Early detection of breast and ovarian cancer in families with BRCA mutations

Vasen, Hans F. A.; Tesfay, Ephrem Baraki; Boonstra, H.; Mourits, Marian J.E.; Rutgers, Emiel J. T.; Verheyen, R.; Oosterwijk, Jan C.; Beex, L.V.A.M.

doi:10.1016/j.ejca.2004.10.029

Cited by 66 publications

(39 citation statements)

References 20 publications

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“…Although efficacy of BPSO has been demonstrated (Rebbeck et al, 2005), the efficacy of gynaecological screening with (bi) annual transvaginal ultrasonography (TVU) and the serum tumour marker CA125 (Karlan et al, 1993;Burke et al, 1997) is still unclear. To summarize the literature on gynaecological screening of BRCA1/2 carriers, including overlap with the present study, eight interval cancers among 24 cancers were diagnosed among a total of 807 BRCA1/2 carriers (Table 1) (Laframboise et al, 2002;Liede et al, 2002;Scheuer et al, 2002;Fries et al, 2004;Kauff et al, 2005;Meeuwissen et al, 2005;Vasen et al, 2005;Gaarenstroom et al, 2006;Oei et al, 2006). Regretfully, most studies did not distinguish between prevalent and incident cases.…”

mentioning

confidence: 79%

“…Thus, although we could not formally test efficacy with mortality as outcome, it is unlikely that annual gynaecological screening will reduce mortality of ovarian cancer in BRCA1/2 carriers. Reported compliance of high-risk women to gynaecological screening proved to vary extremely among studies (Lerman et al, 2000;Scheuer et al, 2002;Botkin et al, 2003;Vasen et al, 2005). This may result from differences in definition of compliance, differences in the requested frequency of screening visits and differences in risk perception of the women and their physicians (Tinley et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

“…In evaluating efficacy of screening, several factors hamper the comparison among various studies, (1) compliance to the intended screening procedure has not been examined in combination with efficacy, (2) generally, no distinction is made between prevalent and incident screen-detected cases, (3) the screening protocol may differ, such as the frequency of screening, the cutoff level of CA125 (15 -35 U ml À1 ) (Bourne et al, 1994;Jacobs et al, 1999;Kauff et al, 2005;Meeuwissen et al, 2005;Olivier et al, 2006), and the combined or sequential order of applying the screening tools (Jacobs et al, 1999;Scheuer et al, 2002;Meeuwissen et al, 2005;Stirling et al, 2005;Olivier et al, 2006), and (4) quality measures of screening tools, like sensitivity, are typically reported including occult tumours, while the proportion of women opting for a BP(S)O differs strongly across various countries (Wainburg and Husted, 2004). Consequently, the proportion of interval cancers detected during screening varies among studies from 5/7 ¼ 71% in the study by Liede et al (2002), 1/3 ¼ 33% in the study by Scheuer et al (2002) and 1/6 ¼ 17% in the study by Vasen et al (2005) ( Table 1). In our study, the proportion of interval cancers was 5/15 ¼ 33% including the prevalent screen-detected cases and 5/10 ¼ 50% excluding the prevalent cases.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2007

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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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confidence: 79%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

et al. 2007

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“…This complicates comparisons between the different groups. See Table 6 for an overview of the most recent surveillance studies of high-risk women (TVU, CA-125 with (Dorum et al, 1999;Meeuwissen et al, 2005;Vasen et al, 2005) or without pelvic examination Laframboise et al, 2002;Scheuer et al, 2002;Stirling et al, 2005). Some studies report detection of advanced stage ovarian cancer, while a disappointing low number of patients appeared to have early stage cancer.…”

Section: Discussionmentioning

confidence: 99%

Surveillance of women at high risk for hereditary ovarian cancer is inefficient

et al. 2006

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To determine the effectiveness of annual gynaecological screening (pelvic examination, transvaginal ultrasound, and CA-125), a prospective cohort study of women at high risk for hereditary ovarian cancer was conducted. Women were offered DNA analysis followed by either annual screening or prophylactic bilateral salpingo-oophorectomy (BSO). Study population consisted of 512 highrisk women (median follow-up 2.07 years, range 0 -9.4 years): 265 women (52%) had a BRCA mutation. Persisting abnormalities indicated diagnostic surgery in 24 women resulting in one primary ovarian cancer FIGO stage IIIc was found. The effectiveness of screening was studied by calculating the probability of finding ovarian cancers in the BRCA-1 and BRCA-2 carrier group and comparing this to the identified number of ovarian cancers. The number of ovarian cancer patients found at surveillance was in accordance with the predicted number of ovarian cancers. A total number of 169 women underwent prophylactic BSO: one ovarian cancer stage IIb was found. In conclusion, the surveillance programme for hereditary ovarian cancer does identify patients with ovarian cancer but is very inefficient considering the high number of surveillance visits and the advanced stage of ovarian cancer in the identified patient. For prevention of advanced stage ovarian cancer, prophylactic BSO from age 35 -40 years is a more efficient alternative.

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“…Mammography (mg) is traditionally offered-a strategy that has been shown to reduce mortality from breast cancer in women aged 50-74 years [20][21][22] . However, several observational studies have shown that the overall sensitivity of mg in women with inherited BRCA mutations is low, and the rate of interval cancers is as high as 48%-55% 11,23,24 . In addition, women diagnosed with breast cancer between the ages of 20 and 39 years-an age group with a proportionately high germline mutation rate-have lower survival ratios compared with older age groups 25 .…”

Section: Introductionmentioning

confidence: 99%

Multimodality Breast Cancer Screening in Women with a Familial or Genetic Predisposition

et al. 2010

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BackgroundWomen with a predisposition for breast cancer require a tailored screening program for early cancer detection. We evaluated the performance of mammography (mg), ultrasonography (us), and magnetic resonance imaging (mri) screening in these women. Patients and MethodsIn asymptomatic women either confirmed as BRCA1/2 carriers, or having a greater than 30% probability of being so as estimated by brcapro [Berry D, Parmigiani G. Duke spore (Specialized Program of Research Excellence) in Breast Cancer. 1999], we conducted a prospective comparative trial consisting of annual mri and mg, and biannual us and clinical breast examination. All evaluations were done within 30 days of one another. For each screening round, imaging tests were independently interpreted by three radiologists. ResultsThe study enrolled 184 women, and 387 screening rounds were performed, detecting 12 cancers (9 infiltrating, 3 in situ), for an overall cancer yield of 6.5%. At diagnosis, 7 infiltrating cancers were smaller than 2 cm (T1); only 1 woman presented with axillary nodal metastases. All tumours were negative for the human epidermal growth factor receptor 2. Of the 12 cancers, mri detected 10, and mg, 7; us did not identify any additional cancers. The overall recall rate after mri was 21.8%, as compared with 11.4% for us and 16.1% for mg. Recall rates declined with successive screening rounds. In total, 45 biopsies were performed: 21 as a result of an us abnormality; 17, because of an mri lesion; and 7, because of a mg anomaly. InterpretationIn high-risk women, mri offers the best sensitivity for breast cancer screening. The combination of yearly mri and mg reached a negative predictive value of 100%. The recall rate is greatest with mri, but declines for all modalities with successive screening rounds.

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Early detection of breast and ovarian cancer in families with BRCA mutations

Cited by 66 publications

References 20 publications

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

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

Surveillance of women at high risk for hereditary ovarian cancer is inefficient

Multimodality Breast Cancer Screening in Women with a Familial or Genetic Predisposition

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