Investigating the Link between Lynch Syndrome and Breast Cancer.

OBJECTIVE: Lynch syndrome is an inherited genetic disorder associated with a predisposition to early-onset colorectal and endometrial cancers, but breast cancer risk in these patients is debated. The aim of this study is to evaluate breast cancer rates in a cohort of Lynch syndrome patients, as well as to identify women who may be eligible for additional breast cancer specific genetic testing or enhanced breast surveillance (contrast-enhanced magnetic resonance imaging (MRI) screening). MATERIALS AND METHODS: Using a hereditary colorectal cancer registry at a single academic institution for identification of patients with Lynch syndrome, a retrospective chart review was performed of 188 women with DNA mismatch repair (MMR) mutations. The Tyrer-Cuzick model was used to estimate breast cancer risk in patients without breast cancer. RESULTS: The prevalence of breast cancer differed based on mutation type (p=0.0043), as 27% of women with a PMS2 mutation were diagnosed with breast cancer, compared to 3%, 4%, and 9% in MLH1, MSH2, and MSH6 patients. The average age at diagnosis for women with a PMS2 mutation was 46.7 years. Additionally, 7.5% of unaffected women had an estimated lifetime risk of breast cancer greater than 20%. 46/188 (24.4%) of patients were eligible for breast specific genetic testing. CONCLUSION: Our analysis suggests that Lynch syndrome patients with PMS2 mutations may be at higher risk of developing breast cancer. Additionally, the personal and family history of cancer suggests crossover in eligibility for breast specific genetic testing in a significant number of patients (16.5-24.4%). Also, many women are eligible for enhanced breast surveillance (7.5%) which would otherwise not be offered.

Invasive lobular breast cancer: A review of pathogenesis, diagnosis, management, and future directions of early stage disease.

Invasive lobular carcinoma (ILC) is the second most common type of invasive breast cancer after invasive ductal carcinoma (IDC). Invasive lobular carcinoma has unique clinical, pathologic, and radiographic features which suggest that it is a distinct clinical entity; however, it is treated with the same treatment paradigms as IDC. Information regarding the specific treatment of ILC, including response to standard therapy, is sparse. Neoadjuvant treatment considerations are of great importance in this space as ILC is often found at a locally advanced stage. In this review, we summarize the classic features of ILC and the available data regarding efficacy of both endocrine therapy and chemotherapy in curative treatment of breast cancer.

Doxycycline-induced gastrointestinal injury.

Doxycycline-induced gastric injury is a rarely recognized adverse effect of a common medication. Only 2 cases have previously described the distinctive capillary degeneration identified in gastric mucosa. We expanded on this by describing additional involved sites, endoscopic findings, and patient characteristics. Gastrointestinal biopsy materials for cases indexed with the word doxycycline were retrieved and the histology reviewed. The medical record was used to obtain clinical details. Three cases with biopsy materials were identified from the search, and doxycycline ingestion was confirmed. All patients' gastric biopsies had small vessel injury with fibrinoid material around the vessel, and 1 patient had similar changes in the duodenum. Endoscopic findings included fundic and pyloric erosions and ulcers. One patient had a normal endoscopy on follow-up after drug cessation. Confirmation and increased understanding of this drug-specific injury pattern are important for patient management, as cessation appears to result in symptom improvement and healing.