Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients

Schwartz, Marc D.; Lerman, Caryn; Brogan, Barbara M.; Peshkin, Beth N.; Isaacs, Claudine; DeMarco, Tiffani A.; Halbert, Chanita Hughes; Pennanen, Marie; Finch, Clinton

doi:10.1158/1055-9965.epi-03-0545

Cited by 85 publications

(88 citation statements)

References 33 publications

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“…This finding is similar to previous studies in the USA that indicate physician recommendation represents a powerful motivation for uptake of cancer genetics services (Ricker et al 2006;Ropka et al 2006;Schwartz et al 2005). Therefore, physicians can play an important role in identifying and informing at-risk women about HBOC and GT.…”

Section: Knowledge About Hereditary Cancer By Locationsupporting

confidence: 88%

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

et al. 2011

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This study explored baseline levels of knowledge and attitude toward genetic testing (GT) for hereditary breast and ovarian cancer among Puerto Rican women. A secondary aim was to evaluate whether these factors differed between respondents in Puerto Rico and Tampa. Puerto Rican women with a personal or family history of breast or ovarian cancer who live in Puerto Rico (n=25) and Tampa (n=20) were interviewed. Both groups were interested in obtaining GT; women living in Puerto Rico were more likely to report they would get GT within 6 months (p=0.005). The most commonly cited barrier was cost; the most commonly cited facilitator was provider recommendation. There was no difference in overall knowledge between Tampa (M=5.15, SD=1.63) and Puerto Rico (M=5.00, SD=1.87) participants (p=0.78). Involving health care providers in recruitment and highlighting that GT may be available at minimal or no cost in the USA and Puerto Rico may facilitate participation.

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Section: Knowledge About Hereditary Cancer By Locationsupporting

confidence: 88%

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

et al. 2011

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“…This high percentage and the preference to receive information about hereditary breast cancer from a treating surgeon suggest an approach for genetic counseling before surgery, especially in view of the possible advantages such as early approach may have on thedecision-makingprocessfortreatment. 19,34 Itispossiblethatfindings would differ for newly diagnosed patients making treatment decisions. More research is needed to explore the consequences of such timing on patients' psychological well-being.…”

Section: Mean (Sd)mentioning

confidence: 99%

“…17,18 If there is a prompt genetic test at the time of the initial breast cancer diagnosis, uptake is associated with a physician's recommendation for BRCA1/2 testing and indecision about definite local treatment. 19 Although the mean real uptake for genetic testing among women with a personal history of breast cancer (70%, range 26 -96%) does not differ from that of unaffected women with a family history of breast cancer (70%, range 20 -96%), as reviewed by Ropka et al, 20 these two groups may differ as to their reasons for not having a test. The perceived importance of benefits is associated with uptake in presymptomatic DNA testing.…”

mentioning

confidence: 99%

Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer

Schlich-Bakker

Kroode

Wárlám-Rodenhuis

et al. 2007

Genetics in Medicine

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Purpose: Little is known about reasons why eligible breast cancer patients decline BRCA mutation testing. They may withdraw at different stages during genetic counseling for different reasons. We prospectively studied perceived benefits and barriers to genetic counseling and BRCA testing in 102 newly diagnosed breast cancer patients approached for genetic counseling at the start of radiotherapy. Methods: Patients completed questionnaires and participated in interviews at different stages of the counseling protocol. Results: Participation was not influenced by distress, knowledge about hereditary breast cancer, previous genetic testing in relatives, or perceived risks and barriers. Immediate decliners (n ϭ 23) do not believe genetic testing is relevant for them.Patients who decline after pedigree compilation (n ϭ 14) are more hesitant and anxious about the influence of the test result on their future often wishing to postpone further testing. Late decliners (n ϭ 7) withdraw afraid of the test result and/or after a relative's objection. These decliners are not easily identified upon approach because they are similar to patients who receive a DNA test result (n ϭ 58). Notwithstanding their decline, 81% agreed to the timing or would have preferred an earlier approach for genetic counseling. Conclusion: Decliners may make more informed decisions after tailored health education, including adequate risk information. Genet Med 2007:9(11):766 -777. Key Words: genetic testing, participation, decline, barriers, breast cancer patientsWomen from high-risk families can obtain risk estimations for breast and ovarian cancer through BRCA1/2 mutation testing. Carrying a BRCA1/2 gene mutation increases one's lifetime risk of developing breast and/or ovarian cancer compared with the general population. 1 The most noted benefits of testing for mutations are: (1) to obtain breast cancer risk information for one's self and family members, particularly any children, (2) to learn about ovarian cancer risk, (3) to obtain certainty, and (4) to make more informed decisions about prophylactic mastectomy and prophylactic oophorectomy. [2][3][4][5][6][7][8] Despite these evident benefits, not all eligible individuals choose to participate in genetic counseling and BRCA1/2 testing.The uptake of presymptomatic testing is higher in persons of higher socioeconomic status, who have health insurance, who show a higher knowledge about DNA testing, who perceive the benefits as important, and who have more relatives affected by breast cancer. 3 In addition, Biesecker et al. 9 found that members of families with an identified BRCA mutation were more likely to have genetic testing when they become old (Ͼ40 years), married, and if there was a higher level of family cohesiveness. In these families, cancer-specific distress and worry play a significant role in the choice to test for BRCA1 mutations 2,10 as does a greater perceived risk of being a mutation carrier and of developing breast or ovarian cancer, and the perception that the advantages of BRCA tes...

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“…Previous studies of genetic testing for hereditary cancer that have found physician recommendation to be a key factor in predicting both interest in and uptake of genetic testing. 36,50,51 Therefore, we developed a single item to assess the perceived importance of physician recommendation on interest in genetic testing for TC on a fivepoint Likert Scale (1 ϭ strongly agree to 5 ϭ strongly disagree), should such a genetic test become available.…”

Section: Health Beliefs and Attitudesmentioning

confidence: 99%

Familial testicular cancer: Interest in genetic testing among high-risk family members

Peters

Vadaparampil

Kramer

et al. 2006

Genetics in Medicine

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Purpose: This study is part of an ongoing National Cancer Institute multidisciplinary, etiologically-focused, crosssectional study of Familial Testicular Cancer (FTC). The current report targets interest in clinical genetic testing for susceptibility to FTC. Methods: Demographics, knowledge, health beliefs, and psychological and social factors were evaluated as covariates related to interest in genetic testing. Results: The majority (66%) of 229 participants (64 affected men, 66 unaffected men, and 99 women) from 47 multiple-case FTC families expressed interest in having a genetic test within 6 months, should such a test become available. Interest was similar among the three subgroups mentioned above. Worries about insurance discrimination based on genetic test results were associated with a significantly lower interest in testing. Alternatively, participants were more likely to be interested in genetic testing if they were younger and had higher levels of family support, a physician's recommendation supporting testing, cancer distress, and a need for information to inform the health care of their children.

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Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients

Cited by 85 publications

References 33 publications

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women

Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer

Familial testicular cancer: Interest in genetic testing among high-risk family members

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