Categories Cancer Risk

Study : Lifetime cancer risks in people with an inherited mutation in CDH1

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

Most relevant for: People with an inherited mutation in CDH1

This study looked at the lifetime risks of stomach and breast cancer in families with a known CDH1 mutation. Results from the study suggest that for some CDH1 mutation carriers lifetime stomach cancer risk is lower than previous research has shown. Additionally, study results show that the lifetime risk of breast cancer is similar to previous lifetime risk estimates in women with mutations in this gene. (Posted 12/10/24)

Article : Life with a high-risk pancreatic and melanoma cancer mutation

Relevance: Medium

Quality of Writing: High

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Most relevant for: People with an inherited mutation in CDKN2A

One woman seeks genetic testing after her sister died of pancreatic cancer. Despite how her family’s mutation in the CDKN2A gene resulted in multiple cancer diagnoses and deaths and a suspicious finding during her own pancreatic cancer screening, Amarensia Spruitenburg shares a message of hope and gratitude. By telling her story, Amarensia highlights the impact that hereditary cancer can have on families.  (Posted 11/22/24)

Study : Colorectal cancer in people with Lynch syndrome can include types of cancer found more typically in people without Lynch syndrome

Relevance: Medium-High

Strength of Science: Medium-High

Most relevant for: People with Lynch syndrome and people with colorectal cancer who may have Lynch syndrome

When people with Lynch syndrome (LS) develop cancer, their tumors typically have a related set of features or biomarkers known as deficient mismatch repair (dMMR) and high microsatellite instability (MSI-High). However, occasionally people with Lynch syndrome have cancers that are proficient in mismatch repair (pMMR or MMR-P) and have microsatellite stability (MSS or MSI-Low) –more like the colorectal cancers found in people without Lynch syndrome. This study shows that 10 percent of people with Lynch syndrome may have these types of cancers. This can change treatment recommendations. (Posted 9/5/24)

Este artículo está disponible en español.

Study : Skin cancer among women with an inherited BRCA mutation

Relevance: Medium-High

Strength of Science: Medium

Research Timeline: Human Research

Most relevant for: People with an inherited BRCA mutation

Women with an inherited BRCA1 and BRCA2 mutation have an increased risk of various cancers. Study results suggest that although the risk of non-melanoma skin cancer in these women is similar to the risk of the general population, the risk of melanoma skin cancer is slightly increased. (Posted 7/25/24)

Este artículo está disponible en español.

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)

Este artículo está disponible en español.

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)

Este artículo está disponible en español.

Study : Estrogen without progesterone for hormone replacement may lower breast cancer risk

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: Postmenopausal people on hormone replacement therapy

Women with average breast cancer risk who took estrogen without progesterone after menopause had lower rates of breast cancer than those who did not take any hormone replacement. This finding comes from studies looking at the safety of the use of estrogen alone as hormone replacement therapy. (Posted 2/13/24)

Este artículo está disponible en español.

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.

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.