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عضویت در گروه بین المللی تشخیص مولکولی انتشار تست ژنتیک سرطان پروستات

International Team Publishes Prostate Cancer Genetic Testing, Counseling Consensus Guidelines

NEW YORK (GenomeWeb) – A Thomas Jefferson University-led team has set out guidelines to help health care providers determine when and how they should be offering their patients genetic testing for variants implicated in prostate cancer risk.

“With a multitude of genetic tests on the market already, the technology provides more information right now than we can act upon in the clinic,” senior author Leonard Gomella, urology department chair at Thomas Jefferson University and clinical director of the Sidney Kimmel Cancer Center, said in a statement. “We convened a consensus panel at Jefferson to fill the gap in guidelines and develop best practices for when and how to use these genetic panels, and how to help patients navigate the information they receive from them.”

He and his colleagues brought together nearly six dozen experts from the US, Canada, the UK, and the Netherlands in fields ranging from clinical cancer genetics, molecular pathology, and medical oncology to genetic counselling, bioethics, epidemiology, and patient advocacy for the Philadelphia Prostate Cancer Consensus Conference in March — a meeting aimed at establishing recommendations around multigene panel tests for prostate cancer risk and related issues.

The effort stemmed from a growing appreciation that mutations associated with hereditary breast and ovarian cancer, Lynch syndrome, and other cancer-predisposition syndromes may notch up prostate cancer risk as well. In addition, mutations affecting the HOXB13 gene have been implicated in hereditary prostate cancer.

“There is increasing recognition that some prostate cancers can be inherited,” first author Veda Giri, director of cancer risk assessment and the clinical cancer genetics program at Thomas Jefferson University, said in a statement. “Genetic testing could provide men and their families with information about cancer risk, inform screening, and guide better treatment planning and options.”

Following a literature review and consensus model analysis, the team came up with a framework for evaluating genetic information in prostate cancer. Their resulting consensus report — encompassing prostate cancer-related genetic risk testing, genetic counselling, and genetics informed prostate cancer management — was reported yesterday in the Journal of Clinical Oncology.

For example, the authors noted that there was “strong consensus to factor BRCA2 mutations into [prostate cancer] screening discussions.” They reportedly reached more modest consensus when it came to questions of whether to test for potentially prognostic BRCA2 mutations for managing early-stage prostate cancer or whether to do widespread genetic testing on individuals with more advanced and/or metastatic forms of prostate cancer.

Likewise, the experts reportedly reached moderate agreement on the notion of doing ATM or HOXB13 germline mutation testing in individuals with ATM- or HOXB13-mutated prostate tumors. More experts were onboard with the idea of doing germline BRCA1/2 testing in prostate cancer cases marked by somatic mutations in these genes.

Along with strategies for making it more straightforward to refer a patient to a genetic counselor, the experts also encouraged urologists to take detailed family histories of men diagnosed with prostate cancer to flag family members affected by prostate, breast, colorectal, or other cancer types.

The authors also looked ahead to areas ripe for further study, noting that future research “should focus on developing a working definition of [prostate cancer] for clinical genetic testing, expanding understanding of genetic contribution to aggressive [prostate cancer], exploring clinical use of genetic testing for [prostate cancer] management, genetic testing of African-American males, and addressing the value framework of genetic evaluation and testing men at risk of [prostate cancer] — a clinically heterogeneous disease.”

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