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Genetic testing for cancer susceptibility: the promise and the pitfalls

Abstract

Genetic testing for hereditary cancer risk is now available and has the potential to reduce cancer mortality through the targeting of preventive therapies and by motivating behavioural change. However, generating and communicating genetic information can have psychological and social consequences. As testing extends from identifying rare hereditary cancers to testing for common genetic variants that are associated with cancer risk, how do we address these complex problems to maximize the benefits of genetic testing?

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Figure 1: Process of genetic testing and counselling for hereditary breast and ovarian cancer.
Figure 2: Identifying genes associated with cancer.
Figure 3: Comparing uptake rates of genetic testing in families with hereditary breast and ovarian cancer or hereditary non-polyposis colon cancer.
Figure 4: Use of medical-management strategies by patients who tested positive for hereditary breast and ovarian cancer mutations.

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Acknowledgements

The authors gratefully acknowledge the valuable input of B. Peshkin and T. Rebbeck in the preparation of this manuscript. This work was supported by a grant from the National Cancer Institutes and National Institutes on Drug Abuse (C.L.) and a grant from the Robert Wood Johnson Foundation (A.E.S.)

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Correspondence to Caryn Lerman.

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DATABASES

Cancer.gov

breast cancer

ovarian cancer

LocusLink

APC

BRCA1

BRCA2

OMIM

familial adenomatous polyposis

hereditary non-polyposis colon cancer

FURTHER INFORMATION

GeneTests home page

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Lerman, C., Shields, A. Genetic testing for cancer susceptibility: the promise and the pitfalls. Nat Rev Cancer 4, 235–241 (2004). https://doi.org/10.1038/nrc1301

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