Association of Germline Genetic Test Type and Results With Patient Cancer Worry After Diagnosis of Breast Cancer

Ward, Kevin C.; Hamilton, Ann S.; Abrahamse, Paul; Hawley, Sarah T.; Kurian, Allison W.

doi:10.1200/po.18.00225

Cited by 9 publications

(13 citation statements)

References 9 publications

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“…These results are consistent with the COGENT study, a multicenter randomized trial of phone compared to in‐person disclosure of germline genetic test results, which included patients undergoing MGPT, the RESPECT study, a study evaluating the uptake and outcomes of returning MGPT research results to research participants, and a recently published study in breast cancer patients focused on cancer worry exclusively . While we found greater increase in uncertainty among patients undergoing MGPT as compared to targeted testing in the COGENT study, longitudinal data from the COGENT study and these data reveal declines in uncertainty over time .…”

Section: Discussionsupporting

confidence: 86%

“…In this study, patients with a VUS result had increases in cancer‐specific distress and depression at 6 and 12 months, despite corresponding declines in uncertainty. This is in contrast to the COGENT study where there were no significant differences in this outcome among those with a VUS, and Katz et al who found no impact of test result on cancer worry after MGPT in breast cancer patients . Given conflicting data and different measures and populations across the studies to date, continued evaluation of outcomes by test result, including both those with a positive and VUS result, and in representative clinical populations remains important.…”

Section: Discussionmentioning

confidence: 82%

“…There are relatively few studies reporting patient reported cognitive, affective and behavioral outcomes of clinical incorporation of MGPT . In addition, it is not well described how many individuals with prior negative testing for BRCA1/2 are interested in further testing.…”

Section: Introductionmentioning

confidence: 99%

“…[10][11][12][13][14] There are relatively few studies reporting patient reported cognitive, affective and behavioral outcomes of clinical incorporation of MGPT. 2,3,[15][16][17] In addition, it is not well described how many individuals with prior negative testing for BRCA1/2 are interested in further testing. In the multiplex testing for evaluation of breast cancer risk (METEOR) study, we sought to evaluate patients' interest in MGPT among BRCA1/2 negative patients.…”

mentioning

confidence: 99%

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Longitudinal outcomes with cancer multigene panel testing in previously testedBRCA1/2negative patients

et al. 2020

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Although multigene panel testing (MGPT) is increasingly utilized in clinical practice, there remain limited data on patient‐reported outcomes. BRCA 1/2 negative patients were contacted and offered MGPT. Patients completed pre‐ and posttest counseling, and surveys assessing cognitive, affective and behavioral outcomes at baseline, postdisclosure and 6 and 12 months. Of 317 eligible BRCA1/2 negative patients who discussed the study with research staff, 249 (79%) enrolled. Decliners were more likely to be older, non‐White, and recruited by mail or email. Ninety‐five percent of enrolled patients proceeded with MGPT. There were no significant changes in anxiety, depression, cancer specific distress or uncertainty postdisclosure. There were significant but small increases in knowledge, cancer‐specific distress and depression at 6‐12 months. Uncertainty declined over time. Those with a VUS had significant decreases in uncertainty but also small increases in cancer specific distress at 6 and 12 months. Among those with a positive result, medical management recommendations changed in 26% of cases and 2.6% of all tested. Most BRCA1/2 negative patients have favorable psychosocial outcomes after receipt of MGPT results, although small increases in depression and cancer‐specific worry may exist and may vary by result. Medical management changed in few patients.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Longitudinal outcomes with cancer multigene panel testing in previously testedBRCA1/2negative patients

et al. 2020

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“…This is consistent with our prior work showing no increase in cancer-related worry associated with testing more genes. 27 Our study is one of the first to demonstrate that moderate-risk PV carriers experience results similarly to those with a high-risk PV without higher levels of uncertainty. The high-and moderate-risk PV groups did not differ significantly in total or subset MICRA scores; this is contrary to our stated hypothesis that moderate-risk carriers would have higher uncertainty than high-risk carriers.…”

Section: Discussionmentioning

confidence: 59%

Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients

Culver

Ricker

Bonner

et al. 2020

Cancer

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BACKGROUND:Little is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with moderate-risk pathogenic variants (PVs). METHODS: Study participants (N = 1264) were counseled and tested with a 25-or 28-gene panel and completed a 3-month postresult survey including the Multidimensional Impact of Cancer Risk Assessment (MICRA). RESULTS: The mean age was 52 years, 80% were female, and 70% had cancer; 45% were non-Hispanic White, 37% were Hispanic, 10% were Asian, 3% were Black, and 5% had another race/ethnicity. Approximately 28% had a high school education or less, and 23% were non-English-speaking. The genetic test results were as follows: 7% had a high-risk PV, 6% had a moderate-risk PV, 35% had a variant of uncertain significance (VUS), and 52% were negative. Most participants (92%) had a total MICRA score ≤ 38, which corresponded to a mean response of "never," "rarely," or only "sometimes" reacting negatively to results. A multivariate analysis found that mean total MICRA scores were significantly higher (more uncertainty/distress) among high-and moderate-risk PV carriers (29.7 and 24.8, respectively) than those with a VUS or negative results (17.4 and 16.1, respectively). Having cancer or less education was associated with a significantly higher total MICRA score; race/ethnicity was not associated with the total MICRA score. High-and moderate-risk PV carriers did not differ significantly from one another in the total MICRA score, uncertainty, distress, or positive experiences. CONCLUSIONS: In a diverse population undergoing genetic counseling and multigene panel testing for hereditary cancer risk, the psychological response corresponded to test results and showed low distress and uncertainty. Further studies are needed to assess patient understanding and subsequent cancer screening among patients from diverse backgrounds.

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Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2

2018

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To the Editor Walsh et al 1 present data on 1007 Jewish women with breast cancer who were sequenced for 23 candidate genes. There were 111 carriers of a BRCA1 or BRCA2 mutation identified, 29 carriers of a CHEK2 mutation, 1 carrier of an NBN mutation, and 1 carrier of a BRIP1 mutation. The authors use these data to support their position that use of a 23-gene panel is preferable to testing for BRCA1 and BRCA2 alone. We look at the same data and conclude that testing should be limited to BRCA1 and BRCA2.The claim in the abstract that all the patients' mutations were "responsible for their disease" is not warranted. First, the only established pathogenic mutation in NBN is 675del5 and the cancer risk for carriers of this mutation is modified by the background genotype (B. Rusak, MD, W. Kluznak, MD, D. Wokolorczyk, PhD, et al, Polish Hereditary Breast and Prostate Cancer Consortium, unpublished data, February 2018). The NBN mutation presented by Walsh et al 1 (but not discussed) is probably not pathogenic, and to counsel a family member otherwise is problematic. Second, 1 BRIP1 truncating mutation was reported; however, a recent collaborative study of more than 100 000 persons found no evidence for an association between BRIP1 truncating variants and breast cancer risk. 2 Third, 24 women carried a CHEK2 founder allele (S428F). The odds ratio for this allele (2.13) is based on a single report. 3 Based on a 2-fold risk, it is not obvious that any specific case of breast cancer is the consequence of the genetic mutation (half would not be). Women at 2-fold risk are not candidates for mastectomy and are unlikely to take tamoxifen, and there are no empirical data that disclosing moderate risk is effective policy. Counseling for CHEK2 mutations is difficult. 4 We have a recent example in which the proband with breast cancer had a mutation and this variant was present in the daughter. After the daughter was counseled to be at high risk, her affected sister was tested and found to be negative for CHEK2 mutation.In cancer families, the number of BRCA mutations will greatly outnumber the CHEK2 mutations. In the general population, CHEK2 mutations greatly outnumber BRCA mutations. 5 If population-based testing is enacted, the majority of our counseling time will be devoted to women with low-penetrant CHEK2 alleles.In summary, we argue against replacing a 2-gene test for Jewish women with a 23-gene panel and we believe that to do so will lead to unnecessary worry and unwarranted interventions and will not lessen the cancer burden. We agree that testing Jewish women for BRCA1 and BRCA2 should include scanning the entire sequence of BRCA1 and BRCA2 for mutations and should no longer be restricted to founder mutations. We have already adopted this practice in Canada.

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Association of Germline Genetic Test Type and Results With Patient Cancer Worry After Diagnosis of Breast Cancer

Cited by 9 publications

References 9 publications

Longitudinal outcomes with cancer multigene panel testing in previously testedBRCA1/2negative patients

Longitudinal outcomes with cancer multigene panel testing in previously testedBRCA1/2negative patients

Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients

Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2

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