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This Week in JAMA: Feb 8, 2012

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In JAMA this week, researchers from the US and Europe report a study on the association between age at diagnosis and disease-specific mortality in postmenopausal women with hormone receptor-positive breast cancer. The team analyzed data from 9,766 patients. They found that disease-specific mortality increased with increasing age of the patients, with women 75 years or older displaying the most disease-specific mortality. "Similarly, breast cancer relapse increased with age for patients aged 65-74 years and patients aged 75 years or older," the authors write. "Among postmenopausal women with hormone receptor-positive breast cancer, increasing age was associated with a higher disease-specific mortality."

Also in JAMA this week, Virginia Commonwealth University's Steven Woolf and the University of North Carolina at Chapel Hill's Russell Harris comment on the harms that can be done by excessive disease screening, particularly for cancer. While trials show that early detection of various cancers can reduce their mortality rate, screening can also cause physical complications, anxiety, over-diagnosis, and potentially needless tests and treatments, Woolf and Harris write. Screening guidelines are now being revised to reduce the risk of those possible harms, and doctors are being urged to be cautious. "It is not possible to predict whether greater awareness of harms will dampen patients' enthusiasm for dubious screening tests," the authors add. "However, society's first concern should be to confirm that screening is a net good for public health."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.