&lt;EMPH TYPE="ITAL"&gt;BRCA1&lt;/EMPH&gt; Testing—Advances and Retreats

Couch, Fergus J.

doi:10.1001/jama.279.12.955

Cited by 30 publications

(17 citation statements)

References 21 publications

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“…Some authors suggested that disclosure of uncertain DNA-test results might evoke uncertainty and distress [12][13][14]39]. However, we found no associations between UV disclosure, uncertainty, and distress.…”

Section: The Genetic-uncertainty-causes-distress-hypothesiscontrasting

confidence: 91%

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The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

et al. 2008

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Objective: Unclassified variants (UVs, variants of uncertain clinical significance) are found in 13% of all BRCA1/2 mutation analyses. Little is known about the counsellees' recall and interpretation of a UV, and its psychosocial/medical impact.Method: Retrospective semi-structured interviews with open questions and five-point Likert scales were carried out in 24 counsellees who received a UV result 3 years before (sd ¼ 1:9).Results: Sixty-seven percent (16/24) recalled the UV result as a non-informative DNA result; 29% recalled a pathogenic result. However, 79% of all counsellees interpreted the UV result as a genetic predisposition for cancer. Variations in recall and interpretation were unexplained by demographics, cancer history of themselves and relatives, and communication aspects of UV disclosure. Sixty-seven percent perceived genetic counselling as completed, whereas 71% expected to receive new DNA information. Although most counsellees reported that UV disclosure had changed their lives in general little, one in three counsellees reported large changes in specific life domains, especially in surveillance behavior and medical decisions. Ten out of 19 participants who interpreted the UV as pathogenic had undergone preventive surgery against none of the 5 counsellees who interpreted the UV as non-informative.Conclusion: Counsellors and researchers need to address discrepancies between the counsellees' factual recall and their subjective interpretation of non-informative BRCA1/2-test results.

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Section: The Genetic-uncertainty-causes-distress-hypothesiscontrasting

confidence: 91%

“…Several authors hypothesize [13,[38][39][40] that counsellees may incorrectly interpret uncertain results as certain results. Uncertain negative results may be interpreted as the certain absence and UVs as the certain presence of a genetic predisposition for cancer.…”

Section: The Distorted Perception Hypothesismentioning

confidence: 99%

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

et al. 2008

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“…If both breast and ovarian cancers are present, mutations in BRCA1 and BRCA2 account for closer to 80%-85% of hereditary breast cancer (16). In those families with only breast cancer, approximately 12% harbor a BRCA1 or BRCA2 mutation (16,17). Third, current testing strategies fail to de-tect some types of BRCA1 and BRCA2 mutations, such as larger genomic rearrangements and mutations in noncoding regions that influence gene expression and RNA stability (18,19).…”

Section: Discussionmentioning

confidence: 99%

Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers

Hartmann¹,

Sellers²,

Schaid³

et al. 2001

JNCI Journal of the National Cancer Institute

673

361

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Background:In women with a family history of breast cancer, bilateral prophylactic mastectomy is associated with a decreased risk of subsequent breast cancer of approximately 90%. We examined the association between bilateral prophylactic mastectomy and breast cancer risk in women at high risk for breast cancer who also had mutations in BRCA1 and BRCA2 genes. Methods: We obtained blood samples from 176 of the 214 high-risk women who participated in our previous retrospective cohort study of bilateral prophylactic mastectomy. We used conformation-sensitive gel electrophoresis and direct sequence analysis of the blood specimens to identify women with mutations in BRCA1 and BRCA2. The carriers' probabilities of developing breast cancer were estimated from two different penetrance models. Results: We identified 26 women with an alteration in BRCA1 or BRCA2. Eighteen of the mutations were considered to be deleterious and eight to be of uncertain clinical significance. None of the 26 women has developed breast cancer after a median of 13.4 years of followup (range, 5.8-28.5 years). Three of the 214 women are known to have developed a breast cancer after prophylactic mastectomy. For two of these women, BRCA1 and BRCA2 screening was negative, and no blood specimen was available for the third. Estimations of the effectiveness of prophylactic mastectomy were performed, considering this woman as both a mutation carrier and a noncarrier. These calculations

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“…[1][2][3] In this context of uncertainty, the American and French National task forces have decided that certain specific management strategies should be recommended for dealing with the challenge of managing individuals with high risk levels, despite the fact that little scientific evidence is available so far as to the efficacy of the preventive and surveillance options at our disposal. 4,5 In cases where the lifetime risk of cancer is higher than 40%, two preventive strategies were strongly advised in the French recommendations: an annual mammography from the age of 30 years for women with a hereditary breast cancer risk, and a preventive oophorectomy from the age of 35 years for women with a hereditary ovarian cancer risk.…”

Section: Introductionmentioning

confidence: 99%

Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines

et al. 2000

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After a BRCA mutation has been identified in the context of hereditary breast/ovarian cancer (HBOC), mammographic screening and prophylactic surgery are two of the main options available to those responsible for the clinical management of healthy women. The aim of this study was to describe the attitudes of specialists towards the clinical management of women with an HBOC risk: this information was collected prior to the publication of the recent French guidelines. A random national sample of 1169 French surgeons, gynaecologists and obstetricians was surveyed using a mailed questionnaire, to which 700 of these physicians (60%) responded. When dealing with a BRCA mutated woman, 88.6% of the respondents said they would recommend mammographic screening, but only 27.1% would recommend that it should be carried out annually from the age of 30 years onwards, as recommended in the French guidelines; 10.9% would find it acceptable to propose prophylactic mastectomy from the age of 30 years, and 22.9% would find it acceptable to propose prophylactic oophorectomy from the age of 35 years. The specialists who agreed with recommending breast/ovarian cancer genetic testing also had more positive attitudes towards prophylactic mastectomy (adj OR = 3.4, 95% CI = 1.4-8.2), as did those who had previously recommended prophylactic mastectomy when gene testing was not yet available (adj OR = 2.06, 95% CI = 1.23-3.44). The respondents' attitudes towards prophylactic oophorectomy and mastectomy were significantly associated (adj OR = 3.9; 95% CI = 2.3-6.5). Previous recommendation of prophylactic mastectomy was associated (P < 0.01) with a higher level of knowledge of breast/ovarian cancer genetics and with medical practice in this field. French physicians' attitudes towards mammographic screening and prophylactic surgery were not in complete agreement with the subsequently published French guidelines, the impact of which has now to be considered. Constantly evolving knowledge about the efficacy of preventive intervention will give practitioners new elements to integrate into their counselling.

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<EMPH TYPE="ITAL">BRCA1</EMPH> Testing—Advances and Retreats

Cited by 30 publications

References 21 publications

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers

Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines

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