Genetics of Breast and Gynecologic Cancers–for health professionals (PDQ®)
SECTIONS
- Introduction
- High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes
- Low- and Moderate-Penetrance Genes Associated With Breast and/or Ovarian Cancer
- Clinical Management of BRCA Mutation Carriers
- Clinical Management of Other Hereditary Breast and/or Gynecologic Cancer Syndromes
- Psychosocial Issues in Inherited Breast and Ovarian Cancer Syndromes
- Changes to This Summary (11/12/2015)
- About This PDQ Summary
- Get More Information From NCI
- View All Sections
Changes to This Summary (11/12/2015)
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.
Updated DevCan as reference 160.
Added Bougeard et al. as reference 323.
Added text about a large clinical series of patients from France who were tested primarily based on the 2009 version of the Chompret criteria (cited Tinet et al. as reference 328) that included 415 mutation carriers from 214 families; 43% of TP53 mutation carriers had multiple malignancies, and the mean age at first tumor onset was 24.9 years; the childhood tumor spectrum was characterized by osteosarcomas, adrenocortical carcinomas, central nervous system tumors, and soft tissue sarcomas, whereas the adult tumor spectrum primarily encompassed breast cancer and soft tissue sarcomas. Evaluation of genotype-phenotype correlations indicated a gradient of clinical severity, with a significantly lower mean age at onset among those with dominant-negative missense mutations, compared with those with all types of loss-of-function mutations or genomic rearrangements.
Added text about a multi-institution study of 32 women with invasive carcinoma or serous tubal intraepithelial carcinoma; 47% of women with invasive cancer had a recurrence at a median time of 32.5 months, with an overall survival rate of 73%; for women with intraepithelial lesions, one patient had a recurrence at 43 months, suggesting a different disease process between the two entities (cited Powell et al. as reference 184).
The Emotional Outcomes subsection was comprehensively reviewed and extensively revised.
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
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