BRCAMutation Carriers: Breast and Ovarian Cancer Screening Guidelines and Imaging Considerations

Abstract

reast cancer is the most common cancer in women, and is the second leading cause of cancer deaths. The age and incidence-adjusted estimates for new breast cancer cases in the United States for 2018 are 266 120 (15.3% of all new cancers), with 40 920 breast cancer deaths (6.7% of all cancer deaths) (1). Ovarian cancer is the fifth most common cancer in women and the fifth leading cause of cancer deaths. The estimates for new ovarian cancer cases in the United States for 2018 are 22 240 (1.3% of all new cancers), with 14 070 ovarian cancer deaths (2.3% of all cancer deaths) (2). Most breast and ovarian cancers occur sporadically. However, some women are predisposed to higher rates of breast and ovarian cancers secondary to an underlying genetic mutation, which are often referred to as hereditary breast and ovarian cancer susceptibility gene mutations.Family history is a well-known risk factor for breast and ovarian cancer, but there is a distinction between hereditary and familial cancer risks. Familial cancers occur in certain families with statistically greater frequency than in the general population. They typically do not exhibit a specific inheritance pattern and have no specific age of onset. Hereditary cancers most commonly occur as a result of genetic mutations. The majority of these gene mutations have an autosomal dominant transmission pattern (ie, first-degree relatives of an affected individual have a 50% risk of having the same gene mutation). These mutations are germline mutations that are not sex linked and can be transmitted equally from either parent. Affected individuals are at higher risk for bilateral disease, multifocal disease, and cancer onset at an earlier age, as well as for the uncommon clustering of cancers, including pancreatic cancer, melanoma, cholangiocarcinoma, and prostate cancer (3,4).Approximately 5%-10% of all breast cancers and up to 15% of all ovarian cancers are associated with an inheritable genetic mutation (5-8). The most common genetic mutations implicated in hereditary breast and ovarian cancers have been mapped to the BRCA1 (chromosome 17q21) and BRCA2 (chromosome 13q12.3) genes (9,10). The purpose of this article is to review the current screening guidelines for breast and ovarian cancers in patients who test positive for BRCA mutation and to briefly review the imaging features that are suspicious for early breast and ovarian cancers. Prevalence and Cancer RiskThe prevalence of the BRCA genetic mutation in the general population is relatively low (one in 400). However, certain populations have a higher incidence, particularly those with Ashkenazi Jewish ancestry (one in 40) due to

Up-regulation of SPC25 promotes breast cancer

“…Tumor-related genes such as PIK3CA, TP53, CDH1, PTEN, BRCA1, and BRCA2 , and mutations in them, play crucial roles in BC [11–15]. We therefore investigated the relationship between SPC25 expression and mutation frequencies in these tumor-related genes in BC.…”

Screening and Prevention for High-Grade Serous Carcinoma of the Ovary Based on Carcinogenesis—Fallopian Tube- and Ovarian-Derived Tumors and Incessant Retrograde Bleeding

“…Ovarian cancer screening needs to detect both early fallopian tube and ovarian lesions, as FTE and OSE are cells-of-origin for HGSC of the ovary [34][35][36][37]. Although ovarian cancer screening using TV-US and CA-125 is not recommended in low-risk women and high-risk women with BRCA mutations, for BRCA mutation carriers who have not yet undergone RRSO ovarian cancer screening may be considered at age 30-35 years [113]. In moderate-risk women, screening using these methods with or without a novel method may be effective [13].…”

Radiologic-Histopathologic Correlation of Transvaginal US and Risk-reducing Salpingo-oophorectomy for Women at High Risk for Tubo-ovarian Carcinoma

“…Screening may even pose harm, with a substantial number of major surgical complications resulting from false-positive cases (16). Despite these risks, several organizations support offering screening transvaginal US to high-risk women (7,(10)(11)(12)(13)(14)(15). In some screening studies involving high-risk patients with a genetic or family history, a stage shift has been observed, with the diagnosis at earlier stages.…”

“…Indeterminate and possibly malignant findings were considered abnormal in the final analysis. Cysts solid and thus difficult to distinguish from adjacent ovarian tissue and bowel (12).…”