Abstract
BackgroundThe objective of this study was to determine spectrum and prevalence of germline mutations in TP53 gene among Polish women with early-onset breast cancer (BC), which has not been determined until now.MethodsA cohort of 100 females with BC diagnosed ≤ 30 years of age and with a positive family history of cancer was used as a discovery cohort. 1880 women with BC ≤ 45 years old and a control group of 2000 healthy women were genotyped as a replication phase of this study.ResultsFour heterozygous pathogenic missense mutations were detected in a group of 100 patients with early-onset breast cancer. On the basis of software prediction and available literature data, all these variants were defined as pathogenic. None of these TP53 variants were detected among 1880 breast cancer patients and 2000 healthy controls. No large mutations were found among early-onset cases using MLPA reaction.ConclusionGermline pathogenic TP53 variants were found in 4% early-onset Polish BC patients. No founder mutations were identified in Polish population. To improve the treatment and surveillance screening, the search for germline TP53 pathogenic variants is recommended for all female BC cases diagnosed ≤ 30 years old.
Highlights
Breast cancer is the most frequent cancer, affecting 2.1 million women annually, and causes the greatest number of cancer-related deaths among women
BRCA mutations accounts for 10–20% of women with early-onset breast cancer [3]
A cohort of 100 unrelated patients diagnosed with earlyonset breast cancer ≤ 30 years of age was used as a discovery cohort to detect germline TP53 variants
Summary
Breast cancer is the most frequent cancer, affecting 2.1 million women annually, and causes the greatest number of cancer-related deaths among women. BRCA mutations accounts for 10–20% of women with early-onset breast cancer (defined as breast cancer diagnosed under age 40 years) [3]. The objective of this study was to determine spectrum and prevalence of germline mutations in TP53 gene among Polish women with early-onset breast cancer (BC), which has not been determined until now. On the basis of software prediction and available literature data, all these variants were defined as pathogenic. None of these TP53 variants were detected among 1880 breast cancer patients and 2000 healthy controls. To improve the treatment and surveillance screening, the search for germline TP53 pathogenic variants is recommended for all female BC cases diagnosed ≤ 30 years old
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