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Cytogenetic and molecular analysis of a family with three brothers afflicted with germ‐cell cancer
Author(s) -
Ottesen AM,
RajpertDe Meyts E,
Holm M,
Andersen ILF,
Vogt PH,
Lundsteen C,
Skakkebæk NE
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j..2004.00180.x
Subject(s) - germ cell tumors , karyotype , biology , comparative genomic hybridization , cancer , pathology , family history , genetics , chromosome , medicine , gene , chemotherapy
A thorough cytogenetic investigation and an analysis of detailed questionnaires were performed in a family with three brothers afflicted with germ‐cell tumors (GCTs), in an attempt to detect a congenital factor related either to a hereditary genetic background or an environmental/lifestyle influence. One brother had an intracranial tumor in the pineal region and the two others had testicular tumors. Peripheral blood was studied by traditional karyotyping, multicolor‐FISH, high‐resolution comparative genomic hybridization (HR‐CGH), and molecular analysis of selected loci on sex chromosomes (Yq11 region, TSPY, and the androgen receptor gene); however, no abnormalities were detected. The HR‐CGH analysis of microdissected histological components of the overt tumors and the adjacent carcinoma in situ demonstrated a pattern of genomic imbalances characteristic for sporadic GCTs, including gain of 12p. The questionnaire and interview revealed a history of different cancers in the extended family, and a possible in utero and/or infantile exposure of the three brothers with GCTs to compounds suspected of endocrine‐disrupting properties. Although no genetic aberration was detected in this family, we suspect the presence of a recessive hereditary factor pre‐disposing to cancer, which probably was manifested as GCTs in the three brothers because of an adverse effect of an environmental factor on the early germ‐cell differentiation.