Colorectal Cancer

Study : Cancer risk associated with inherited mutations in Lynch syndrome genes

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: People with Lynch syndrome mutations

Lynch syndrome is the most common inherited cause of cancer affecting about 1 in 300 people. People with Lynch syndrome have an increased risk of colorectal endometrial and other cancers. A large study followed people with mutations in the Lynch syndrome genes MLH1, MSH2, MSH6 and PMS2 to determine the risk of other types of cancer. (2/21/20)

Study : LGBTQ patients recommend improvements for their cancer care

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: LGBTQ cancer patients and their healthcare providers.

Very little research has focused on the cancer care experiences of lesbian, gay, bisexual, transgender and queer (LGBTQ) people. This study looks at recommendations from the LGBTQ community for improving their cancer care. (6/20/19)

Article : The importance of racial diversity in clinical trials

Relevance: High

Quality of Writing: High

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Most relevant for: People who are a member of a racial or ethnic minority group

This article by journalists Caroline Chen and Riley Wong looks at racial disparities between participation in clinical trials and the population of people with cancer. (11/6/18)

Este artículo está disponible en español.

Study : Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations

Relevance: Medium

Strength of Science: Medium

Research Timeline: Human Research

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Most relevant for: People who are considering or have had direct-to-consumer testing

A clinical genetic testing laboratory examined results from direct-to-consumer genetic testing ordered directly by patients. They found many instances of false positives—reported mutations that were not actually present—and in some cases, reports of variants that "increased risk," but were actually benign. This study emphasized the importance of involving genetics experts in the interpretation of genetic test results. (6/28/18)

Study : Mutations in Lynch syndrome genes MSH6 and PMS2 may be associated with breast cancer

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: Women with an MSH6 or PMS2 mutation

Some women with mutations in MSH6 and PMS2, two Lynch syndrome genes, may have a modest (2 to 3-fold) increased risk for breast cancer. (6/14/18 updated 09/25/19)

Study : Cancer “vaccine” injected directly into tumors works in mice

Relevance: Medium-Low

Strength of Science: Medium-Low

Research Timeline: Animal Studies

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Most relevant for: People with advanced cancers

Immunotherapy is treatment that uses the immune system to fight cancer. Still in its infancy, it is a promising therapy that is changing how certain cancers are treated. A new study reports that tumors in lab mice were eliminated when they were injected with two immune system-enhancing agents. This new approach is called in situ (at the original site) vaccination because the injections are given directly into the tumors. It worked on several different types of mouse tumors, including lymphomas and breast tumors. This approach may be safer than conventional immunotherapy because it uses very low doses of the agents and it does not require tumors to have particular markers. (02/23/18)

Study : Genetic counseling by phone or face-to-face

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: People referred to a genetic counselor or those considering genetic testing

Results presented at the 2017 American Psychological Association’s annual meeting showed genetic counseling by telephone is as “safe and effective” in long-term psychological and social outcomes compared to traditional in-person counseling for women at risk for hereditary breast and ovarian cancer. This presentation is an update on research published in 2014. (11/29/17)

Article : Preimplantation genetic diagnosis and hereditary cancer

Relevance: Medium-High

Quality of Writing: High

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Most relevant for: people with an inherited mutation linked to cancer risk

Andrew Joseph’s piece for STAT, “A baby with a disease gene or no baby at all: Genetic testing of embryos creates an ethical morass,” focuses on  preimplantation genetic diagnosis (PGD) and the emerging ethical issue in the field of reproductive medicine: What to do when patients seeking to get pregnant select embryos with DNA that could lead to a disease or a disability.  (11/8/17)

Article : Mixed reviews of at-home genetic testing

Relevance: Medium

Quality of Writing: Medium-High

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Most relevant for: People who are considering or have had direct-to-consumer testing

National guidelines recommend that patients meet with a genetics expert before undergoing genetic testing for cancer risk. Genetic counseling can help patients decide whether genetic testing is right for them and order the most appropriate test. Once test results are available, genetics experts also help patients understand their results. Over the last decade, the popularity of direct-to-consumer (DTC) genetic testing, such as 23andMe has grown. Some genetic tests are marketed to consumers on television, in print advertisements, and on the Internet. These “at-home” genetic tests give people direct access to their genetic information without first involving a healthcare provider in the process. A recent report outlines the benefits and limitations of DTC genetic testing. (10/20/17)

Article : Parents face challenges when deciding the best time to tell children that they may be at high risk for cancer

Relevance: Medium-High

Quality of Writing: High

Most relevant for: Parents who have an inherited gene mutation

When certain types of cancers run in families, genetic testing can determine whether the cause is hereditary. Genetic testing can help family members understand their cancer risk and make medical decisions to stay healthy. A test result can provide significant insight, but it also creates challenges for parents, because gene mutations that cause hereditary cancers can be passed from mothers and fathers to sons and daughters. People with these mutations must make difficult decisions about when to tell their children that they too may have inherited the mutation. (8/22/2017)