Abstract:
PURPOSE:Although breast cancer in young women accounts for <10% of diagnoses annually, tumors in young patients exhibit more aggressive characteristics and higher mortality rates. Determination of the frequency of germline mutations in cancer predisposition genes is needed to improve the understanding of breast cancer etiology in young women. METHODS:All female patients enrolled in the Clinical Breast Cancer Project between 2001 and 2015 and diagnosed with invasive breast cancer before age 40 were included in this study. Family history was classified using the NCCN Familial Risk Assessment guidelines. Targeted sequencing of 94 cancer predisposition genes was performed using peripheral blood DNA. Variants were detected using VariantStudio and classified using ClinVar. RESULTS:Seven percent (141/1980) of patients were young women and 44 had a significant family history. Sequencing was completed for 118 women with genomic DNA. Pathogenic mutations were present in 27 patients: BRCA1 (n = 10), BRCA2 (n = 12), TP53 (n = 1), and CHEK2 (n = 4). Mutations classified as pathogenic were also detected in APC (n = 1) and MUTYH (n = 2). Variants of uncertain significance (VUS) were detected in an additional 17 patients in ten genes. DISCUSSION:Pathogenic mutations in high- and moderate-risk breast cancer genes were detected in 23% of young women with an additional 3% having pathogenic mutations in colon cancer predisposition genes. VUS were observed in 14% of women in genes such as ATM, BRCA2, CDH1, CHEK2, and PALB2. Identification of those non-genetic factors is critical to reduce the burden of breast cancer in this population.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Rummel SK,Lovejoy L,Shriver CD,Ellsworth REdoi
10.1007/s10549-017-4291-8subject
Has Abstractpub_date
2017-08-01 00:00:00pages
593-601issue
3eissn
0167-6806issn
1573-7217pii
10.1007/s10549-017-4291-8journal_volume
164pub_type
杂志文章abstract::Discomfort during sexual activity is common after breast cancer. Vaginal estrogens are effective but commonly avoided due to systemic absorption. Despite the large commercial market for vaginal lubricants, no randomized studies have compared products. We aimed to compare efficacy and acceptability of two major types o...
journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01805721
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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