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This Week in JAMA: May 11, 2011

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In JAMA this week, researchers in the US and Europe say they've developed a genomic predictor of response and survival for taxane-anthracycline chemotherapy in invasive breast cancer. In a multicenter study conducted from June 2000 to March 2010, the researchers measured distant relapse-free survival and absolute risk reduction in patients with newly diagnosed ERBB2–negative breast cancer treated with chemotherapy containing sequential taxane and anthracycline–based regimens. "Different predictive signatures for resistance and response to preoperative chemotherapy were developed from gene expression microarrays of newly diagnosed breast cancer," the authors write. "Breast cancer treatment sensitivity was then predicted using the combination of signatures for sensitivity to endocrine therapy, chemoresistance, and chemosensitivity, with independent validation and comparison with other reported genomic predictors of chemotherapy response." The team found that a genomic predictor combining ER status, predicted chemoresistance and chemosensitivity, and predicted endocrine sensitivity identified patients with a high probability of survival following taxane and anthracycline chemotherapy.

Also in JAMA this week, Harvard Medical School's Howard Libman presents the case of a 41-year-old woman with a BRCA mutation and a recent history of breast cancer. The patient, Ms. E, is at a "crossroads in her medical care," Libman says, and is seeking the advice of JAMA readers. Ms. E was diagnosed with breast cancer in June 2006, and she was treated with wide excision and adjuvant chemotherapy with doxorubicin and cyclophosphamide, followed by paclitaxel and radiation therapy. She has had no sign of recurrence. Because of her age, however, she was referred for genetic testing and soon found she has a 5382insC BRCA1 mutation. The questions for readers, Libman writes, are "What women should consider genetic testing for breast cancer susceptibility and at what age? How does a BRCA mutation affect management of breast cancer? What malignancies other than breast cancer are BRCA mutation carriers at risk for and how should that risk be managed? What is preimplantation genetic diagnosis, and how is it used clinically? What breast cancer prevention strategies are appropriate for a mutation carrier who has not yet developed breast cancer?" Readers who would like to contribute to the discussion can respond to JAMA by May 29. Selected answers will be posted online in the June 1 issue of the journal.

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.