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Genetic Mutations Linked to Higher Risk of Secondary Breast Cancer in Dense Breasts

Women who have had breast cancer in one breast may be at a higher risk of developing it in the other if they carry specific genetic mutations, according to new research published in JAMA Network Open. The study surveyed 1,858 women ages 40 to 76 years from 2019 to 2020 who reported having recently undergone mammography, had no history of breast cancer and had heard of breast density.[0]

Those with dense breasts have more fibrous and glandular tissue when compared to fatty tissue, which can be seen on a mammogram.[1] Approximately half of women who have mammograms show this as a typical and usual result.[1]

When questioned regarding potential measures to lower their risk of breast cancer, approximately one-third of women responded that they were uncertain if such a thing was achievable, or they were not cognizant of the available options.[2] While current screening guidelines recommend women of average risk of breast cancer undergo breast cancer screening every one to two years between ages 50 to 74 with the option of beginning at age 40, experts have not yet firmly suggested women with dense breasts should receive additional screening, according to the Recommendation Statement on Breast Cancer Screening by the US Preventive Services Task Force.[2]

In 38 states, women must be given written notification concerning their breast density and the associated breast cancer risk after having a mammogram. However, research has demonstrated that many women struggle to understand this information.[3]

A cohort of 15,104 women, representative of the average breast cancer patient population, with genetic predisposition to the disease were studied by the researchers. The mean age at initial breast cancer diagnosis was 62 years, and the mean follow-up duration was 11 years.[4] Researchers were able to ascertain how many people had experienced a recurrence of breast cancer, as well as the estimated risk related to each gene alteration.[4]

People who have the PALB2 gene only face an increased risk of being diagnosed with estrogen receptor negative (ER negative) breast cancer, a type which does not rely on the hormone estrogen for growth.[4] No evidence was found that the ATM gene increases the chance of developing contralateral breast cancer.[4] The risk for certain carriers of the PALB2 gene was contingent on other factors.[4] The investigators discovered that those with estrogen receptor-negative cancer were at a significantly increased risk of having cancer in both breasts.

0. “Many women underestimate breast density as a risk factor for breast cancer, study shows” KTBS, 23 Jan. 2023,

1. “Breast cancer symptoms: Women unaware that breast density is an increased risk factor” The Independent, 28 Jan. 2023,

2. “Research Gives Clues to Why Cancer in One Breast Could Develop in the Other” News-shield, 24 Jan. 2023,

3. “Don’t Underestimate Breast Density as a Cancer Risk” Moffitt Cancer Center, 23 Jan. 2023,

4. “Study Links Genetic Changes to Higher Risk of Cancer in Both Breasts”, 26 Jan. 2023,

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