Multigene Testing Replacing BRCA Tests for Breast Cancer Risk

Excerpt:

“The use of genetic tests aimed at detecting the presence of mutations in the BRCA1 and BRCA2 genes in women with breast cancer is rapidly declining in favor of tests that can detect multiple cancer-associated mutations, according to researchers at the Stanford University School of Medicine and five other U.S. medical centers.

“Some researchers had wondered whether multigene testing, which may identify genetic mutations of uncertain clinical significance, would lead more women to consider prophylactic mastectomies — a surgery in which both breasts are removed to prevent future cancers — out of an abundance of caution. However, the current study did not show an increase in mastectomies associated with testing more genes.”

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Targetable Mutations in NSCLC: More Testing Needed!


Diagnosis of adenocarcinoma of the lung, a major subtype of non-small lung cancer (NSCLC), nowadays triggers mandatory testing of tumor tissue for alterations in four genes: EGFR, ALK, ROS1, and more recently, BRAF. If present, these alterations predict sensitivity to specific targeted drugs approved by the U.S. Food and Drug Administration (FDA) that work better and often longer than standard chemotherapy, and are better tolerated.

However, there are many more targetable/actionable genomic alterations (also known as “drivers”) in NSCLC. This blog post will briefly discuss most of them, with the goal of promoting molecular testing for more than the four “usual suspects” mentioned above. Some patients with these alterations may benefit from FDA-approved drugs or from enrollment in clinical trials that are testing additional drugs and drug combinations. Continue reading…


For Now, Sequencing Cancer Tumors Holds More Promise Than Proof

Excerpt:

“People diagnosed with cancer understandably reach for the very best that medical science has to offer. That motivation is increasingly driving people to ask to have the DNA of their tumors sequenced. And while that’s useful for some malignancies, the hype of precision medicine for cancer is getting far ahead of the facts.

“It’s easy to understand why that’s the case. When you hear stories about the use of DNA sequencing to create individualized cancer treatment, chances are they are uplifting stories. Like that of Ben Stern.”

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Recommendations for Genetic Counseling, Genetic Testing for Hereditary Prostate Cancer

Excerpt:

“To date, there have been few recommendations to guide physicians about when to offer men genetic consultation for prostate cancer risk. Now, an international and inter-specialty panel of experts convened at the Sidney Kimmel Cancer Center (SKCC) at Thomas Jefferson University have developed a comprehensive set of recommendations. This consensus statement, published December 13th in the Journal of Clinical Oncology, will help physicians and stakeholders make sense of a rapidly evolving field of practice.”

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FDA Approves First-of-a-Kind Test for Cancer-Gene Profiling

Excerpt:

“U.S. regulators have approved a first-of-a-kind test that looks for mutations in hundreds of cancer genes at once, giving a more complete picture of what’s driving a patient’s tumor and aiding efforts to match treatments to those flaws.

“The U.S. Food and Drug Administration approved Foundation Medicine’s test for patients with advanced or widely spread cancers, and the Centers for Medicare and Medicaid Services proposed covering it.

“The dual decisions, announced late Thursday, will make tumor-gene profiling available to far more cancer patients than the few who get it now and will lead more insurers to cover it.”

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Petrylak Discusses Significance of Genetic Testing in Prostate Cancer

Excerpt:

“The 2017 Philadelphia Prostate Cancer International Consensus was recently held at the Sidney Kimmel Cancer Center of Thomas Jefferson University. The theme of this year’s meeting was The Role Of Genetic Testing For Inherited Prostate Cancer Risk.

” ‘Genetics is the way of the future for patients with prostate cancer,’ said steering committee co-chair Daniel Petrylak, MD.

“In an interview with OncLive at the meeting, Petrylak, professor of Medicine and Urology, co-director, Signal Transduction Research Program, Yale School of Medicine, discussed the significance of genetics in the future of prostate cancer care and highlighted emerging treatments and challenges in the field.”

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One Patient, Two Cancer DNA Tests, Two Different Results

Excerpt:

“A couple years ago, Sibel Blau, an oncologist outside of Seattle, was working with the company Guardant Health to test their novel ‘liquid biopsies’ in patients. The idea behind liquid biopsies is both elegant and promising. A doctor takes a blood sample from a patient, and then Guardant looks for tumor DNA floating in the blood, allowing doctors to identify the tumor’s unique mutations and offer a personalized drug regimen—all without an invasive tissue biopsy. Blau was excited to be on board.

“When that study wrapped up, Blau still had Guardant test kits left over, so she offered some to her patients at no cost to them. At this point, Blau was routinely ordering DNA sequencing of traditional tissue biopsies, so some patients got both tests. The tissue DNA test from Foundation Medicine was “routine” in her practice, but even that test had only become available in 2012. The field of cancer DNA has been changing fast.”

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70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer

Excerpt:

“This was a randomized phase III trial including 6693 women with early-stage breast cancer designed to assess whether patients at high clinical risk (via Adjuvant! Online) and low genomic risk (via MammaPrint) would have similar metastasis-free survival if treated without chemotherapy. A total of 1550 patients (23.2%) were deemed to be at high clinical risk and low genomic risk. No significant difference in the 5-year metastasis-free survival rate was noted in women who received chemotherapy compared with those who did not (95.9% vs 94.7%).

“These findings suggest that nearly half of women at high clinical risk may not need chemotherapy for breast cancer.”

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New Research Takes Aim at Deadliest Form of Breast Cancer

Excerpt:

“Forget the pink ribbons. Spitting in a tube for science is what unites a growing group of breast cancer patients taking part in a unique project to advance treatment for the deadliest form of the disease.

“For many of the 150,000-plus patients nationwide whose tumors have spread to bones, brains, lungs or other distant organs, the hue heralding breast cancer awareness and survival each October is a little too rosy. They know cancer will likely kill them. And they’ve often felt neglected by mainstream advocacy and medical research.”

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