Genetic Predisposition to High-risk Breast Cancer may Require Genetic Screening

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Predicting the gene PV status may lead to better management strategies due to enhanced screening options. The present study evaluated 26,707 women over 65 years of age which included 51.5% of them with breast cancer and the rest 48.5% had no breast cancer.

‘Predisposition of older women (above 65 years of age) to late-onset breast cancer carries 10% susceptibility to pathogenic variant (PV) of genes. This mandates a thorough genetic screening along with MRI among these high-risk individuals.



The population was tested for PVs in germline predisposition gene and estimate the lifetime risk of breast cancer with it.

Breast Cancer and Susceptibility

It was found that there was 3.18% frequency of PVs in predisposition genes among the women with breast cancer. Those without breast cancer had 1.48% rate. Interestingly the prevalence of PVs was found to be lower among the women who had no first-degree relatives with breast cancer.

Among other susceptible cases, PVs in high-risk genes – BRCA1, BRCA2, and PALB2 were found in 3.42% of women diagnosed with estrogen receptor (ER)-negative, 1.0% with ER-positive, and 3.01% with triple-negative breast cancer. Thus overall lifetime risks of breast cancer among the women who had PVs in these genes were ≥ 15%.

The study thereby suggests the need for all the women who are diagnosed with triple-negative breast cancer or ER-negative breast cancer to receive genetic testing. Among those with susceptibility to BRCA1, BRCA2, PALB2, and CHEK2 PVs may require screening through magnetic resonance imaging.

The study however affirms that better strategies are required to further estimate the lifetime risk in older women with breast cancer associated with PVs.

Source: Medindia



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