Prophylactic Surgery Decisions and Surveillance Practices One Year Following BRCA1/2 Testing

Lerman, Caryn; Hughes, Chanita; Croyle, Robert T.; Main, David; Durham, Carolyn; Snyder, Carrie; Bonney, Aba; Lynch, Jane F.; Narod, Steven A.; Lynch, Henry T.

doi:10.1006/pmed.2000.0684

Cited by 233 publications

(198 citation statements)

References 24 publications

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“…The number of carriers having BRRO (43%) in the 3 years post-genetic testing was higher than 1 year post-testing in the same cohort . This figure is comparable to rates 1 year post-test reported in the USA (Lerman et al, 2000;Scheuer et al, 2002;Botkin et al, 2003;Schwartz et al, 2003) and slightly lower than reports from the Netherlands 1 (Meijers-Heijboer et al, 2000;Lodder et al, 2002) and 5 years following testing (van Oostrom et al, 2003). For BRRM (34%) the rate is similar to the rate reported at 1 year in this cohort .…”

Section: Long-term Impact Of Brca1/2 Testing C Foster Et Alsupporting

confidence: 68%

“…For BRRM (34%) the rate is similar to the rate reported at 1 year in this cohort . The BRRM rate is higher than in the USA (Lerman et al, 2000;Scheuer et al, 2002;Botkin et al, 2003;Schwartz et al, 2003) and lower than in the Netherlands at 1 -2 years (Meijers-Heijboer et al, 2000;Lodder et al, 2002) and 5 years post-testing (van Oostrom et al, 2003).…”

Section: Long-term Impact Of Brca1/2 Testing C Foster Et Almentioning

confidence: 99%

“…In our UK cohort, 28% of carriers had bilateral risk reducing mastectomy (BRRM) and 31% oophorectomy (BRRO) in the year following predictive testing. In the USA, women are less likely to have BRRM (0 -15%) than BRRO (13 -51%) (Lerman et al, 2000;Scheuer et al, 2002;Botkin et al, 2003;Schwartz et al, 2003) whereas in the Netherlands the BRRM/ BRRO rate is around 50% for both (Meijers-Heijboer et al, 2000;Lodder et al, 2002). …”

mentioning

confidence: 99%

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Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

Foster

Watson

Eeles³

et al. 2007

Br J Cancer

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This prospective multicentre study assesses long-term impact of genetic testing for breast/ovarian cancer predisposition in a clinical cohort. Areas evaluated include risk management, distress and insurance problems 3 years post-testing. Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. One hundred and ninety-three out of 285 (70% response) participants at nine UK clinical genetics centres completed assessments at 3 years: 80% female; 37% carriers of a BRCA1/2 mutation. In the 3 years, post-genetic testing carriers reported more risk management activities than non-carriers. Fifty-five per cent of female carriers opted for risk reducing surgery; 43% oophorectomy; and 34% mastectomy. Eighty-nine per cent had mammograms compared with 47% non-carriers. Thirty-six per cent non-carriers X50 years did not have a mammogram post-test. Twenty-two per cent male carriers had colorectal and 44% prostate screening compared with 5 and 19% non-carriers respectively. Seven per cent carriers and 1% non-carriers developed cancer. Distress levels did not differ in carriers and non-carriers at 3-year follow-up. Forty per cent of female carriers reported difficulties with life and/or health insurance. Given the return to pre-test levels of concern among female non-carriers at 3 years and a substantial minority not engaging in recommended screening, there appears to be a need to help some women understand the meaning of their genetic status. A BRCA1 or BRCA2 gene mutation is associated with increased risk of breast and/or ovarian cancer (Miki et al, 1994;Wooster et al, 1995). This presents a number of challenges for the medical community, patients and their families. Female carriers of BRCA1/ 2 mutations (hereafter referred to as female carriers) are at substantially increased risk of developing breast and/or ovarian cancer (Ford et al, 1998). Male carriers of BRCA1/2 mutations (hereafter referred to as male carriers) have an increased risk of prostate (substantial for BRCA2) and bowel cancer (Ford et al, 1994). Male carriers of BRCA2 mutations are at risk of developing breast cancer (Easton et al, 1997). Genetic testing is becoming more widely available and evaluation of the long-term psychological impact and risk management strategies used are required. There are few reports on long-term consequences of BRCA1/2 testing beyond 1 year and most research focuses on women. This is the first paper to report uptake of risk management options, psychological distress and insurance problems in a large UK clinical cohort of men and women 3 years following predictive testing for BRCA1/2 mutations. Risk managementIndividuals at increased cancer risk are usually offered regular screening for early detection and/or risk reducing surgery. In the year following genetic testing, female carriers receive more cancer screening and risk-reducing surgery relative to pre-test levels and non-carriers . In our UK cohort, 28% of carriers had bilateral risk reducing mastectomy (BRRM) and 31% oophorectomy (BRRO) in the...

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Section: Long-term Impact Of Brca1/2 Testing C Foster Et Alsupporting

confidence: 68%

Section: Long-term Impact Of Brca1/2 Testing C Foster Et Almentioning

confidence: 99%

mentioning

confidence: 99%

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Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

Foster

Watson

Eeles³

et al. 2007

Br J Cancer

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“…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%

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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“…Lerman et al (2000) surveyed 216 females at risk for breast cancer (84 BRCA1/2 carriers, 83 noncarriers, and 49 test decliners). Sixty of the participating females had a prior history of breast cancer.…”

Section: Familial Breast Cancer (Brca1/2)mentioning

confidence: 99%

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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Prophylactic Surgery Decisions and Surveillance Practices One Year Following BRCA1/2 Testing

Cited by 233 publications

References 24 publications

Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

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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