Categories Genetic Testing, Prevention

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.

Update : A breast cancer vaccine for people with an inherited BRCA1, BRCA2 or PALB2 mutation

Relevance: Medium

Research Timeline: Human Research

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Most relevant for: People at increased risk for breast cancer undergoing prophylactic bilateral mastectomy due to an inherited mutation in BRCA1, BRCA2 or PALB2. People with TNBC who still have breast cancer after chemotherapy.

A breast cancer vaccine is showing promise in early clinical trials. Initially, the vaccine was tested in people with triple-negative breast cancer (TNBC) who were at high risk for recurrence. Now the vaccine is being tested to lower breast cancer risk among people with an inherited mutation in BRCA1, BRCA2  or PALB2. It is also being tested in people with triple-negative breast cancer who are at high risk for recurrence and are taking the immunotherapy drug Keytruda (pembrolizumab) after completing chemotherapy. (Posted 1/31/24)

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 : Signs of endometrial cancer: Six survivor stories

Relevance: High

Quality of Writing: High

Most relevant for: Women who want to learn more about the signs of or are at risk for endometrial cancer.

This article shares the experiences of six women diagnosed with endometrial cancer. It highlights the most common signs of endometrial cancer.  (Posted 11/16/23)

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.

Topic : Reducing ovarian cancer risk without removing the ovaries

Relevance: Medium-High

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Most relevant for: People who are not at high risk of ovarian cancer who are having pelvic surgery

A leading ovarian cancer organization has recommended that all women who have pelvic surgery should also consider removing their fallopian tubes to reduce their risk of ovarian cancer. (Posted 7/18/23)

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.