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Genetics of Breast and Ovarian Cancer (PDQ®)
Health Professional VersionLast Modified: 03/04/2008



Purpose of This PDQ Summary






Introduction






Major Genes






Low Penetrance Predisposition to Breast and Ovarian Cancer






Interventions






Psychosocial Issues in Inherited Breast Cancer Syndromes






Get More Information From NCI







Changes to This Summary (03/04/2008)






More Information



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Changes to This Summary (03/04/2008)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Introduction

Updated statistics with estimated new cases and deaths for 2008 (cited American Cancer Society as reference 1).

Major Genes

Added text about a founder mutation (BRCA2, exon 3 Alu insertion) that has been described in Portugal (cited Machado et al. as reference 41).

Added text about models that have been developed to predict the probability of identifying germline BRCA1 and BRCA2 mutations in individuals or families (cited Evans et al., Apicella et al., Euhus et al., de la Hoya et al., Berry et al., Barcenas et al., and Kang et al. as references 101, 102, 104, 105, 106, 107, and 108, respectively).

Added text about a study of Ashkenazi Jewish women with DCIS and women with invasive cancers that compared BRCA1/2 mutation prevalence and found that the prevalence of founder mutations in DCIS cases was similar to that of invasive cases among referred patients, but was about one-third lower among unselected subjects. Although overall evidence suggests DCIS is part of the BRCA1/BRCA2 spectrum, the prevalence of mutations in DCIS patients is less than 5% (cited Smith et al. as reference 145).

Psychosocial Issues in Inherited Breast Cancer Syndromes

Added text to state that in one study of women who pursued BRCA1/2 mutation testing and received uninformative test results, 45% were interested in undergoing additional testing for five large rearrangements in the BRCA1 gene. These women were less likely to have a diagnosis of breast or ovarian cancer at the time of initial testing (cited Shannon et al. as reference 21).

Added text about a Dutch study of communication processes and satisfaction levels of cancer genetic counselees indicating that asking more medical questions (by counselor), providing more psychosocial information, and longer eye contact by the counselor were associated with lower satisfaction levels. The provision of medical information by the counselor was most highly related to satisfaction and perception that needs have been fulfilled (cited Pieterse et al. as reference 76).

Added text about psychological effects on the partners of women considered at a high risk of developing cancer (cited Mireskandari et al. as reference 118).

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