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. 2007 May 7;96(9):1335-42.
doi: 10.1038/sj.bjc.6603725. Epub 2007 Apr 10.

No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study

B B J Hermsen  1 , R I Olivier, R H M Verheijen, M van Beurden, J A de Hullu, L F Massuger, C W Burger, C T Brekelmans, M J Mourits, G H de Bock, K N Gaarenstroom, H H van Boven, T M Mooij, M A Rookus
Affiliations

No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study

B B J Hermsen et al. Br J Cancer. .

Abstract

BRCA1/2 mutation carriers are offered gynaecological screening with the intention to reduce mortality by detecting ovarian cancer at an early stage. We examined compliance and efficacy of gynaecological screening in BRCA1/2 mutation carriers. In this multicentre, observational, follow-up study we examined medical record data of a consecutive series of 888 BRCA1/2 mutation carriers who started annual screening with transvaginal ultrasonography and serum CA125 between 1993 and 2005. The women were annually screened for 75% of their total period of follow-up. Compliance decreased with longer follow-up. Five of the 10 incident cancers were interval tumours, diagnosed in women with a normal screening result within 3-10 months before diagnosis. No difference in stage distribution between incident screen-detected and interval tumours was found. Eight of the 10 incident cancers were stage III/IV (80%). Cancers diagnosed in unscreened family members had a similar stage distribution (77% in stage III/IV). The observed number of cases detected during screening was not significantly higher than expected (Standardized Incidence Ratio (SIR): 1.5, 95% confidence interval: 0.7-2.8). For the subgroup that was fully compliant to annual screening, a similar SIR was found (1.6, 95% confidence interval: 0.5-3.6). Despite annual gynaecological screening, a high proportion of ovarian cancers in BRCA1/2 carriers are interval cancers and the large majority of all cancers are diagnosed in advanced stages. Therefore, it is unlikely that annual screening will reduce mortality from ovarian cancer in BRCA1/2 mutation carriers.

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Figures

Figure 1
Figure 1
Age distribution at first visit of 683 BRCA1 mutation carriers compared with 200 BRCA2 mutation carriers.
Figure 2
Figure 2
Flow diagram of the screening process. * Eight women had extra visits during follow-up. **One woman underwent diagnostic operation twice.
Figure 3
Figure 3
CA125 levels of women with ovarian cancer detected at regular screening visits (nos. 12, 13 and 15) or detected in between two visits (i.e. interval ovarian cancer cases; 6 and 10); numbers of cases consistent with Table 4.
See this image and copyright information in PMC

References

    1. Andriole GL, Reding D, Hayes RB, Prorok PC, Gohagan JK (2004) The prostate, lung, colon, and ovarian (PLCO) cancer screening trial: status and promise. Urol Oncol 22(4): 358–361 - PubMed
    1. Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 83(10): 1301–1308 - PMC - PubMed
    1. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5): 1117–1130 - PMC - PubMed
    1. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86(1): 76–83 - PMC - PubMed
    1. Antoniou AC, Pharoah PDP, Easton DF, on behalf of the Boadicea Collaborators (2004) The BOADICEA model of genetic susceptibility to breast and ovarian cancer: updating and validation. Annual Meeting of the American Society of Human Genetics poster abstract 555

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