Category Archives: Genetic Testing

Young Women With Breast Cancer Are Increasingly Being Tested For BRCA Mutations

percent_cancer_riskUS News & World Report (2/11, Esposito) reports that research published online in JAMA Oncology indicates “testing for BRCA1 and BRCA2 gene mutations, which significantly increase a woman’s risk of getting breast cancer and ovarian cancer, is on the rise among women ages 40 and under who’ve been diagnosed with breast cancer.”

HealthDay (2/11, Norton) reports that investigators “found that of nearly 900 women who developed breast cancer at age 40 or younger, most had undergone BRCA testing within a year of their diagnosis.” The data indicated that “the percentage went up over time: By 2013, 95 percent had been tested.”

The Cancer Network (2/11, Levitan) reports that the researchers “noted that the high frequency of testing in this cohort likely reflects the fact that most women were insured, educated and treated at major cancer centers.”

Some Tumor Samples In MATCH Trial Found To Be Low-Quality

This article leads in with “Shoddy biopsies deny cancer patients a shot at personalized treatment”. Biopsy samples taken from patients with advanced cancer, were collected by doctors in hundreds of clinics nationwide. When researchers checked them, they found as many as 1 in 5 didn’t have enough malignant cells to analyze, in most cases because the biopsy had been poorly done. This glitch raises troubling questions about the new era of precision medicine. The article goes on to report “biopsies done in rural or community centers were more likely to be shoddy”. Those patients’ tumors couldn’t be analyzed and they couldn’t be matched with medicines targeted at their specific genetic mutations. And that suggests that access to the most advanced, customized cancer treatments might be highly unequal — and dependent on the quality of the local doctors performing biopsies. Perhaps “shoddy” is a strong word when trying to balance the need of being minimally invasive to arrive at a tissue diagnosis versus having enough tissue/tumor cells for additional molecular analysis.  Larger biopsies carry the risk of more potential complications while less invasive procedures that may be sufficient for accurate grading/staging may be insufficient for downstream analysis.

STAT reported that the MATCH trial, launched last year by the National Cancer Institute, “has run into an unexpected roadblock: Many of the tumor samples aren’t robust enough to be put through genetic analysis.” According to STAT, the issue “raises troubling questions about the new era of precision medicine.” The article pointed out that though interventional radiologists usually aim to take as small a biopsy as possible to avoid infection and other risks, “only larger and more invasive biopsies can provide the type of genetic information needed for personalizing therapy.” Dr. Michael Thompson, incoming chair of the Community Research Forum Council at the American Society of Clinical Oncology, said, “You have these competing issues of trying to minimize toxicity from the procedure and trying to get optimal tissue.”

“Personalized medicine” for years to come will be forced to deal with “diagnostically” suitable tissue samples versus “more tissue for molecular analysis”.

Read more here.

ASCO Breast Cancer Symposium 2015 News Roundup

MRI improved breast cancer detection in average risk women

Oncology Practice reports that research suggests that “MRI-screening may improve the detection of biologically relevant breast cancer in women who are at average-risk, and reduce the interval-cancer rate down to 0%, at a low false-positive rate.” In the “cohort of heavily pre-screened women at average risk, the additional cancer yield achieved through MRI was high, at 15.8 cases per 1,000 women screened, and the added cancers diagnosed by MRI tended to be of high nuclear grade.” The findings were presented at the 2015 ASCO Breast Cancer Symposium.

Use Of Aromatase Inhibitors In The Adjuvant Setting May Delay Development Of Contralateral Breast Cancer

Oncology Practice reports that research suggests “the use of aromatase inhibitors (AIs) in the adjuvant setting appears to delay the development of contralateral breast cancer.” The “effect was particularly prevalent among breast cancer patients who were BRCA positive.” The research was presented at the 2015 ASCO Breast Cancer Symposium.

Age At Biopsy and Number Of Atypical Hyperplasia Foci May Be Good Predictors Of Risk For Subsequent Breast Cancer

Oncology Practice reports that research suggests that “a woman’s age at biopsy and the number of atypical hyperplasia foci appear to be good predictors of risk for subsequent breast cancer.” The “review of pathology records and medical history on more than 13,000 women with benign breast disease showed that a predictive model including age and atypia effectively identified those women with atypical hyperplasia at highest risk for developing breast cancer.” The findings were presented at the ASCO Breast Cancer Symposium.

Radiotherapy not needed for all women post mastectomy

Oncology Practice reports that research suggests that “postmastectomy radiotherapy should not be routinely recommended for breast cancer patients with microscopic nodal metastases (N1mic) and T1-2 tumors.” Investigators found that “in patients with T1-2, N1 disease who were treated with standard therapies, the study authors found that overall, there were low rates of locoregional failure.” The findings were presented at the 2015 ASCO Breast Cancer Symposium.

Many women with triple-negative breast cancer aren’t screened for BRCA

Oncology Practice reports that research indicates that “many younger women diagnosed with triple-negative breast cancers do not get tested for BRCA, despite guideline recommendations.” Researchers found that “among 173 women with triple-negative tumors – lacking the HER2, estrogen and progesterone receptors –17% of those who should have been tested for BRCA according to National Comprehensive Cancer Network (NCCN) guidelines, were not tested.” The findings were presented at the ASCO Breast Cancer Symposium.

Black Women May Be More Likely To Develop Aggressive Forms Of Breast Cancer Than White Women

HealthDay (9/22) reports that research suggests that “black women are more likely to develop aggressive forms of breast cancer than white women because of genetic differences in the tumors.” Prior research has indicated that “compared with white women, black women have a higher prevalence of breast cancers that do not respond to hormone therapy – so-called ‘triple-negative’ breast cancers.” The new study indicates that “black breast cancer patients also have a ‘significantly higher prevalence of the TP53 driver mutation, basal tumor subtype and greater genomic diversity within tumors, all of which suggest more aggressive tumor biology,’ the study’s lead author, Dr. Tanya Keenan said in a news release.” The findings were published online in the Journal of Clinical Oncology.