Validation of a tool for identifying women at high risk for hereditary breast cancer in population‐based screening

Hoskins, Kent; Zwaagstra, Alice; Ranz, Michael

doi:10.1002/cncr.22202

Cited by 85 publications

(76 citation statements)

References 75 publications

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“…The risk categorization task consists of 12 scenarios profiling women with varying degrees of genetic risk of breast cancer. The Pedigree Assessment Tool (PAT; Hoskins, Zwaagstra, & Ranz, 2006) was used to create scenarios representing women of high risk, medium risk, and no risk (meaning no increase beyond the base rate). Participants read each scenario and then had to categorize each woman on the basis of which risk category she belongs in.…”

Section: Methodsmentioning

confidence: 99%

Tutorial dialogues and gist explanations of genetic breast cancer risk

et al. 2015

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The intelligent tutoring system (ITS) BRCA Gist is a Web-based tutor developed using the Shareable Knowledge Objects (SKO) platform that uses latent semantic analysis to engage women in natural-language dialogues to teach about breast cancer risk. BRCA Gist appears to be the first ITS designed to assist patients' health decision making. Two studies provide fine-grained analyses of the verbal interactions between BRCA Gist and women responding to five questions pertaining to breast cancer and genetic risk. We examined how Bgist explanations^generated by participants during naturallanguage dialogues related to outcomes. Using reliable rubrics, scripts of the participants' verbal interactions with BRCA Gist were rated for content and for the appropriateness of the tutor's responses. Human researchers' scores for the content covered by the participants were strongly correlated with the coverage scores generated by BRCA Gist, indicating that BRCA Gist accurately assesses the extent to which people respond appropriately. In Study 1, participants' performance during the dialogues was consistently associated with learning outcomes about breast cancer risk. Study 2 was a field study with a more diverse population. Participants with an undergraduate degree or less education who were randomly assigned to BRCA Gist scored higher on tests of knowledge than those assigned to the National Cancer Institute website or than a control group. We replicated findings that the more expected content that participants included in their gist explanations, the better they performed on outcome measures. As fuzzy-trace theory suggests, encouraging people to develop and elaborate upon gist explanations appears to improve learning, comprehension, and decision making.

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Section: Methodsmentioning

confidence: 99%

Tutorial dialogues and gist explanations of genetic breast cancer risk

et al. 2015

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“…However, the Gail and Claus models do not account for several features that indicate increased risk for hereditary BC and may fail to identify women at risk for hereditary breast or ovarian cancer and non-BRCA hereditary syndromes. 17 Therefore, the BRS tool also includes the pedigree assessment tool (PAT), 25,26 a component for evaluating family history to identify women at risk for BRCA-related and non-BRCA hereditary BCs who require referral to genetic counseling. The PAT, developed by one of the authors (K.F.H.)…”

Section: Participantsmentioning

confidence: 99%

“…The PAT, developed by one of the authors (K.F.H.) for screening women in PC, 25,26 is one of four instruments recommended by the USPSTF for identifying women who should be referred for genetic counseling. None of these instruments has been shown to be superior to the others.…”

Section: Participantsmentioning

confidence: 99%

“…4 A PAT score of Ն 8 was identified in validation studies as the optimal threshold for referral for genetic counseling. 25 The moderate-risk group represented women who might be candidates for chemoprevention or enhanced screening with more frequent clinical breast examinations or earlier initiation of mammography but who did not meet criteria for MRI screening or referral for genetic counseling (ie, are not at high risk for hereditary cancer syndrome). Because the PAT was designed specifically to identify women at risk for a hereditary syndrome, it was not used to assign women to the moderate-risk category.…”

Section: Breast Cancer Risk Assessment In Primary Care Breast Cancer mentioning

confidence: 99%

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Breast Cancer Risk Assessment Among Low-Income Women of Color in Primary Care: A Pilot Study

Anderson

Tejeda

Childers

et al. 2015

JOP

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Purpose: The US Preventive Services Task Force recommends identifying candidates for breast cancer (BC) chemoprevention and referring them for genetic counseling as part of routine care. Little is known about the feasibility of implementing these recommendations or how low-income women of color might respond to individualized risk assessment (IRA) performed by primary care providers (PCPs). Methods:Women recruited from a federally qualified health center were given the option to discuss BC risk status with their PCP. Comprehensive IRA was performed using a software tool designed for the primary care environment combining three assessment instruments and providing risk-adapted recommendations for screening, prevention, and genetic referral. Logistic regression models assessed factors associated with wanting to learn and discuss BC risk with PCP.Results: Of 237 participants, only 12.7% (n ϭ 30) did not want to discuss IRA results with their PCP. Factors associated with lower odds of wanting to learn results included having private insurance and reporting ever having had a mammogram. Factors associated with higher odds of wanting to learn results included older age (50 to 69 years) and increased BC worry. For all women wishing to learn results, IRA was successfully completed and delivered to the PCP immediately before the encounter for incorporation into the well-visit evaluation. Conclusion: Incorporation of US Preventive Services TaskForce recommendations as part of routine primary care is feasible. Interest in IRA seems high among underserved women. This approach warrants further investigation as a strategy for addressing disparities in BC mortality.

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“…The BRCAPRO Bayesian probability model [accessed through CancerGene (http:// www3.utsouthwestern.edu/cancergene/)] is a computerbased program that predicts the likelihood of identifying a BRCA1 and BRCA2 mutation, given family history. This model was developed using mutation rates of Ashkenazi Jewish and other European populations (14)(15)(16)(17)(18)(19).…”

Section: Introductionmentioning

confidence: 99%

BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management

Marchina

Fontana²,

Speziani³

et al. 2010

Oncol Rep

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Abstract. Hereditary breast cancer accounts for 5-10% of all cases of breast cancer and 10-15% of ovarian cancer and is characterised by dominant inheritance, early onset, the severity of the disease and bilaterality. About 30% of cases with hereditary breast and ovarian cancer have mutations in the BRCA1 and BRCA2 genes. Women with a mutation in the BRCA1 gene have a 80-90% lifetime risk of developing breast cancer, and 40-65% chance of developing ovarian cancer. Most studies carried out throughout the world indicate that the prevalence of BRCA1 and BRCA2 mutation is lower than originally suggested by early studies on large families with several affected members. Studies performed in Italy have reported different prevalence of BRCA1 and BRCA2 mutations, probably due to different selection criteria and to the variability of the techniques used. In this study, we performed a screening of BRCA1 and BRCA2 in families from northern Italy with familial recurrence of breast cancer or ovarian cancer in which the individual risk of patients of being carriers of BRCA1 and BRCA2 mutation was evaluated using BRCAPRO (CAGene) software. We enrolled 27 patients of 101 unrelated families selected when they fulfilled the inclusion criteria of the American Society of Clinical Oncology (ASCO). Specific risk evaluation, genetic test administration if needed, and discussion of the results were offered during multidisciplinary genetic, surgical and psychological counselling. Seven probands (35%) found BRCA1/2 sequence variation carriers; no BRCA1 and BRCA2 mutations were detected in the remaining 13 probands. Two (15%) patients had BRCA1 mutations and 5 (25%) patients had BRCA2 mutations. In the latter case, BRCA2 delA 9158fs+29stop mutation in exon 22, never previously described and a new sequence variation (T703N) in exon 11 were identified.

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Validation of a tool for identifying women at high risk for hereditary breast cancer in population‐based screening

Cited by 85 publications

References 75 publications

Tutorial dialogues and gist explanations of genetic breast cancer risk

Tutorial dialogues and gist explanations of genetic breast cancer risk

Breast Cancer Risk Assessment Among Low-Income Women of Color in Primary Care: A Pilot Study

BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management

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