Hereditary 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 : Impact of breast cancer and BRCA mutations on fertility preservation

Relevance: Medium

Strength of Science: Medium

Research Timeline: Post Approval

Most relevant for: People considering fertility preservation.

Timely family planning discussions are important for people diagnosed with breast cancer as well as those who have an inherited a BRCA1 or BRCA2 mutation. This study looked at the number of mature eggs recovered when ovaries were stimulated for fertility preservation or preimplantation genetic testing among three groups and found that the number of eggs collected was similar. (Posted 10/31/24)

Este artículo está disponible en español.

Study : More research points to the benefits of pancreatic cancer screening

Relevance: Medium

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: People undergoing pancreatic cancer screening

People with a family history of pancreatic cancer or those who have an inherited mutation that increases risk may benefit from yearly pancreatic cancer screening. Yearly screening may lead to early diagnosis and longer survival. (Posted 10/8/24)

Este artículo está disponible en español.

Study : Use of cannabis for cancer symptom management

Relevance: Medium-High

Strength of Science: Medium-High

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Most relevant for: People with cancer interested in using cannabis to help manage symptoms.

Among people with cancer, interest in the use of cannabis to manage cancer symptoms and treatment side effects is high. The world's leading professional organization of oncologists has published strategies to help adults with cancer and their healthcare providers have open, nonjudgmental discussions about the use of cannabis to manage cancer symptoms. (Posted 9/27/24)

Este artículo está disponible en español.

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.

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)

Este artículo está disponible en español.

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)

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.