Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Sep;55(9):571-577.
doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24.

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Jeanna M McCuaig  1   2 , Tracy L Stockley  3   4 , Patricia Shaw  5 , Michael Fung-Kee-Fung  6 , Alon D Altman  7 , James Bentley  8 , Marcus Q Bernardini  9 , Beatrice Cormier  10 , Hal Hirte  11 , Katharina Kieser  12 , Andree MacMillan  13 , Wendy S Meschino  14 , Karen Panabaker  15 , Renee Perrier  16 , Diane Provencher  10 , Kasmintan A Schrader  17 , Kimberly Serfas  18 , Eva Tomiak  19 , Nora Wong  20 , Sean S Young  21 , Walter Henri Gotlieb  22 , Paul Hoskins  23 , Raymond H Kim  24   25 ; BRCA TtoT Community of Practice
Collaborators, Affiliations
Review

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Jeanna M McCuaig et al. J Med Genet. 2018 Sep.

Abstract

The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2-related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2-associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.

Keywords: brca; genetic counselling; genetic testing; ovarian cancer.

PubMed Disclaimer

Conflict of interest statement

Competing interests: ADA, JB, WHG, KK, TLS, NW and JMM report grants from AstraZeneca. ADA and JB report grants from Pfizer. ADA reports grants from Pfizer, Array Biopharmaceutical and the Canadian partnership against cancer. ADA, JB, MQB, WHG, HH, WSM, RP, TLS, SSY and JMM report personal fees from AstraZeneca. JB and HH report personal fees from Roche. ADA reports personal fees from Sanofi.

References

    1. Canadian Cancer Society. Canadian cancer society’s advisory committee on cancer statistics, canadian cancer statistics. Toronto, ON: Canadian Cancer Society, 2017.
    1. Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol 2012;30:2654–63. 10.1200/JCO.2011.39.8545 - DOI - PMC - PubMed
    1. Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol 2011;121:353–7. 10.1016/j.ygyno.2011.01.020 - DOI - PubMed
    1. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011;108:18032–7. 10.1073/pnas.1115052108 - DOI - PMC - PubMed
    1. Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ. Detection of germline mutations in patients with epithelial ovarian cancer using multi-gene panels: beyond BRCA1/2. Cancer Res Treat 2017. 10.4143/crt.2017.220 - DOI - PMC - PubMed