Prevalence of germline variants in inflammatory breast cancer
| Autor: | Rosalba Sacca, Holly LaDuca, Virginia Speare, Emily Schlosnagle, Judy Garber, Beth Overmoyer, Jill S. Dolinsky, Christine Drogan, Huma Q. Rana, Stephanie Gutierrez, Meredith M. Regan |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Oncology Cancer Research medicine.medical_specialty PALB2 medicine.disease_cause Inflammatory breast cancer 03 medical and health sciences 0302 clinical medicine Breast cancer Germline mutation Internal medicine Biomarkers Tumor Prevalence medicine Humans Genetic Predisposition to Disease 030212 general & internal medicine skin and connective tissue diseases CHEK2 Germ-Line Mutation Retrospective Studies Genetic testing medicine.diagnostic_test BRCA1 Protein business.industry Cancer Middle Aged Prognosis medicine.disease Survival Rate Checkpoint Kinase 2 Massachusetts 030220 oncology & carcinogenesis Female Inflammatory Breast Neoplasms Fanconi Anemia Complementation Group N Protein Carcinogenesis business Follow-Up Studies |
| Zdroj: | Cancer. |
| ISSN: | 1097-0142 0008-543X |
| DOI: | 10.1002/cncr.32062 |
| Popis: | Background Inflammatory breast cancer (IBC) is an uncommon and aggressive subtype of breast cancer associated with early disease recurrence and short survival. The prevalence of germline variants in cancer predisposition genes has not been systematically evaluated in women with IBC. Methods Among 301 women enrolled in the clinical IBC registry at a single institution between 2010 and 2017, 168 had documented genetic testing. A second cohort of 200 IBC cases who had panel-based germline testing performed through a commercial testing laboratory from 2012 to 2017 was added to the analyses. Personal and family cancer histories and genetic testing results were evaluated when they were available for both cohorts. Results Among 501 IBC cases, 368 had documented genetic testing. Germline mutations (56 total) were identified in 53 cases (14.4%). BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer. The prevalence of mutations was 24% (22 of 92) among women with triple-negative IBC, 13% (13 of 99) among women with estrogen receptor- and/or progesterone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative disease, and 9.3% (10 of 108) among women with HER2-positive IBC. Conclusions The prevalence and diversity of germline genetic mutations among patients with IBC suggest that further studies should be performed to assess the role of inherited mutations in IBC carcinogenesis in comparison with non-IBC breast cancer. Since IBC has a high metastatic potential associated with poor prognostic outcomes, proposed future studies may also inform targeted treatment options. |
| Databáze: | OpenAIRE |
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