{"doi":"10.2147/tacg.s245093","title":"<p>Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors</p>","abstract":"Purpose: Pediatric germ cell tumors are rare, representing about 3% of childhood malignancies in children less than 15 years of age, presenting in neonates or adolescents with a greater incidence noted in older adolescents. Aberrations in primordial germ cell proliferation/differentiation can lead to a variety of neoplasms, including teratomas, embryonal carcinoma, choriocarcinoma, and yolk sac tumors. Patients and Methods: Three Finnish families with varying familial germ cell tumors were identified, and whole-genome sequencing was performed using an Illumina sequencing platform. In total, 22 unique subjects across the three families were sequenced. Family 1 proband (female) was affected by malignant ovarian teratoma, Family 2 proband (female) was affected by sacrococcygeal teratoma with yolk sac tumor in the setting of Cornelia de Lange syndrome, and Family 3 proband (male) was affected by malignant testicular teratoma. Rare variants were identified using an autosomal recessive or de novo model of inheritance. Results: For family 1 proband (female), an autosomal recessive or de novo model of inheritance identified variants of interest in the following genes: CD109, IKBKB , and CTNNA3, SUPT6H, MUC5AC, and FRG1 . Family 2 proband (female) analysis identified gene variants of interest in the following genes: LONRF2, ANO7, HS6ST1, PRB2, and DNM2 . Family 3 proband (male) analysis identified the following potential genes: CRIPAK, KRTAP5-7 , and CACNA1B . Conclusion: Leveraging deep pedigrees and next-generation sequencing, rare germline variants were identified that were enriched in three families from Finland with a history of familial germ cell tumors. The data presented support the importance of germline mutations when analyzing complex cancers with a low somatic mutation landscape. Keywords: genomics, familial germ cell tumors, next generation sequencing, germline analysis","journal":"The Application of Clinical Genetics","year":2020,"id":108989,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9606,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":104881,"name":"Tea Soini","orcid":"0000-0002-5207-6715","position":1,"is_corresponding":false},{"id":520977,"name":"Nidhi Shah","orcid":"0000-0003-0851-8376","position":2,"is_corresponding":false},{"id":520978,"name":"Satu‐Liisa Pauniaho","orcid":"0000-0002-8212-9240","position":3,"is_corresponding":false},{"id":520979,"name":"Pekka Lahdenne","orcid":"0000-0002-3983-2897","position":4,"is_corresponding":false},{"id":520980,"name":"David B. Wilson","orcid":"0000-0002-1826-7745","position":5,"is_corresponding":false},{"id":521665,"name":"Markku Heikinheimo","orcid":null,"position":6,"is_corresponding":false},{"id":108814,"name":"Todd E. Druley","orcid":"0000-0002-3245-7561","position":7,"is_corresponding":false},{"id":499236,"name":"Erin L. Crowgey","orcid":"0000-0002-2037-0389","position":0,"is_corresponding":true}],"reference_count":35,"raw_metadata":null,"created_at":"2026-07-18T23:12:46.854423Z","pmid":"32636668","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}