Germline genetic testing for breast cancer: which patients? What genes?

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References

  1. 1.

    Pal T, Agnese D, Daly M, et al. Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics. Genet Med (in press).

  2. 2.

    Berwick DM, Hackbarth AD. Eliminating waste in US care. JAMA. 2012;307:1513–1516.

  3. 3.

    U.S. Preventive Services Task Force. Screening for breast cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2009;151:716–726.

  4. 4.

    Vourtsis A, Berg WA. Breast density implications and supplemental screening. Eur Radiol. 2019;29:1762–1777.

  5. 5.

    Beitsch PD, Whitworth PW, Hughes K, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37:453–460.

  6. 6.

    Robson M, Domchek S. Broad application of multigene panel testing for breast cancer susceptibility—Pandora's box is opening wider. JAMA Oncol. 2019 Oct 3; https://doi.org/10.1001/jamaoncol.2019.4004 [Epub ahead of print].

  7. 7.

    Robson M, Im S, Senkus E, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377:523–533.

  8. 8.

    Sun L, Brentnall A, Patel S, et al. A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol. 2019 Oct 3; https://doi.org/10.1001/jamaoncol.2019.3323 [Epub ahead of print].

  9. 9.

    Saadatmand S, Geuzinge HA, Rutgers EJT, et al. MRI versus mammography for breast cancer screening in women with familial risk (FaMRsc): a multicentre, randomised, controlled trial. Lancet Oncol. 2019;20:1136–1147.

  10. 10.

    Lee AJ, Cunningham AP, Tischkowitz M, et al. Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model. Genet Med. 2016;18:1190–1198.

  11. 11.

    Loveday C, Josephs K, Chubb D, et al. p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer. J Clin Endocrinol Metab. 2018;103:4275–4282.

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Acknowledgements

I would like to thank Payal D. Shah and Katherine L. Nathanson for helpful discussions.

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Correspondence to Susan M. Domchek MD.

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Disclosure

S.M.D. has received honoraria from Clovis, Astra Zeneca, and Bristol Meyers Squibb.

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Domchek, S.M. Germline genetic testing for breast cancer: which patients? What genes?. Genet Med (2019). https://doi.org/10.1038/s41436-019-0721-9

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