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Yale J Biol Med. 2015 Jun 1;88(2):181-5. eCollection 2015 Jun.

The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report.

Author information

1
Section of Medical Oncology, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.
2
Cancer Genetics and Prevention Program, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut ; Department of Genetics, Yale School of Medicine, New Haven, Connecticut.
3
Cancer Genetics and Prevention Program, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.
4
Department of Surgery, Yale School of Medicine, New Haven, Connecticut.
5
Department of Obstetrics and Gynecology, Yale School of Medicine, New Haven, Connecticut.
6
Section of Medical Oncology, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut ; Cancer Genetics and Prevention Program, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.

Abstract

Li-Fraumeni syndrome is a rare cancer predisposition syndrome classically associated with remarkably early onset of cancer in families with a typical spectrum of malignancies, including sarcoma, breast cancer, brain tumors, and adrenocortical carcinoma. Because the risks of cancer development are strikingly high for Li-Fraumeni syndrome, aggressive cancer surveillance is often pursued in these individuals. However, optimal screening methods and intervals for Li-Fraumeni syndrome have yet to be determined. In addition, there may be a significant psychosocial burden to intensive cancer surveillance and some prevention modalities. Here, we describe a case of a young woman with a de novo mutation in TP53 and multiple malignancies, with her most recent cancers found at early, curable stages due to aggressive cancer screening. The potential benefits and risks of intensive cancer surveillance in hereditary cancer syndromes is discussed.

KEYWORDS:

Li-Fraumeni syndrome; TP53; cancer; cancer screening; case report; genetic counseling

PMID:
26029016
PMCID:
PMC4445439
[Indexed for MEDLINE]
Free PMC Article

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