Research & Clinical Trials

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Research & Clinical Trials > Research Findings > Highlights from 2016 ASCO Conference

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Highlights from the 2016 ASCO National Meeting

by Julie Huynh, MS

Patient experiences with multigene panel tests

The use of multigene panels is increasing. Instead of looking only at the BRCA genes to explain increased cancer risk in families, health care providers are now looking at up to 40 different genes associated with hereditary cancer. Adding on these gene mutations means greater benefit for patients—health care providers are able to find more mutations in patients that help to explain their cancer risk. But with more information comes more uncertain results. While some genetic changes are clearly pathogenic (disease causing) or benign (not disease causing), some are not so clear; these changes are called “variants of uncertain significance,” and researchers and health care providers do not know how to best interpret them.

Allison Kurian, MD, and her colleagues from Stanford University Cancer Institute and other institutions started a study to determine whether multigene panel testing causes distress or inappropriate interventions for patients. They began this study in August 2014 with a goal of enrolling 2,000 patients. They are using a 25-gene panel that includes BRCA, ATM, CDH1, CHEK2, PTEN, PALB2, and all of the genes associated with Lynch syndrome (EPCAM, MSH2, MSH6, PMS2, and MLH1).  

While the study is ongoing (they have not yet enrolled 2,000 patients), the researchers presented interim results with information from 1,000 patients. Their study population is diverse—about 38% white, about 40% Hispanic and about 13% Asian. Approximately 75% of the study population has a personal history of cancer (about 38% are breast cancer cases).

Kurian and the other researchers found that there is very little evidence of harm in women who have multigene panel testing—the rate of patients undergoing prophylactic surgery were low, and few patients had intrusive thoughts. Additionally, patients who were found to carry a pathogenic mutation appropriately notified their relatives to get testing. However, a ilmitation of the study is that the researchers’ follow-up time (about 3 months) is relatively short, so it is unknown if a greater increase will occur in patient distress or the number of women who will undergo prophylactic surgery.

What are the disparities in BRCA testing across different ethnicities?

Many studies emphasize that black women are less likely to be tested for BRCA mutations than white women, even though the chance of carrying a mutation is at least as high for a black woman as it is for a white woman.

Tuya Pal, MD, and her colleagues from Moffitt Cancer Center presented results from their study comparing the uptake of BRCA testing in women of different races and ethnicities.  The study included 440 black women, 284 Hispanic women, and 897 white women. These women were diagnosed with invasive breast cancer at age 50 or younger from 2009 to 2012.  

Looking at genetic testing, the researchers found that:

  • 36% of black women had testing, with 18% positive for a BRCA mutation.
  • 62% of Hispanic women had testing, with 7% positive for a BRCA mutation.
  • 65% of white women had testing, with 9% positive for a BRCA mutation.

Of the women who were positive for BRCA mutations, 32% of black women underwent risk-reducing removal of their ovaries and fallopian tubes, compared to 85% of Hispanic women, and 71% of white women. However, this study had limitations, including a small sample size and events since 2013, such as the Affordable Care Act and new technological advances, that may change the results of this study

Ultimately, this study suggests that black women have lower rates of BRCA testing and lower rates of risk-reducing removal of ovaries and fallopian tubes when compared to white and Hispanic women.

How does risk-reducing surgery affect BRCA patients’ sexuality?

Bilateral mastectomies reduce breast cancer risk by about 95 to 97%, while oophorectomies reduce ovarian cancer risk by about 80 to 90%. The majority of BRCA patients choose to have risk-reducing surgery (mastectomy and/or oophorectomy). However, these surgeries may affect sexuality by decreasing libido and affecting self image.

Olga Ivanov, MD, from the Florida Hospital Cancer Institute presented her work on how risk-reducing surgery affects sexuality and libido in BRCA patients, and factors that contribute to impaired sexual activity.

Dr. Ivanov’s 763 study participants were BRCA mutation carriers recruited through Facing Our Risk of Cancer Empowered (FORCE).  Each completed an online survey questionnaire about risk-reducing surgery and its consequences, including premature menopause and libido. To study why sexual activity was decreasing, 122 BRCA mutation carriers and 26 non-BRCA mutation carriers participated in focus groups at the FORCE conference.

She found that 89% of previvors (women who are at high risk for breast cancer but have not had cancer) and 77% of cancer survivors developed premature menopause after their risk-reducing surgery. Additionally, 83% of previvors and 77% of survivors had libido or sexuality concerns.

Of the women who participated in the focus group, about 13% of non-BRCA carriers had an inactive sex life while 33% of previvors and 44% of survivors had an inactive sex life. The women that had an inactive sex life had a significantly lower quality of life and more anxiety than women with an active sex life. For the previvors and survivors, conditions that most interfered with their sex life were poor body image, vaginal dryness and loss of desire.

This study suggests that BRCA mutation carriers who undergo risk-reducing surgery experience loss of libido that may affect their quality of life and anxiety levels.

Do patients like receiving genetic test results by telephone?

The American Society of Cancer Oncology recommends patients who undergo genetic testing have both pre- and posttest counseling. For some this two-visit model causes access difficulties and patient burden.

Angela Bradbury, MD, and her colleagues at Basser Research Center for BRCA and other institutions presented results on this topic. They asked patients whether their health care providers could deliver their genetic test results by telephone, to determine whether patient outcomes differ from those involving in-person delivery of results.

All of the patients involved in the study had in-person pretest counseling. Then 401 patients received their test results over the telephone, while 418 received result in-person. The majority of the patients in the study were white women.

The researchers found that short-term distress such as anxiety was no worse for patients who got their genetic test results over the telephone compared to results delivered in person. However, it is not known if patients who received their results over the telephone had the same knowledge gains as those who received their results in person. Researchers do not know if long-term outcomes (such as a follow-up for medical management) are affected by a telephone disclosure rather than an in-person disclosure.

BRCA mutations and uterine cancer risk

Previous studies have suggested that there may be an increased in risk for uterine cancer in BRCA carriers. Dr. Yeh Lee, and colleagues from the Peter MacCallum Cancer Centre, Australia, presented a poster about their efforts to see if Australian BRCA carriers are at increased risk of developing uterine cancer compared to people in the general population.

In their study, 828 BRCA carriers were followed for about 9 years. During that time, 5 women developed uterine cancer (2 cases were to be expected in the general population), which suggests the very small risk of uterine cancer is doubled in BRCA carriers. The researchers concluded that this risk is not high enough to “support routine prophylactic hysterectomy for BRCA1 and BRCA2 mutation carriers.” However, they suggest larger studies are needed.

Results from a phase II/III clinical trial of immunotherapy with Globo H-KLH in patients with metastatic breast cancer

Globo H is a molecule found in 60% to 80% of breast cancers. A previous phase 1 trial showed that targeting Globo H using the Globo H-KLH vaccine in patients with metastatic breast cancer had an overall survival of 78%.

Hope Rugo, MD, and her colleagues from the University of California San Francisco and other institutions presented a summary of their work involving a phase II/III trial of Globo H-KLH. Phase II/III trials use more patients in the study and continue to assess the safety and effectiveness of the treatment being tested, so these researchers wanted to begin to confirm that Globo H-KLH was effective for metastatic breast cancer patients. A total of 349 patients were involved in the trial conducted in Asia and the United States: 224 received the Globo H-KLH vaccine and 124 did not.

Results suggest that after about 23 months, the Globo H-KLH vaccine did not improve progression-free survival compared to patients who did not receive the vaccine. This means that the vaccine did not help the entire group of patients live longer without their disease getting worse. However, among patients who developed an immune response from the vaccine (meaning the patients who developed protection against Globo H), progression-free survival was longer than patients who did not receive the vaccine and patients who did receive the vaccine but did not develop an immune response. Ultimately, more work needs to be done to determine if this is an effective vaccine for metastatic breast cancer patients.

How long should breast patients stay on aromatase inhibitors?

FORCE XRAYS covered the media around the ASCO presentation on the MA.17R clinical trial that looked to see if patients who had ten years of aromatase inhibitor had fewer breast cancer recurrences and developed fewer new breast cancers than patients who only had five years of aromatase inhibitor,  Read about it here

Posted 9/20/16

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