Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer

Weitzel, Jeffrey N.; Lagos, Veronica I.; Cullinane, Carey A.; Gambol, Patricia J.; Culver, Julie O.; Blazer, Kathleen R.; Palomares, Melanie R.; Lowstuter, Katrina; MacDonald, Deborah J.

doi:10.1001/jama.297.23.2587

Cited by 172 publications

(95 citation statements)

References 35 publications

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“…Weitzel et al 15 reported an AUC of 0.67 for the BRCAPRO model in women with breast cancer who did not have any first-or second-degree relatives with breast or ovarian cancers. We observed a similar finding in the current cohort.…”

Section: 37mentioning

confidence: 99%

“…[5][6][7][8] Of these, the BRCAPRO model has been widely used and extensively evaluated, mostly in non-Hispanic white populations. [9][10][11][12][13][14][15][16] This model, like other carrier prediction tools, was developed on the basis of mutation rates and penetrances observed mainly in women of Ashkenazi Jewish and European ancestry. To our knowledge, no large study has evaluated the utility of the BRCAPRO…”

Section: Introductionmentioning

confidence: 99%

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Prediction ofBRCAMutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States

Huo

Senie

Daly

et al. 2009

JCO

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Purpose BRCAPRO, a BRCA mutation carrier prediction model, was developed on the basis of studies in individuals of Ashkenazi Jewish and European ancestry. We evaluated the performance of the BRCAPRO model among clinic-based minority families. We also assessed the clinical utility of mutation status of probands (the first individual tested in a family) in the recommendation of BRCA mutation testing for other at-risk family members. Patients and Methods A total of 292 minority families with at least one member who was tested for BRCA mutations were identified through the Breast Cancer Family Registry and the University of Chicago. Using the BRCAPRO model, the predicted likelihood of carrying BRCA mutations was generated. Area under the receiver operating characteristic curves (AUCs) were calculated. Results There were 104 African American, 130 Hispanic, 37 Asian-American, and 21 other minority families. The AUC was 0.748 (95% CI, 0.672 to 0.823) for all minorities combined. There was a statistically nonsignificant trend for BRCAPRO to perform better in Hispanic families than in other minority families. After taking into account the mutation status of probands, BRCAPRO performance in additional tested family members was improved: the AUC increased from 0.760 to 0.902. Conclusion The findings support the use of BRCAPRO in pretest BRCA mutation prediction among minority families in clinical settings, but there is room for improvement in ethnic groups other than Hispanics. Knowledge of the mutation status of the proband provides additional predictive value, which may guide genetic counselors in recommending BRCA testing of additional relatives when a proband has tested negative.

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Section: 37mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prediction ofBRCAMutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States

Huo

Senie

Daly

et al. 2009

JCO

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“…In a study of young patients with breast cancer, 50% of those who were found to be carriers of BRCA1/BRCA2 had no immediate family history of cancer. 18 Therefore early detection and intROdUctiOn BRCA1 and BRCA2 are the major genes known to be involved in hereditary breast and ovarian cancers. The frequency of BRCA mutations in the general population is epidemiologically estimated at 0.06 to 0.26%.…”

mentioning

confidence: 99%

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

Shkedi‐Rafid

Gabai-Kapara

Grinshpun‐Cohen

et al. 2012

Genetics in Medicine

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Purpose: BRCA genes are associated with hereditary breast and ovarian cancers. Guidelines worldwide currently recommend BRCA genetic testing in asymptomatic individuals only if they belong to "high-risk" families. However, population screening for BRCA1/2 may be the logical next step in populations with a high prevalence of founder mutations, such as Ashkenazi Jews. This study aimed to explore (i) the impact of a positive BRCA genetic test result on individuals who have neither a personal history nor a familial history of cancer and (ii) their attitudes toward the concept of population screening.methods: Semistructured in-depth interviews were carried out with 14 Ashkenazi Jewish women who were asymptomatic BRCA carriers and who belonged to families with low prevalence of cancer.Results: Three main findings emerged: (i) having no family history of cancer was a source of optimism but also confusion; (ii) engaging in intensified medical surveillance and undergoing preventive procedures was perceived as health-promoting but also tended to induce a sense of physical and psychological vulnerability; and (iii) there was overall support for BRCA population screening, with some reservations.conclusion: Women belonging to low-cancer-prevalence families within a "high-risk" ethnic community view BRCA genetic testing positively despite the difficulties entailed, because it allows prevention or early detection of cancer. However, implementing a BRCA population screening program should be carried out with proper pre-and post-testing preparation and support for the individuals undergoing testing.Genet Med 2012:14(7):688-694

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“…This might partially have taken limited family structure into account. However, limited family structure per se (24) was not examined in any of the studies.…”

Section: Family History Assessment Including Reliance On National Damentioning

confidence: 99%

Imaging surveillance programs for women at high breast cancer risk in Europe: Are women from ethnic minority groups adequately included? (Review)

Belkić

Cohen

Wilczek

et al. 2015

International Journal of Oncology

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Abstract. Women from ethnic minority groups, including immigrants and refugees are reported to have low breast cancer (BC) screening rates. Active, culturally-sensitive outreach is vital for increasing participation of these women in BC screening programs. Women at high BC risk and who belong to an ethnic minority group are of special concern. Such women could benefit from ongoing trials aimed at optimizing screening strategies for early BC detection among those at increased BC risk. Considering the marked disparities in BC survival in Europe and its enormous and dynamic ethnic diversity, these issues are extremely timely for Europe. We systematically reviewed the literature concerning European surveillance studies that had imaging in the protocol and that targeted women at high BC risk. The aim of the present review was thereby to assess the likelihood that women at high BC risk from minority ethnic groups were adequately included in these surveillance programs. Twenty-seven research groups in Europe reported on their imaging surveillance programs for women at increased BC risk. The benefit of strategies such as inclusion of magnetic resonance imaging and/or more intensive screening was clearly documented for the participating women at increased BC risk. However, none of the reports indicated that sufficient outreach was performed to ensure that women at increased BC risk from minority ethnic groups were adequately included in these surveillance programs. On the basis of this systematic review, we conclude that the specific screening needs of ethnic minority women at increased BC risk have not yet been met in Europe. Active, culturally-sensitive outreach is needed to identify minority women at increased BC risk and to facilitate their inclusion in on-going surveillance programs. It is anticipated that these efforts would be most effective if coordinated with the development of European-wide, population-based approaches to BC screening. Contents

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Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer

Cited by 172 publications

References 35 publications

Prediction ofBRCAMutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States

Prediction ofBRCAMutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

Imaging surveillance programs for women at high breast cancer risk in Europe: Are women from ethnic minority groups adequately included? (Review)

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