Hereditary Cancer Risk

Topic : The drug Enhertu is FDA-approved for any advanced or metastatic HER2-positive tumors

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

Most relevant for: People with advanced HER2-positive cancer

The FDA granted accelerated approval of Enhertu for people with any HER2-positive tumor that is metastatic or cannot be surgically removed. Eligible patients must have had previous treatment such as chemotherapy or hormone therapy. (Posted 7/19/24)

Study : Yearly breast MRI screening improves outcomes for women with inherited BRCA mutations

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: People with a BRCA1 or BRCA2 mutation who are considering breast MRI screening

An international research study of yearly breast MRI screening among women with BRCA1 and BRCA2 gene mutations found that BRCA1 carriers who had MRI screenings were less likely to die of breast cancer than those who did not. Additional studies with more BRCA2 mutation carriers are needed to determine if yearly breast MRIs reduce deaths from breast cancer in this group. (Posted 6/24/24)

Study : Ovary removal reduces risk of death from any cause in people with BRCA mutations

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: People who have had a risk reducing bilateral oophorectomy

People who test positive for an inherited BRCA1 or BRCA2 mutation can reduce their risk of ovarian cancer by having both ovaries and fallopian tubes removed. A study published in 2024 found an added benefit of this surgery – a lower risk of death from any cause by age 75. (Posted 5/23/24)

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

View Related Clinical Trials

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.

Study : Benefit of pancreatic cancer screening

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: People with an inherited BRCA1 or BRCA2 mutation

Among people with an inherited mutation in a BRCA1 or BRCA2 gene, screening for pancreatic cancer found most cancers at an earlier stage when they could be treated by surgery. Posted 1/17/24)

Este artículo está disponible en español.

Study : Genes, genetic counseling and disparities in endometrial cancer

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: People diagnosed with endometrial cancer

Endometrial cancer is on the rise, and it can run in families. Genetic counseling has benefits for people with cancer and their family members. However, Black women with endometrial cancer more often have worse outcomes than white women.  Black women with endometrial cancer who test positive for an inherited mutation are less likely to see a genetic counselor. Given these disparities, Black women would benefit from better access to and referrals for genetic counseling. (Posted 12/14/23)

Este artículo está disponible en español.