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Let’s Discuss - Expanding Lynch Syndrome Screening: From Research to Reality

Our R2R March 2017 cyber-seminar introduced many of us to a specific genetic disorder - Lynch syndrome - that increases risk for certain types of cancer, including colorectal, endometrial (uterine), ovarian, and stomach cancer. Dr. David Chambers’ reflection on the NCI-hosted workshop on “Approaches to Blue Ribbon Panel Recommendations: The Case of Lynch Syndrome” was followed by three engaging presentations detailing current work on Lynch syndrome screening practices from Ms. Heather Hampel, Dr. Greg Feero, and Ms. Debra Duquette.

Now we want to invite you to join the discussion and share your perspective!

  • Do you have questions for any of our presenters?
  • Does your own work relate to Lynch syndrome? Do you have any “lessons learned” or best practices to share?
  • What are some of the challenges and opportunities you see in regards to Lynch syndrome screening practices? How can we address these issues?

We look forward to reading your responses and continuing the conversation!

 

Jordan

from the R2R team


Posts/Comments

I am one of six sisters and

I am one of six sisters and five of us have been diagnosed with Lynch. Four of our childen have been tested and two of the four have been diagnosed with Lynch. Are there any clinical studies that may be of interest to us or to you?

I am not aware of any studies

I am not aware of any studies open right now for patients with Lynch syndrome but you might want to check clinicaltrials.gov just in case. Your family can enroll in the HEROIC (Hereditary Cancer Research Champions) registry at http://aliveandkickn.org/heroic-registry . This registry is going to try to help connect individuals with Lynch syndrome with open research studies. 

What a great session - and a

What a great session - and a good build-up today's Lynch Syndrome Awareness Day!  In addition to the questions on the webinar, we also received a question from Jana Sullinger which we did not have time to address.

Jana asked: Should screening on endometrial cancers include those which are non-invasive of myometrium?

Women with Lynch syndrome are

Women with Lynch syndrome are at increased risk for endometrial cancers but not for non-invasive endometrial or myometrium tumors such as fibroids. As a result, screening using endometrial biopsies is targeted toward the early diagnosis of endometrial cancer. Some women with Lynch syndrome decide to have risk-reducing hysterectomy with bilateral salpingo-oophorectomy (removal of their uterus, ovaries and fallopian tubes) to maximally reduce their risk for endometrial and ovarian cancer. This would also serve as treatment for or prevention of non-invasive tumors of the myometrium.

Followers of this discussion

Followers of this discussion may be interested to see that the U.S. Preventive Services Task Force posted today a final research plan on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. The draft research plan for this topic was posted for public comment from March 16, 2017 to April 12, 2017. The Task Force reviewed all of the comments that were submitted and took them into consideration as it finalized the research plan.

To view the final research plan, please go to https://www.uspreventiveservicestaskforce.org/Page/Document/final-research-plan/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing1.

Figure 1 is a flow diagram of risk assessment, genetic counseling, and genetic testing. Women with unknown BRCA mutation status, including women who have a previous diagnosis of breast or ovarian cancer but have completed treatment, are assessed for BRCA mutation risk. These women may experience adverse effects as they are determined to have either no increased risk or increased risk for BRCA mutations. Women with an increased risk are referred for genetic counseling, during which they may experience adverse effects. Following genetic counseling, women are determined to have either no increased risk or increased risk for BRCA mutations. Women with an increased risk are referred for genetic testing, during which they may experience adverse effects. Women with increased risk for BRCA mutations may be referred directly to genetic testing, with no genetic counseling prior to testing. Testing may be done on the index patient, a relative with cancer, or a relative with highest risk, as appropriate. Women who undergo genetic testing may have benign results or likely benign, or they may have a result that is pathogenic, likely pathogenic, or of uncertain significance. Women may undergo posttest counseling, which includes interpretation of results, determination of eligibility for risk-reducing interventions, and patient decisionmaking. Women eligible for risk reduction may be referred for interventions, which may include increased early detection through intensive screening (earlier and more frequent mammography, breast MRI), risk-reducing medications (aromatase inhibitors, tamoxifen), and risk-reducing surgery (mastectomy, salpingo-oophorectomy). Women who undergo interventions may experience adverse effects. Women who undergo interventions may also have reduced incidence of BRCA-related cancer and reduced cause-specific and all-cause mortality.

aClinically significant pathogenic mutations in the BRCA1 and BRCA2 genes associated with increased risk for breast cancer, ovarian cancer, or both.
bIncludes women who have a previous diagnosis of breast or ovarian cancer but have completed treatment.
cPretest genetic counseling, scope of services, and appropriate providers are described in the text.
dGenetic testing may be done on the index patient, a relative with cancer, or a relative with the highest risk for cancer, as appropriate.
ePosttest counseling includes interpretation of results, determination of eligibility for risk-reducing interventions, and patient decisionmaking.
fRisk-reducing interventions include early detection through intensive screening (earlier and more frequent screening, use of additional screening methods), use of risk-reducing medications (aromatase inhibitors, tamoxifen, raloxifene), and risk-reducing surgery (mastectomy, salpingo-oophorectomy, other procedures) performed for preventive purposes.

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