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Secondary breast cancer in patients presenting with osteosarcoma: Possible involvement of germline p53 mutations

✍ Scribed by Russo, Carolyn L. ;McIntyre, James ;Goorin, Allen M. ;Link, Michael P. ;Gebhardt, Mark C. ;Friend, Stephen H.

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
714 KB
Volume
23
Category
Article
ISSN
0098-1532

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✦ Synopsis

Abstract

Second malignancies following treatment for osteosarcoma are unusual. Breast cancer occurring in patients with osteosarcoma has been reported following therapeutic chest irradiation. We now report three cases of breast cancer occurring in young women who were successfully treated for osteosarcoma. These women had not received therapeutic chest irradiation and in two of the three women there was no family history of breast cancer. Peripheral blood was available for study from one case. Of import, this case demonstrated a germline mutation in exon 7 of the tumor suppressor gene, p53. The mutation was detected by constant denaturing gradient gel electrophoresis and confirmed by DNA sequencing. In this particular patient, inactivation of the p53 gene may be involved in the development of both the first and second malignancy. © 1994 Wiley‐Liss, Inc.

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## Abstract Germline mutations in the __p53__ tumor suppressor gene have been identified in patients with Li‐Fraumeni syndrome (LFS) and patients with Li‐Fraumeni‐like syndrome (LFL). However, to date, germline __p53__ mutations in patients not fulfilling the criteria of LFS or LFL have been report