Risk, Screening, and Prevention
- These include not only those related to BRCA1 and BRCA2 mutations, but also other genes whose roles have yet to be fully defined.
- CDH1 mutations are associated with a lifetime breast cancer risk of about 40%, as well as with diffuse gastric carcinomas, and CDH1-related carcinomas are usually of lobular histology.
- The lifetime risk of breast cancer for individuals affected with Peutz-Jeghers syndrome is 45%.
- Patients with Li-Fraumeni syndrome have a higher incidence of radiation-induced cancers, and consideration should be given to mastectomy rather than breast-conserving therapy and radiation for the treatment of early breast cancers in carriers of this mutation.
- The American Cancer Society recommends the use of annual magnetic resonance imaging (MRI) screening in addition to standard annual mammography in women with a lifetime risk greater than 20% of developing cancer or in those with a history of chest irradiation.
- Type 2 diabetes mellitus is an independent risk factor for breast cancer, and patients treated with metformin have a reduced incidence of breast and liver cancers.
Triple-Negative Breast Cancer
- There is considerable heterogeneity among triple-negative breast cancers. Indeed, these cancers can include, if rarely, disease metastatic to the breast, medullary carcinoma, pure apocrine carcinoma, and some metaplastic breast cancers as well as tumors defined by gene expression profiling as "basal-like" breast cancers.
- It is hypothesized that in the absence of the normal BRCA1 DNA-repair mechanism, BRCA-deficient cells are more likely to use the polyADP-ribose polymerase (PARP1) DNA-repair pathway.
From Advances in the Treatment of Metastatic Breast Cancer by Andrew Seidman MD
Locoregional Therapy of the Primary Tumor in Patients With Distant Metastases
- Preclinical experimental evidence and hypotheses of self-seeding raise the notion that perhaps we should be more aggressive about the local control issue in more patients with simultaneous distant metastases.
ER, PR, and HER2 Status in the Primary Tumor and Distant Metastasis: A Moving Target?
- When patients are suspected of developing metachronous distant metastases, the dictum most oncologists are taught is "settle this issue and get some tissue." Biopsy confirmation of metastatic disease is the rule rather than the exception.
- At Memorial Sloan-Kettering Cancer Center, we have a unique set of matched breast primary tumors and brain metastases from patients who underwent medically indicated craniotomy; we have observed very high concordance in HER2, ER, and PR status between the breast primary and brain metastases (Brogi E and Seidman AD, unpublished data).
CNS Metastases in HER2-Positive Metastatic Breast Cancer: The RegistHER Study
- Brufsky and colleagues reported on a prospective, observational study of 1023 patients with newly diagnosed HER2-positive metastatic breast cancer.
- Of the 1009 patients included in the analysis, 337 (33.2%) experienced CNS metastases at a median time of 12.8 months from metastatic diagnosis.
New Concepts and Therapeutic Approaches for Early-Stage Breast Cancer by Michaela Higgins MD and Antonio Wolff MD; Medscape Article, Oct 15, 2008
Advances in the Treatment of Metastatic Breast Cancer by Andrew Seidman MD; Medscape Article, Oct 15, 2008