Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome. - PubMed - NCBI

Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome. - PubMed - NCBI

Am J Surg. 2019 Oct 11. pii: S0002-9610(19)30840-2. doi: 10.1016/j.amjsurg.2019.10.015. [Epub ahead of print]

Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.

Breit C1, Ablah E2, Ward M3, Okut H4, Tenofsky PL5.

Author information

1

Department of Surgery, University of Kansas School of Medicine-Wichita, Wichita, KS, USA.

2

Department of Preventive Medicine and Public Health, University of Kansas School of Medicine-Wichita, Wichita, KS, USA.

3

Ascension Via Christi Cancer Center Outreach and Risk Assessment, Wichita, KS, USA.

4

Office of Research, University of Kansas School of Medicine-Wichita, Wichita, KS, USA.

5

Department of Surgery, University of Kansas School of Medicine-Wichita, Wichita, KS, USA; Department of Surgery, Ascension Via Christi Clinic, Wichita, KS, USA. Electronic address: Patty.Tenofsky@ascension.org.

Abstract

BACKGROUND:

The majority of women who undergo genetic testing due to a significant family history of breast cancer will receive a negative result. The purpose of this study was to calculate the lifetime risk of breast cancer in women undergoing genetic counseling who received an uninformative genetic test result.

METHODS:

A retrospective chart review of mutation-negative women presenting to a cancer risk assessment clinic was performed. Lifetime risks of breast cancer were calculated using the Claus, Gail, and Tyrer-Cuzick risk assessment models.

RESULTS:

Approximately half (51%) of the women were classified as high-risk by at least one risk assessment model. The Tyrer-Cuzick model identified the highest proportion (43.2%) of patients as high-risk. Four percent (n = 4) of the sample was considered high-risk by all three models.

CONCLUSIONS:

More than half (51%) of women who underwent genetic counseling and received an uninformative negative genetic test result had a significantly elevated risk for the development of breast cancer. It is, therefore, imperative that women do not conclude that a negative genetic test result represents a lack of risk.

Copyright © 2019 Elsevier Inc. All rights reserved.

KEYWORDS:

Breast cancer risk assessment; Genetic counseling; High-risk; Negative result; Uninformative result

PMID:

 

31635794

 

DOI:

 

10.1016/j.amjsurg.2019.10.015