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Fanconi Anemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
FA gene mutations commonly detected in clinical cases include FANCA (60%–70% of cases), FANCC (14%), FANCG(10%), FANCD1 (BRCA2, 3%), FANCD2 (3%), FANCE (3%), FANCB (2%), FANCF (2%), FANCJ (2%), and FANCI (1%). In contrast, mutations in other FA genes (FANCL, FANCM, FANCN, FANCO, FANCP, FANCQ, FANCR, FANCT, FANCU, FANCV, and FANCW) are infrequent, and found in <1% of clinical cases [20,21].
Medulloblastoma
Published in Dongyou Liu, Tumors and Cancers, 2017
Further, a small number of medulloblastoma cases arise in the setting of hereditary cancer predisposition syndromes, including (i) Turcot syndrome (germline mutations in APC), (ii) Rubinstein–Taybi syndrome (germline mutations in CREBBP), (iii) Gorlin syndrome (germline PTCH1 and SUFU mutations), (iv) Li–Fraumeni syndrome (germline mutations in TP53), and (v) Fanconi anemia (mutations in FANCA-FANCM) [2].
Hypoxia increases mutational load of breast cancer cells through frameshift mutations
Published in OncoImmunology, 2020
Goutham Hassan Venkatesh, Pamela Bravo, Walid Shaaban Moustafa Elsayed, Francis Amirtharaj, Bartosz Wojtas, Raefa Abou Khouzam, Husam Hussein Nawafleh, Sandeep Mallya, Kapaettu Satyamoorthy, Philippe Dessen, Filippo Rosselli, Jerome Thiery, Salem Chouaib
Of the total variants identified, the number of non-synonymous mutations was less than 10% in both chronic and intermittent hypoxia treated samples across both cell lines. As the number of nonsynonymous mutations were low, it was difficult to identify the mutational signature for our data set. Oncogenic pathway analysis revealed that Ras-RTK was majorly affected in MDA-MB-231 while Hippo-signaling pathway was affected in MCF-7. As the DNA repair variants were associated with increased tumor mutational burden, we analyzed the mutations in DNA repair genes. Of the 47 mutated genes recognized for DNA damage and repair, PRDKC (DNA-dependent protein kinase) and FANCM (Fanconi Anemia Complementation Group M) were the commonly affected gene in both chronic and intermittent hypoxia (supplementary table 14).
Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2019
Le Wang, Hao Wang, Ting Wang, Jinhui Liu, Wei Chen, Yamin Wang, Chao Chen, Hongli Zhu, Penggao Dai
String 10.5 software was used to analyze the signalling pathways of the genes containing the variations (Table 6). Genes containing the BPIP1 and FANCG variations in patient 1, FANCD2, BRCA2, and FANCM variations in patient 2, and FANCL and FANCA variations in patient 3 are involved the Fanconi anaemia pathway. The MLH3 and BRCA2 genes form a network through BRCA2, while the ATM, MSH, and BRCA1 genes and Fanconi anaemia pathway form a network through BRCA1. These genes are involved in the DNA mismatch repair system. MEN1, ATM and CEBPA variations in patient 3 are involved the pathway of transcriptional misregulation in cancer. Overall, all variations were detected in genes involved in the Fanconi anaemia pathway to form a complex network system (Figure 6).
CDKN2A Depletion Causes Aneuploidy and Enhances Cell Proliferation in Non-Immortalized Normal Human Cells
Published in Cancer Investigation, 2018
Zofia Hélias-Rodzewicz, Nelson Lourenco, Mariama Bakari, Claude Capron, Jean-François Emile
Aneuploidy is a characteristic of most human cancers and is commonly detected in soft tissue sarcomas. GISTs are the most frequent sarcomas and are characterized by recurrent chromosomal imbalances, mostly involving either whole chromosomes or chromosome arms and by the low infiltration by non-tumor cells. We used HumanCNV370 Quad genotyping Bead Chips to study DNA copy number alterations and copy neutral loss from 22 GIST; this disclosed 24 regions containing 30 genes that may be involved in tumorigenesis. Within these regions, several genes may be involved in chromosome homeostasis, and some of these genes have been previously published to be implicated in the control of genome integrity (e.g., FANCM) (27). We selected five genes for further in vitro study: CHEK2, CDCA8, CCNDBP1, TP53BP1, and CDKN2A. To investigate their role in the maintenance of chromosome stability, we inhibited their expression with siRNA in two stable non-immortalized human diploid cell lines (fibroblast and multipotent adipose-derived stem cells) and analyzed chromosome content and cell proliferation.