Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach.

Genetic counseling and testing are more accessible than ever due to reduced costs, expanding indications and public awareness. Nonetheless, many patients missed the opportunity of genetic counseling and testing due to barriers that existed at that time of their cancer diagnoses. Given the identified implications of pathogenic mutations on patients' treatment and familial outcomes, an opportunity exists to utilize a 'traceback' approach to retrospectively examine their genetic makeup and provide consequent insights to their disease and treatment. In this study, we identified living patients diagnosed with breast cancer (BC) between July 2007 and January 2022 who would have been eligible for testing, but not tested. Overall, 422 patients met the eligibility criteria, 282 were reached and invited to participate, and germline testing was performed for 238, accounting for 84.4% of those invited. The median age (range) was 39.5 (24-64) years at BC diagnosis and 49 (31-75) years at the date of testing. Genetic testing revealed that 25 (10.5%) patients had pathogenic/likely pathogenic (P/LP) variants; mostly in BRCA2 and BRCA1. We concluded that long overdue genetic referral through a traceback approach is feasible and effective to diagnose P/LP variants in patients with history of BC who had missed the opportunity of genetic testing, with potential clinical implications for patients and their relatives.

Quality of Life of Family Caregivers of Critically Ill Patients With Cancer Before and After Intensive Care Unit Admission Measured by EQ-5D 3-Level: A Longitudinal Prospective Cohort Study.

OBJECTIVES: Admission to the Intensive Care Unit (ICU) is considered a distress journey with an increased demand and cost for informal caregiving. This study aimed to generate utility values through assessing the quality of life (QoL) of family caregivers using the EQ-5D-3L measure before and after ICU admission of their family members. METHODS: A 1-year prospective cohort study (January 2017 to February 2018) was conducted at a comprehensive cancer center in Jordan. Caregivers of adult patients who were in the ICU for ≥ 24 hours were included. The QoL was assessed using the EQ-5D-3L instrument. Caregivers' health profiles were described, and single summary index value for their health status were calculated before ICU admission and were compared with 1-week, 1-month, and 3-month utility index scores after ICU discharge. Predictors of the change of caregivers' QoL were also reported. RESULTS: During the study period, 126 caregivers completed the QoL assessment at baseline. The mean age ± SD of the cohort was 55 years ± 14, and 52% were males. The mean utility scores ± SD were 0.70 ± 0.32, 0.73 ± 0.29, 0.71 ± 0.31, and 0.78 ± 0.31 at baseline, 1 week, 1 month, and 3 months after discharge, respectively. A significant relationship between the patient's Acute Physiology and Chronic Health Evaluation (APACHE II) score and the change in caregiver's utility score index after 3 months was reported. CONCLUSIONS: Improvement in caregivers' QoL has been seen 3 months after ICU discharge. Patients' APACHE II score at baseline is a predictor of the change of caregivers' QoL 3 months after discharge.

Differences in clinicopathological characteristics, treatment, and survival outcomes between older and younger breast cancer patients.

In developing countries, breast cancer is diagnosed at a much younger age. In this study we investigate the dichotomies between older and young breast cancer patients in our region. The study involved two cohorts; older patients (≥ 65 years, n = 553) and younger ones (≤ 40 years, n = 417). Statistical models were used to investigate the associations between age groups, clinical characteristics and treatment outcomes. Compared to younger patients, older patients were more likely to present with advanced-stage disease (20.6% vs. 15.1%, p = .028). However, among those with non-metastatic disease, younger patients tended to have more aggressive pathological features, including positive axillary lymph nodes (73.2% vs. 55.6%, p < .001), T-3/4 (28.2% vs. 13.8%, p < .001) and HER2-positive disease (29.3% vs. 16.3%, p < .001). The 5-year overall survival (OS) rate was significantly better for the younger (72.1%) compared to the older (67.6%), p = .035. However, no significant difference was observed in disease-free survival (DFS) between the two groups.In conclusion, younger patients with breast cancer present with worse clinical and pathological features, albeit a better OS rate. The difference in DFS between the two groups was not insignificant, suggesting that older women were more likely to die from non-cancer related causes.

Prolonged Neutropenia and Yellowish Discoloration of the Skin, But Not the Sclera, Following Excessive Turmeric Raw Root Ingestion.

The medicinal use of curcumin has gained popularity in recent years especially so among cancer patients undergoing chemotherapy. In this report, we describe the case of a 51-year-old female breast cancer patient who self-medicated on large amounts of turmeric root infusions while receiving chemotherapy. The patient presented with yellowish discoloration of her skin, but normal-colored sclera. She also had severe neutropenia, which persisted despite halting chemotherapy. When her white blood cell counts returned to normal, only after stopping her turmeric regimen, we determined that her neutropenia is associated with turmeric consumption making this the first report to establish this link. This report demonstrates that, as an alternative form of medication, curcumin consumption should still be monitored in cancer patients. We provide the visible sign of yellowish skin discoloration as a visible aid for healthcare providers in detecting turmeric consumption as a risk factor to be considered in differential diagnoses of unexplained neutropenia.

Effect of level of hormone-receptor expression on treatment outcomes of "triple-positive" early-stage breast cancer.

PURPOSE: Breast cancer that overexpresses the human epidermal growth factor receptor-2 (HER2) and both estrogen (ER) and progesterone (PR) receptors is recently recognized as a subtype (triple-positive) with distinctive behavior and response to treatment. In this study, we investigate the treatment outcomes and the beneficial effect of anti-HER2 treatment in relation to level of hormone-receptor (HR) expression. METHODS: Consecutive breast cancer patients with triple-positive disease, diagnosed, treated and followed at our institution between 2006 and 2016 were enrolled. Disease-free survival (DFS) was studied in relation to the level of HR-positivity. RESULTS: During the study period, a total of 312 were enrolled; median age (range) was 47 (20-83) years. Fifty (16.0%) of the enrolled patients received adjuvant chemotherapy without trastuzumab (cohort A). All remaining patients were treated with both chemotherapy and trastuzumab and were divided into two groups: Cohort B with both ER and PR scores ≥ 50% (n = 130, 41.7%) and Cohort C with ER and/or PR < 50% (n = 132, 42.3%). After a median follow-up of 47 months, 14 (28.0%), 30 (23.1%) and 20 (15.2%) patients in cohorts A, B, and C had an event in a form of local/system relapse or death while disease-free. The estimated 5-year DFS was 56.2%, 75.4%, and 80.8%, respectively, and at 7 year was 56.2%, 67.1%, and 78.0%, respectively (p < 0.001). CONCLUSIONS: HER2-positive tumors are not homogeneous; stronger ER/PR co-expression may weaken the beneficial effect of anti-HER2 therapy. Such findings may have potential implication on modifying anti-HER2 treatment based on the strength of HR expression.