Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers

Scheuer, Lauren

doi:10.1200/jco.20.5.1260

Cited by 314 publications

(183 citation statements)

References 33 publications

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“…Meijers-Heijboer et al 6 found that 50% of BRCA mutation carriers (4 of 8) who chose to undergo close surveillance rather than prophylactic mastectomy developed interval breast carcinoma; these interval malignancies were discovered 2-5 months after normal findings were noted on screening mammography. Similarly, Scheuer et al 11 reported that 6 of 12 patients (50%) developed interval breast carcinoma, which became evident 6 -10 months after normal findings were observed on screening mammography. These short periods between screening and the discovery of interval breast carcinoma suggest that annual mammography may be inadequate for screening BRCA mutation carriers.…”

Section: Discussionmentioning

confidence: 81%

The development of interval breast malignancies in patients with BRCA mutations

Komenaka

Ditkoff²,

Joseph³

et al. 2004

Cancer

146

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BACKGROUNDAt present, there is no consensus regarding how frequently BRCA mutation carriers should be screened for malignancies using breast imaging techniques. An interval malignancy is defined as a malignancy that becomes evident during the period between annual screening mammography scans; the finding of such a malignancy indicates that the malignancy either went undetected by the last breast imaging scan or developed during the interval since that last scan.METHODSThe authors retrospectively reviewed the medical charts of all BRCA mutation carriers who were followed by the genetic counselor at the Columbia‐Presbyterian Comprehensive Breast Center (New York, NY) between September 1995 and September 2002.RESULTSThirteen BRCA mutation carriers elected to undergo close surveillance and thus were followed at our institution. Three of these 13 patients (23%) did not develop breast carcinoma, 4 (31%) developed breast carcinoma that was detected at the time of annual screening, and 6 (46%) developed palpable interval malignancies in less than 12 months. Among the six patients who developed interval malignancies, the mean time between the last screening mammogram and disease presentation was 5.1 months (range, 2–9 months); the average tumor size in this patient subgroup was 1.7 cm (range, 0.8–3 cm). Two of these six patients had ductal carcinoma in situ, whereas the remaining four had invasive breast carcinoma; three patients had positive lymph nodes at presentation. All six patients who developed interval disease exhibited dense breast tissue on the previous mammogram. Focused breast ultrasonography was able to identify the tumor mass in 3 of 4 patients (75%).CONCLUSIONSNearly half of all BRCA‐positive women who chose to undergo close surveillance in the current study developed malignant disease less than a year after exhibiting normal findings on screening mammography. Half of these interval malignancies were positive for lymph node involvement. These results suggest that strong consideration should be given to screening BRCA‐positive women at more frequent intervals and to using additional imaging techniques, such as breast ultrasonography and/or breast magnetic resonance imaging, as a part of this screening. Cancer 2004. © 2004 American Cancer Society.

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Section: Discussionmentioning

confidence: 81%

The development of interval breast malignancies in patients with BRCA mutations

Komenaka

Ditkoff²,

Joseph³

et al. 2004

Cancer

146

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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%

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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“…Most of the studies concerning cancer screening after genetic testing for BRCA1/2 mutations report an increase in screening behavior, especially in carriers posttesting (Schwartz et al 2003;Lynch et al 2006;Foster et al 2007;Claes et al 2005b). In contrast to studies on HNPCC, the difference was not always significant (Scheuer et al 2002;Tinley et al 2004). Study conclusions on BRCA1/2 testing are not as clear and defined.…”

Section: Familial Breast Cancer (Brca1/2)mentioning

confidence: 91%

“…Study conclusions on BRCA1/2 testing are not as clear and defined. Behavior changes are not always statistically significant which may be explained by higher baseline compliance (Scheuer et al 2002). Interestingly, mutationnegative patients or patients with an inconclusive test result still showed adequate screening behavior and did not downshift or neglect their risk potential (Botkin et al 2003;van Dijk et al 2005).…”

Section: Familial Breast Cancer (Brca1/2)mentioning

confidence: 95%

“…In a study by Scheuer et al (2002), there was an overall increase in mean number of mammograms, clinical breast examinations, ovarian ultrasonograms, and CA125 determinations performed after genetic testing. However, the effect of genetic testing on breast cancer screening was found not to be statistically significant in the subset with prior breast cancer, which the authors attributed in part to a high incidence of baseline screening.…”

Section: Familial Breast Cancer (Brca1/2)mentioning

confidence: 99%

See 1 more Smart Citation

Patient compliance based on genetic medicine: a literature review

Schneider

Schmidtke

2013

J Community Genet

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For this literature review, medical literature data bases were searched for studies on patient compliance after genetic risk assessment. The review focused on conditions where secondary or tertiary preventive options exist, namely cancer syndromes (BRCA-related cancer, HNPCC/colon cancer), hemochromatosis, thrombophilia, smoking cessation, and obesity. As a counterpart, patient compliance was assessed regarding medication adherence and medical advice in some of the most epidemiologically important conditions (including high blood pressure, metabolic syndrome, and coronary heart disease) after receiving medical advice based on nongenetic risk information or a combination of genetic and nongenetic risk information. In the majority of studies based on genetic risk assessments, patients were confronted with predictive rather than diagnostic genetic profiles. Most of the studies started from a knowledge base around 10 years ago when DNA testing was at an early stage, limited in scope and specificity, and costly. The major result is that overall compliance of patients after receiving a high-risk estimate from genetic testing for a given condition is high. However, significant behavior change does not take place just because the analyte is "genetic." Many more factors play a role in the complex process of behavioral tuning. Without adequate counseling and guidance, patients may interpret risk estimates of predictive genetic testing with an increase in fear and anxiety.

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Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers

Abstract: This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations.

Cited by 314 publications

References 33 publications

The development of interval breast malignancies in patients with BRCA mutations

The development of interval breast malignancies in patients with BRCA mutations

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

Patient compliance based on genetic medicine: a literature review

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