Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review

Ludwig, Kandice K.; Neuner, Joan; Butler, Annabelle; Geurts, Jennifer L.; Kong, Amanda L.

doi:10.1016/j.amjsurg.2016.06.010

Cited by 188 publications

(144 citation statements)

References 39 publications

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“…8,17,18 Rebbeck et al and Meijers-Heijboer et al specifically looked at BRCA carriers undergoing either BPM or surveillance and reported significant reductions in breast cancer incidence among the BPM groups. 19,20 The PROSE study reported on 483 BRCA carriers, 105 in the BPM group and 378 in the surveillance cohort.…”

Section: Discussionmentioning

confidence: 99%

Differences Among a Modern Cohort of BRCA Mutation Carriers Choosing Bilateral Prophylactic Mastectomies Compared to Breast Surveillance

et al. 2017

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Background Women with a BRCA mutation have significantly elevated breast cancer risk which can be reduced by >90% with bilateral prophylactic mastectomies (BPMs). We sought to compare a cohort of BRCA mutation carriers choosing BPM versus breast surveillance to better elucidate factors that may impact decision making. Methods Women with a BRCA mutation were retrospectively identified from a prospectively maintained database. The surveillance cohort (n=313) consisted of women seen in a high-risk clinic between 2014–2016; the surgery cohort (n=142) consisted of women who underwent BPM between 2010–2016. Clinical and familial factors were compared between the groups. Results Women choosing BPM were more likely to have a BRCA1 than BRCA2 mutation compared to the surveillance group (57% vs 45%, p=0.02) and were less likely to have a personal history of ovarian cancer (10% vs 20%, p=0.01). Women undergoing BPM were more likely to be married (78% vs 62%, p=0.01), to have more children (median 2 vs 1, p<0.001), and to have undergone a prophylactic oophorectomy (61% vs 37%, p<0.001). Women choosing BPM had more first-degree relatives (63% vs 48%, p=0.01) or a sister (23% vs 14%, p=0.02) with a history of breast cancer and were more likely to have a family member with ovarian cancer under age 40 (9% vs 4%, p=0.03). There was no difference in the number of prior breast biopsies or history of atypia/LCIS. Conclusion The decision to undergo BPM appears multifactorial, with gene mutation, family history, and relationships appearing to have the strongest influence on decision making.

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Section: Discussionmentioning

confidence: 99%

Differences Among a Modern Cohort of BRCA Mutation Carriers Choosing Bilateral Prophylactic Mastectomies Compared to Breast Surveillance

et al. 2017

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“…In particular, for hereditary cancer syndromes, predictive testing of at‐risk relatives has been shown to provide the greatest benefit at both the individual and population levels . For example, predictive testing of families with a BRCA1 or BRCA2 mutation identifies currently asymptomatic family members and allows for intensified surveillance and/or risk‐reducing interventions, which can result in improved survival . Predictive testing can also identify relatives who have not inherited the familial mutation, saving them the burden of further investigation as BRCA1 / 2 mutation carriers.…”

Section: Introductionmentioning

confidence: 99%

“…2 For example, predictive testing of families with a BRCA1 or BRCA2 mutation identifies currently asymptomatic family members and allows for intensified surveillance and/or risk-reducing interventions, which can result in improved survival. 3,4 Predictive testing can also identify relatives who have not inherited the familial mutation, saving them the burden Shao-Tzu Li and Shirley Sun are joint first authors. of further investigation as BRCA1/2 mutation carriers.…”

Section: Introductionmentioning

confidence: 99%

Factors influencing the decision to share cancer genetic results among family members: An in‐depth interview study of women in an Asian setting

Sun

Lie

et al. 2018

Psycho-Oncology

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“…A recent systematic review showed that RRSO not only reduces the risk of OC and BC, but also provides an advantage in overall survival, ranging between 60 and 69% [11] .…”

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confidence: 99%

Evaluation of Transvaginal Ultrasound plus CA-125 Measurement and Prophylactic Salpingo-Oophorectomy in Women at Different Risk Levels of Ovarian Cancer: The Modena Study Group Cohort Study

Cortesi

Matteis²,

Toss³

et al. 2017

Oncology

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Objective: To evaluate the effectiveness of transvaginal ultrasound (TVU) and serum CA-125 measurement in women at different risk of developing ovarian cancer/fallopian tube cancer (OC/FTC) and the incidence of primary peritoneal cancer (PPC) after risk-reducing salpingo-oophorectomy (RRSO). Methods: Between 2002 and 2014, 661 women at different risk of OC/FTC/PPC due to a family history or BRCA1/2 gene mutation were offered TVU and CA-125 measurement or RRSO as prevention strategies. The detection rate of OC/FTC/PPC was evaluated, and the sensitivity and specificity for CA-125 measurement and TVU were calculated. Survival and event analysis was performed for diagnosed patients. Results: After a median follow-up of 112 months, 12 OC/FTC/PPC cases were detected (2.6/1,000 persons/year). The screening sensitivity was 70%, with 73% for BRCA carriers. Six (50%) of 12 cancers were stage I or II. Among 41 women who underwent RRSO, 2 BRCA1 carriers developed a PPC (4.9%). At 61-month follow-up, overall and event-free survival were 75 and 64%, respectively. Conclusions: The cancer detection rate in women with BRCA mutation or a strong family history supports the effectiveness of our surveillance program for early diagnosis. Screening for women at lower risk of OC/FTC is not recommended. A residual risk of PPC after RRSO remains for BRCA1 carriers.

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Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review

Cited by 188 publications

References 39 publications

Differences Among a Modern Cohort of BRCA Mutation Carriers Choosing Bilateral Prophylactic Mastectomies Compared to Breast Surveillance

Differences Among a Modern Cohort of BRCA Mutation Carriers Choosing Bilateral Prophylactic Mastectomies Compared to Breast Surveillance

Factors influencing the decision to share cancer genetic results among family members: An in‐depth interview study of women in an Asian setting

Evaluation of Transvaginal Ultrasound plus CA-125 Measurement and Prophylactic Salpingo-Oophorectomy in Women at Different Risk Levels of Ovarian Cancer: The Modena Study Group Cohort Study

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