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Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas
  1. Cassandra B Dowson1,
  2. Colin Stewart2,
  3. Sarah O'Sullivan1,3,
  4. Nicholas Pachter1,4,
  5. Lyn Schofield1 and
  6. Paul A Cohen5,6
  1. 1Genetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia
  2. 2Department of Histopathology, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia
  3. 3WOMEN Centre, West Leederville, Western Australia, Australia
  4. 4School of Medicine, University of Western Australia Faculty of Medicine Dentistry and Health Sciences, Crawley, Western Australia, Australia
  5. 5Gynaecological Oncology, St John of God Hospital Bendat Family Comprehensive Cancer Centre, Perth, Western Australia, Australia
  6. 6Division of Obstetrics & Gynaecology; Health & Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
  1. Correspondence to Ms Cassandra B Dowson, Genetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia; Cassandra.dowson{at}health.wa.gov.au

Abstract

Objective To compare the germline BRCA1 and BRCA2 mutation (gBRCA) status in women with high-grade serous tubo-ovarian and primary peritoneal carcinoma with and without serous tubal intra-epithelial carcinomas (serous tubal intra-epithelial carcinoma-positive vs serous tubal intra-epithelial carcinoma-negative).

Materials and methods A retrospective study was performed of patients in Western Australia diagnosed with high-grade serous tubo-ovarian and primary peritoneal carcinoma and referred for genetic counseling and gBRCA testing from July 1, 2014 to June 30, 2017. Histopathology reports were reviewed to ascertain whether serous tubal intra-epithelial carcinoma was present. Personal or family gBRCA status, family history, age at diagnosis, mode of treatment (neoadjuvant chemotherapy vs primary surgery), and stage were also recorded.

Results A total of 269 women with high-grade serous tubo-ovarian and primary peritoneal carcinoma were referred for genetic counseling and testing. 114 patients were excluded because the serous tubal intra-epithelial carcinoma status was not assessable or because patients did not attend for genetic assessment. 155 patients (55 serous tubal intra-epithelial carcinoma-positive and 100 serous tubal intra-epithelial carcinoma-negative) underwent genetic testing. gBRCA mutations were found in 27.8% of serous tubal intra-epithelial carcinoma-positive patients compared with 14.0% of serous tubal intra-epithelial carcinoma-negative patients (p=0.094). Of those found to have a gBRCA mutation, 89.7% reported a positive personal or family history of BRCA-related cancers.

Conclusions The gBRCA mutation detection rate in serous tubal intra-epithelial carcinoma-positive patients was nearly double that of serous tubal intra-epithelial carcinoma-negative patients. Factors such as a positive family history of BRCA-related cancers were seen at a higher proportion in the mutation positive women.

  • cystadenocarcinoma
  • serous
  • ovarian cancer
  • fallopian tube neoplasms
  • ovarian neoplasms
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Footnotes

  • Contributors CBD conceived the study, collected the data, co-wrote the first draft of the manuscript, and edited and approved the manuscript. CS edited and approved the manuscript. SO’S collected the data and edited and approved the manuscript. NP edited and approved the manuscript. LS co-wrote the first draft and edited and approved the manuscript. PAC co-wrote the first draft, analysed the data, and edited and approved the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.

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