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Genetics of Breast and Ovarian Cancer (PDQ®)
Health Professional VersionLast Modified: 10/02/2009



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 (10/02/2009)






More Information



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Changes to This Summary (10/02/2009)

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.

Major Genes

Added Antoniou et al. as reference 76.

Added text to state that there have been variable results in the performance of the BRCAPRO model among Hispanics (cited Kurian et al. as reference 81) and that further information is needed to determine which model performs best in each ethnic group.

Added text to Table 2 about limitations of the BRCAPRO model (cited Ready et al. and Huo et al. as references 84 and 85).

The Pathology/Prognosis of Breast Cancer subsection was extensively revised.

Low Penetrance Predisposition to Breast and Ovarian Cancer

Revised the Confirmed Candidate Breast Cancer Susceptibility Genes subtitle to read Breast Cancer Susceptibility Genes Identified Through Candidate Gene Approaches.

Added text to state that genome-wide studies have replicated breast cancer susceptibility loci and identified additional ones (cited Zheng et al. as reference 68, Kibriya et al. as reference 69, Murabito et al. as reference 70, Stacey et al. as reference 71, and Ahmed et al. as reference 72). Added text to state that an online catalog of SNP-trait associations from published genome-wide association studies is available. Added Table 6.

Added text on breast cancer susceptibility loci to state that they are associated with very modest risk (typically odds ratio < 1.5).

Interventions

Added text on a follow-up study suggesting that the recent reduction in breast cancer incidence, especially among women aged 50 to 69 years, is predominantly related to decrease in use of combined estrogen plus progestin HRT (cited Chlebowski et al. as reference 59).

Added text on a meta-analysis of reports of RRSO and breast and ovarian/fallopian tube cancer in BRCA1/BRCA2 mutation carriers that confirmed that RRSO was associated with a significant reduction in breast cancer risk (cited Rebbeck et al. as reference 103).

Psychosocial Issues in Inherited Breast Cancer Syndromes

Added text about a U.K. study suggesting that proactive approaches to offering predictive testing (telephone calls and home visits) may be useful in increasing testing uptake among at-risk men (cited Evans et al. as reference 32).

Added Dorval et al. as reference 38.

Added text about a prospective study that assessed the stability of risk management preferences over five time points among 80 Dutch women with a documented BRCA mutation; however, it was not reported how many women actually had RRM (cited van Dijk et al. as reference 183).

Added text about a survery of Swedish women who had undergone RRM and were asked questions prior to surgery, 6 months after surgery, and 1 year after surgery to evaluate changes in health-related quality of life, depression, anxiety, sexuality, and body image (cited Brandberg et al. as reference 191).

Added text about a qualitative study of women who underwent or were considering RRM who believed that psychological consultation prior to surgery would facilitate decision-making (cited Patenaude et al. as reference 211).

Added text about an Ontario Ministry of Health study that found that the majority of 127 women who had undergone RRSO 1 year previously, felt that RRSO reduced their risk of both breast and ovarian cancer, with a wide range of risk perceptions for ovarian cancer noted in the group (cited Finch et al. as reference 214).

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