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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome

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Author(s):
Basso, Tatiane R. [1] ; Villacis, Rolando A. R. [1] ; Canto, Luisa M. [1] ; Alves, Vinicius M. F. [1] ; Lapa, Rainer M. L. [2] ; Nobrega, Amanda F. [3] ; Achatz, Maria I. [3] ; Rogatto, Silvia R. [1, 2]
Total Authors: 8
Affiliation:
[1] AC Camargo Canc Ctr, Int Res Ctr CIPE, Sao Paulo - Brazil
[2] Sao Paulo State Univ UNESP, Fac Med, Dept Urol, Botucatu, SP - Brazil
[3] AC Camargo Canc Ctr, Dept Oncogenet, Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: CANCER GENETICS; v. 208, n. 6, p. 341-344, JUN 2015.
Web of Science Citations: 2
Abstract

Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare. Herein, we describe a patient with a 45,X/46,XX karyotype with no classic phenotype of TS. She presented with a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), showing papillary thyroid carcinoma and fibrosarcoma of the left flank, and had no TP53 germline mutations. Genome-wide analysis of copy number variations (CNVs) was assessed in DNA from peripheral blood cells and saliva. A total of 109 rare CNVs in the blood cells, including mosaic loss of the X chromosome (76% of cells), were identified. In saliva, three rare CNVs were detected, all of them were also detected in the blood cells: loss of 8q24.11 (EXT1), gain of 16q24.3 (PRDM7 and GASS), and the mosaic loss of the X chromosome (50% of cells). Results of conventional G-banding confirmed the 45,X/46,XX karyotype. Surprisingly, the patient presented with an apparently normal phenotype. The PROM and GAS8 genes are potential candidates to be associated with the risk of developing cancer in this LF/TS patient. (AU)

FAPESP's process: 08/57887-9 - National Institute of Oncogenomics
Grantee:Luiz Paulo Kowalski
Support Opportunities: Research Projects - Thematic Grants