31 research outputs found

    Breast cancer polygenic risk score and contralateral breast cancer risk

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    Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18–1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02–1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547–0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies

    The Future of General Internal Medicine: Report and Recommendations from the Society of General Internal Medicine (SGIM) Task Force on the Domain of General Internal Medicine

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    The Society of General Internal Medicine asked a task force to redefine the domain of general internal medicine. The task force believes that the chaos and dysfunction that characterize today's medical care, and the challenges facing general internal medicine, should spur innovation. These are our recommendations: while remaining true to its core values and competencies, general internal medicine should stay both broad and deep—ranging from uncomplicated primary care to continuous care of patients with multiple, complex, chronic diseases. Postgraduate and continuing education should develop mastery. Wherever they practice, general internists should be able to lead teams and be responsible for the care their teams give, embrace changes in information systems, and aim to provide most of the care their patients require. Current financing of physician services, especially fee-for-service, must be changed to recognize the value of services performed outside the traditional face-to-face visit and give practitioners incentives to improve quality and efficiency, and provide comprehensive, ongoing care. General internal medicine residency training should be reformed to provide both broad and deep medical knowledge, as well as mastery of informatics, management, and team leadership. General internal medicine residents should have options to tailor their final 1 to 2 years to fit their practice goals, often earning a certificate of added qualification (CAQ) in special generalist fields. Research will expand to include practice and operations management, developing more effective shared decision making and transparent medical records, and promoting the close personal connection that both doctors and patients want. We believe these changes constitute a paradigm shift that can benefit patients and the public and reenergize general internal medicine
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