First-trimester radiation therapy should be avoided. Chemotherapy may be given after the first trimester as discussed in the section on Early Stage Breast Cancer. Because the mother may have a limited life span (most studies show a 5-year survival rate of 10% in pregnant patients with stage III and IV disease), and there is a risk of fetal damage with treatment during the first trimester,[1,2] issues regarding continuation of the pregnancy should be discussed with the patient and her family. Therapeutic...
Updated statistics with estimated new cases and deaths of breast cancer and ovarian cancer for 2013 (cited American Cancer Society as reference 1).
Added Figure 1, Classic BRCA1 Pedigree.
Added Figure 2, Classic BRCA2 Pedigree.
Revised text to state that studies examining the impact of radiation exposure, including, but not limited to, mammography, in BRCA1 and BRCA2 mutation carriers have had conflicting results (cited Goldfrank et al., Gronwald et al., and Pijpe et al. as references 44, 45, and 46, respectively). Also added text to state that a large European study showed a dose-response relationship of increased risk with total radiation exposure, but this was primarily driven by nonmammographic radiation exposure before age 20 years.
High-Penetrance Breast and/or Ovarian Cancer Susceptibility Genes
Added text to state that the inclusion of breast tumor markers, such as estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, has been shown to improve the performance of BRCAPRO and the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (cited Biswas et al., Mavaddat et al., and Tai et al. as references 104, 105, and 106, respectively).
Added Liu et al. as reference 252.
Added text to state that two studies failed to find convincing evidence of an association between ionizing radiation exposure and breast cancer risk in BRCA1 and BRCA2 mutation carriers (cited Narod et al. and Goldfrank et al. as references 282 and 283, respectively). Also added text about two large international studies that found evidence of an increased risk due to chest x-rays (cited Andrieu et al. as reference 284) or estimates of total exposure to diagnostic radiation (cited Pijpe et al. as reference 285).
Added text about a study that suggested that the most cost-effective screening strategy in BRCA1 and BRCA2 mutation carriers may be annual magnetic resonance imaging (MRI) beginning at age 25 years, with alternating MRI and digital mammography beginning at age 30 years (cited Lowry et al. as reference 287); the National Comprehensive Cancer Network currently recommends annual mammography and MRI screening beginning at age 25 years.
Added text about the timing of mammography and MRI and described a cost-effectiveness study that suggested annual MRI beginning at age 25 years, with alternating MRI and digital mammography beginning at age 30 years in BRCA1 and BRCA2 mutation carriers.
Low- and Moderate-Penetrance Genes Associated With Breast and/or Ovarian Cancer
Added text to state that among 559 cases with contralateral breast cancer and 565 matched controls with unilateral breast cancer, pathogenic (truncating) PALB2 mutations were identified in 0.9% of cases and in none of the controls (cited Tischkowitz et al. as reference 71).
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