Genome sequencing strategies: the example of testicular cancer in a familial trio

Testicular cancer is the most common malignancy in men under the age of 50. In 1972 for the first time, the carcinoma in situ was mentioned and in particular the tumor of mixed germ cells in situ; this type of tumor, in fact, originates in the testicles but can also be found in other parts of the body. The diagnosis of these tumors involves the use of instrumental tests, usually carried out together with some laboratory tests including the determination of tumor markers; these, when increased, can be of help in indicating the presence of the disease. In recent years, there has been a sharp increase in the number of testicular cancer cases diagnosed especially in young males all over the world. Although the understanding of the molecular causes underlying this neoplasm is very limited, Next Generation Sequencing (NGS) strategies can help to shed light on complex and multifactorial pathologies such as in the case of testicular cancer. In addition, a new nucleic acid sequencing strategy is gaining ground: the third generation Oxford Nanopore Technology (ONT), which, allows to obtain a “picture” of the DNA in each individual as complete as possible, by providing very long genome sequences. The aim of this paper is to illustrate how the use of combined nucleic acid sequencing strategies has allowed to analyze the presence of mutations in a family trio where the boy (proband) was affected by testicular neoplasia. The combined sequencing of the genome and the methyloma can be of help in understanding the possible causative or predisposing mutations.