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Journal ArticleDOI

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

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TLDR
These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing.
Abstract
Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider’s professional judgment based on the clinical circumstances of a client.

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BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface

TL;DR: Changes to the BOADICEA model are described that extend its capabilities, make it easier to use in a clinical setting and yield more accurate predictions, and have a significant impact on risk predictions.
Journal ArticleDOI

Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019

Veda N. Giri, +91 more
TL;DR: This multidisciplinary, consensus-driven PCA genetic implementation framework provides novel guidance to clinicians and patients tailored to the precision era and includes optimal pretest informed consent, post-test discussion, cascade testing, and technology-based approaches.
Journal ArticleDOI

Update in genetic susceptibility in melanoma.

TL;DR: Variants in melanocortin 1 receptor (MC1R) and microphthalmia-associated transcription factor (MITF) give a moderately increased risk to develop melanoma.
References
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Journal ArticleDOI

Pharmacological interventions for somatoform disorders in adults.

TL;DR: A systematic review and meta-analysis of placebo-controlled studies examined the efficacy and tolerability of different types of antidepressants, the combination of an antidepressant and an antipsychotic, antipsychotics alone, or natural products in adults with somatoform disorders in adults to improve optimal treatment decisions.
Journal ArticleDOI

Interventions for latent autoimmune diabetes (LADA) in adults.

TL;DR: Two studies show SU leading to earlier insulin dependence and a meta-analysis of four studies with considerable heterogeneity showed poorer metabolic control if SU is prescribed for patients with LADA compared to insulin.
Journal ArticleDOI

Tamoxifen for Prevention of Breast Cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study

TL;DR: Tamoxifen decreases the incidence of invasive and noninvasive breast cancer and its use as a breast cancer preventive agent is appropriate in many women at increased risk for the disease.
Book ChapterDOI

de la Chapelle, A.

TL;DR: De la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb shortening is associated with a characteristic triangular configuration of the radius and ulna.
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