimsson, Hanlee P. Ji, Lincoln D. Nadauld
Summary: This article investigates the role of autophagy related gene ATG7 in cholangiocarcinoma. The study finds that germline variants and somatic deletions of ATG7 are associated with the development of cholangiocarcinoma, and these variants impact the function of autophagy.
SCIENTIFIC REPORTS
(2022)
Article
Oncology
Owen J. Chen, Ester Castellsague, Mohamed Moustafa-Kamal, Javad Nadaf, Barbara Rivera, Somayyeh Fahiminiya, Yilin Wang, Isabelle Gamache, Caterina Pacifico, Lai Jiang, Jian Carrot-Zhang, Leora Witkowski, Albert M. Berghuis, Stefan Schoenberger, Dominik Schneider, Morten Hillmer, Susanne Bens, Reiner Siebert, Colin J. R. Stewart, Ziguo Zhang, William C. H. Chao, Celia M. T. Greenwood, David Barford, Marc Tischkowitz, Jacek Majewski, William D. Foulkes, Jose G. Teodoro
Summary: Two germline CDC20 missense variants that segregate with cancer in two families compromise the spindle assembly checkpoint and lead to aberrant mitotic progression, which could predispose cells to transformation.
Article
Medicine, Research & Experimental
Pingping Xu, Danfeng Sun, Yaqi Gao, Yi Jiang, Ming Zhong, Gang Zhao, Jinxian Chen, Zheng Wang, Qiang Liu, Jie Hong, Haoyan Chen, Ying-Xuan Chen, Jing-Yuan Fang
Summary: Through whole-exome sequencing, we identified mutations in genes related to the Fanconi anemia DNA repair pathway in familial colorectal cancer patients, including CHEK2. Further experiments showed that CHEK2 plays a crucial role in cell cycle and DNA damage repair processes.
Article
Medicine, General & Internal
Geoffrey Y. Ku, Yelena Kemel, Steve B. Maron, Joanne F. Chou, Vignesh Ravichandran, Zarina Shameer, Anna Maio, Elizabeth S. Won, David P. Kelsen, David H. Ilson, Marinela Capanu, Vivian E. Strong, Daniela Molena, Smita Sihag, David R. Jones, Daniel G. Coit, Yaelle Tuvy, Kendall Cowie, David B. Solit, Nikolaus Schultz, Jaclyn F. Hechtman, Kenneth Offit, Vijai Joseph, Diana Mandelker, Yelena Y. Janjigian, Zsofia K. Stadler
Summary: The study revealed a higher prevalence of pathogenic germline alterations in patients with esophagogastric cancer, particularly in gastric cancer and early-onset cases. This suggests the importance of genetic testing in these populations for identifying potential hereditary cancer syndromes.
Article
Oncology
Zsofia K. Stadler, Anna Maio, Debyani Chakravarty, Yelena Kemel, Margaret Sheehan, Erin Salo-Mullen, Kaitlyn Tkachuk, Christopher J. Fong, Bastien Nguyen, Amanda Erakky, Karen Cadoo, Ying Liu, Maria Carlo, Alicia Latham, Hongxin Zhang, Ritika Kundra, Shaleigh Smith, Jesse Galle, Carol Aghajanian, Nadeem Abu-Rustum, Anna Varghese, Eileen M. O'Reilly, Michael Morris, Wassim Abida, Michael Walsh, Alexander Drilon, Gowtham Jayakumaran, Ahmet Zehir, Marc Ladanyi, Ozge Ceyhan-Birsoy, David B. Solit, Nikolaus Schultz, Michael F. Berger, Diana Mandelker, Luis A. Diaz, Kenneth Offit, Mark E. Robson
Summary: Tumor mutational profiling is common in advanced cancer patients. This study showed that 17% of patients had a germline likely pathogenic or pathogenic variant, with 40% of them receiving germline genotype-directed treatment.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Oncology
Ning Xiao, Xiaoqing Cao, Zhidong Liu, Yi Han
Summary: In this study, whole-genome sequencing was used to identify PLEKHM2 (D134N) and MCC (R448Q) as potential driver mutations in a family with suspected inherited lung cancer. Additionally, the presence of these mutations in non-lung cancer carriers was investigated, suggesting the importance of genetic screening in preventing and controlling lung cancer.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Review
Oncology
Antonio Cioffi, Ottavio De Cobelli, Paolo Veronesi, Carlo La Vecchia, Patrick Maisonneuve, Giovanni Corso
Summary: This systematic review and meta-analysis found that germline BRCA1 variants are more prevalent in Ashkenazi Jewish men with prostate cancer, while BRCA2 variants show a similar distribution between Ashkenazi and non-Ashkenazi populations. This suggests that genetic screening for prostate cancer in Ashkenazi men should not be limited to the BRCA2 gene.
Article
Cell Biology
Yi Chen, Yang Zhang, Zhihua Wang, Yewei Wang, Yujiao Luo, Nannan Sun, Shasha Zheng, Wenzhe Yan, Xiang Xiao, Sufang Liu, Ji Li, Hongling Peng, Yunxiao Xu, Guoyu Hu, Zhao Cheng, Guangsen Zhang
Summary: In this study, we investigated the clinical and hematological features of three genetically related families predisposed to myeloproliferative neoplasms (MPNs). We identified a mutation in the CHST15 gene, which resulted in increased JAK2V617F allele burden and upregulated p-Stat3 activity, leading to increased proliferative and prodifferentiation potential of transgenic cells.
CELL DEATH & DISEASE
(2022)
Review
Oncology
David K. Doan, Keith T. Schmidt, Cindy H. Chau, William D. Figg
Summary: Advancements in understanding the molecular basis of prostate cancer have led to the identification of germline variants in some patients, increasing their risk of disease. Precision oncology aims to tailor treatments based on genetic characteristics, with genomic-driven therapies playing a key role in managing advanced prostate cancer. The presence of germline mutations has significant implications for hereditary cancer risks, patient management, and treatment strategies in prostate cancer.
Article
Oncology
Junlong Wu, Yu Wei, Jian Pan, Shengming Jin, Weijie Gu, Hualei Gan, Yao Zhu, Ding-Wei Ye
Summary: This study provides a comprehensive view of germline DDR gene mutations in PCa patients and identifies two potential PCa predisposition genes, POLN and POLG, not previously reported in the Western population, highlighting the necessity of customizing a multigene panel for Chinese PCa patients.
INTERNATIONAL JOURNAL OF CANCER
(2021)