Keyword: genetic testing

Personal Story : Living a full life with Li-Fraumeni syndrome

Relevance: Medium

Most relevant for: People with Li-Fraumeni syndrome

This XRAY review is about a five-time cancer survivor who has an inherited mutation in the TP53 gene. People with inherited mutations in TP53 have Li-Fraumeni syndrome, which is linked to a very high lifetime risk for many types of cancer. Here we share his inspiring story and provide more information on Li-Fraumeni syndrome. (Posted 4/16/24)

Study : Genetic testing among people with cancer can find mutations that may affect treatment and prevention

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: People diagnosed with cancer who have not yet had genetic testing

Despite national guidelines recommending genetic testing, less than 10 percent of eligible patients had genetic testing within two years after their cancer diagnosis. Among those who had testing, 10-30 percent had an inherited mutation that could affect their medical care. (Posted 3/15/2024)

Study : Genes linked to aggressive prostate cancer

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: People diagnosed with advanced prostate cancer

Previous research has linked some inherited mutations to prostate cancer risk. This study found a link to additional genes that should be added to prostate cancer gene panel tests. The study also looked at which genes were most closely linked to aggressive prostate cancer that is more likely to spread. (Posted 2/1/24)

Este artículo está disponible en español.

Study : H. pylori bacteria infection and risk of stomach cancer in mutation carriers

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: People who are at increased risk for stomach cancer due to an inherited mutation.

The results of a study in Japan show that people with a bacterial infection called H. pylori and an inherited mutation in an ATM, BRCA1, BRCA2 or PALB2 gene have a high risk of stomach cancer.   (Posted 1/19/24)

Este artículo está disponible en español.

Article : Breast cancer risk for transgender women with inherited mutations

Relevance: Medium

Most relevant for: Transgender women with inherited mutations who are considering or have had gender affirming care

There has been little research on breast cancer risk for transgender women who are at high risk for breast cancer due to an inherited mutation. This review summarizes what we know. (Posted 11/29/23)

Este artículo está disponible en español.

Article : Genetic testing and the future of medicine

Relevance: High

Quality of Writing: Medium-High

Most relevant for: People interested in genetic testing.

An article published in Katie Couric Media discusses genetic testing and how it can impact health. The author talked with Dr. Robert Steiner, a doctor who specializes in genetics. He talked about genetic testing and how the results can affect health and change lives. (Posted 9/28/23)

Este artículo está disponible en español.

Study : Breast cancer disparities among the LGBTQ+ community

Relevance: Medium-High

Strength of Science: High

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Most relevant for: People belonging to the LGBTQ+ community

This study looked at differences in breast cancer treatment outcomes among people from the LGBTQ+ community.  (Posted 6/28/23)

Este artículo está disponible en español.

Article : A food lover’s decision to remove her stomach highlights difficult decisions around cancer risk

Relevance: High

Quality of Writing: High

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Most relevant for: People with a CDH1 mutation or a family history of stomach cancer

National Public Radio reporter Sáša Woodruff shares her story of learning about her CDH1 mutation and making a decision about risk-reducing surgery. Mutations in the CDH1 gene significantly increase a person’s risk of stomach and breast cancers. Woodruff’s personal essay describes the psychological challenge of making decisions about risk-reducing surgeries and draws attention to a lesser-known mutation linked to hereditary cancer. (Posted 5/17/23)

Este artículo está disponible en español.

Study : Promising early results for treating metastatic prostate cancer

Relevance: Medium-High

Strength of Science: High

Research Timeline: Human Research

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Most relevant for: People with metastatic castration-resistant prostate cancer (mCRPC)

The TALAPRO studies looked at how well the oral drug Talzenna (talazoparib) works as a treatment for metastatic castration-resistant prostate cancer (mCRPC). The addition of Talzenna to treatment with Xtandi (enzalutamide) increased the time until the cancer got worse or came back (progression-free survival). The greatest benefit was seen in people who had an inherited or tumor mutation in a gene that repairs DNA damage (such as ATM, BRCA1, BRCA2 and others). (Posted 3/1/23)

Update: On June 20, 2023, the Food and Drug Administration (FDA) approved the combination of Talzenna with Xtandi as an initial treatment for some people with mCRPC for people with inherited or tumor mutations in genes that repair DNA damage. 

Este artículo está disponible en español.

Study : Male breast cancer: Patient and surgeon experiences

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

Most relevant for: Men with breast cancer

By surveying male breast cancer patients and the surgeons who treat them, researchers gained insight into the experiences of both groups, shedding light on an important issue for men with breast cancer. (Posted 12/22/22)

Este artículo está disponible en español.