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According to a recent study, the presence of common bad cancer mutations not only indicates an increased risk of bad cancer, but some rare mutations also indicate an increased risk of interval bad cancer and death.
The study was published in Cancer Research, a journal of the American Association for Cancer Research.
"It's not enough to know which markers can predict an increased risk of bad cancer, but we also need to know which biomarkers can identify women at increased risk of aggressive interval cancers that are not usually detected in the past. Routine screening, "said a senior study. author Jingmei Li.
Breast cancers at intervals are detected between mammography screenings; these cancers are often aggressive and have poor prognosis. "About 20% of women participating in routine mammography screening will be diagnosed with bad cancer at intervals, and more sensitive methods to predict and detect these deadly cancers are absolutely necessary," Li said.
Li and her colleagues badyzed data from more than 5,000 bad cancer patients diagnosed between 2001 and 2008 through the Breast Cancer Quality Registry of the Stockholm-Gotland region. The researchers investigated badociations with tumor characteristics and survival outcomes of patients with rare protein-truncating variants (PTV) in 31 cancer predisposition genes, including BRCA1 / 2.
In addition, the researchers developed a polygenic risk score (PRS) by weighting the sum of all known variants of bad cancer, also correlated with tumor characteristics and overall survival.
Because interval cancers are not identified during routine mammography screenings, Li and colleagues badyzed the mode of detection of cancers caused by rare PTVs or common variants. A proportion of interval cancers may include undetected tumors during a routine mammogram. Dense tissues being one of the main causes of masked tumors, women were stratified into risk categories based on the percentage of bad density.
Of the 5,099 bad cancer patients badyzed, 597 had PTV. These patients were younger, had more aggressive tumor phenotypes, and had a 1.50-fold higher risk of bad cancer deaths than non-PTV patients. After excluding 92 women with BRCA1 / 2 mutations in this cohort, women with a potential risk of bad cancer deaths were 1.76 times more likely than women without bad cancer.
Analysis of 5,077 women who did not have BRCA1 / 2 mutations revealed that a higher SRP was badociated with less aggressive tumor characteristics. Notably, no significant survival difference has been badociated with an increase in PRS.
Among women with low bad density, those with PTV mutations were 1.96 times more likely to be diagnosed with bad cancer at intervals than women who did not have PTV mutations. In addition, in women with low bad density, women with non-BRCA1 / 2 PTV mutations still had a 1.89-fold increased risk compared to women without PTV mutations.
In contrast, the risk of developing bad cancer at intervals was reduced by 23% in women with low bad density and a higher PRS.
(This story has not been changed by Business Standard staff and is generated automatically from a syndicated feed.)
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