title: The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report.
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.
authors.affiliation: Section of Medical Oncology, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.
authors.forename: Ami P
authors.initials: AP
authors.lastname: Jhaveri
authors.affiliation: 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.
authors.forename: Allen
authors.initials: A
authors.lastname: Bale
authors.affiliation: Cancer Genetics and Prevention Program, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.
authors.forename: Niki
authors.initials: N
authors.lastname: Lovick
authors.affiliation: Department of Surgery, Yale School of Medicine, New Haven, Connecticut.
authors.forename: Kaye
authors.initials: K
authors.lastname: Zuckerman
authors.affiliation: Section of Medical Oncology, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.
authors.forename: Hari
authors.initials: H
authors.lastname: Deshpande
authors.affiliation: Department of Obstetrics and Gynecology, Yale School of Medicine, New Haven, Connecticut.
authors.forename: Kristina
authors.initials: K
authors.lastname: Rath
authors.affiliation: Department of Obstetrics and Gynecology, Yale School of Medicine, New Haven, Connecticut.
authors.forename: Peter
authors.initials: P
authors.lastname: Schwartz
authors.affiliation: 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.
authors.forename: Erin W
authors.initials: EW
authors.lastname: Hofstatter
mesh_terms: D002648:Child; D055088:Early Detection of Cancer / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D016896:Treatment Outcome
keywords: Li-Fraumeni syndrome; TP53; cancer; cancer screening; case report; genetic counseling