Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes

Jessemae L. Welsh; Tanya L. Hoskin; Courtney N. Day; Abigail S. Thomas; Jodie A. Cogswell; Fergus J. Couch; Judy C. Boughey

doi:10.1245/s10434-017-5959-3

journal article Aug 01, 2017

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes

Jessemae L. Welsh Tanya L. Hoskin Courtney N. Day Abigail S. Thomas Jodie A. Cogswell Fergus J. Couch

Judy C. Boughey

Annals of Surgical Oncology Vol. 24 No. 10 pp. 3067-3072 · Springer Science and Business Media LLC

View at Publisher Save 10.1245/s10434-017-5959-3

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References

10

[1]

Nash R, Goodman M, Lin CC, Freedman RA, Dominici LS, Ward K, Jemal A. State variation in the receipt of a contralateral prophylactic mastectomy among women who received a diagnosis of invasive unilateral early-stage breast cancer in the United States, 2004–2012. JAMA Surg. 2017. doi: 10.1001/jamasurg.2017.0115 . 10.1001/jamasurg.2017.0115

[2]

NCCN Clinical Practice Guidelines in Oncology. https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf . Accessed 30 March 2017.

[3]

Murray ML, Cerrato F, Bennett RL, Jarvik GP. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med. 2011;13(12):998-1005. 10.1097/gim.0b013e318226fc15

[4]

Chiba A, Hoskin TL, Hallberg EJ, Cogswell JA, Heins CN, Couch FJ, Boughey JC. Impact that timing of genetic mutation diagnosis has on surgical decision making and outcome for BRCA1/BRCA2 mutation carriers with breast cancer. Ann Surg Oncol. 2016;23(10):3232-8. 10.1245/s10434-016-5328-7

[5]

Hoskin TL, Hieken TJ, Degnim AC, Jakub JW, Jacobson SR, Boughey JC. Use of immediate breast reconstruction and choice for contralateral prophylactic mastectomy. Surgery. 2016;159(4):1199-209. 10.1016/j.surg.2015.11.001

[6]

Eggington JM, Bowles KR, Moyes K, et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet. 2014;86(3):229-37. 10.1111/cge.12315

[7]

Carter NJ, Hiraki S, Yackowski L, et al. Yield of pathogenic/likely pathogenic variants in breast cancer patients undergoing an inherited cancer panel based upon ethnic background. 2016; https://www.genedx.com/wp-content/uploads/2016/04/ACMG-2016-Ethnicity-and-IC-Panel-Testing-Results.pdf . Accessed 30 March 2017.

[8]

Culver JO, Brinkerhoff CD, Clague J, Yang K, Singh KE, Sand SR, Weitzel JN. Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress. Clin Genet. 2013;84(5):464-72. 10.1111/cge.12097

[9]

Richter S, Haroun I, Graham TC, Eisen A, Kiss A, Warner E. Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling. Ann Oncol. 2013;24 Suppl 8:viii69-viii74. doi: 10.1093/annonc/mdt312 . 10.1093/annonc/mdt312

[10]

Eccles BK, Copson E, Maishman T, Abraham JE, Eccles DM. Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer. 2015;15:936. 10.1186/s12885-015-1934-1

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Details

Published: Aug 01, 2017
Vol/Issue: 24(10)
Pages: 3067-3072
License: View

Authors

Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota

J

Judy C. Boughey

Cite This Article

Jessemae L. Welsh, Tanya L. Hoskin, Courtney N. Day, et al. (2017). Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes. Annals of Surgical Oncology, 24(10), 3067-3072. https://doi.org/10.1245/s10434-017-5959-3

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes

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