Prevalence of germline variants in inflammatory breast cancer
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Le résumé fourni par la source
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.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Prevalence of germline variants in inflammatory breast cancer
- Date Crossref
- 01/04/2019
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Harvard University pays non établi dans la noticeUniversité ou école supérieure
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Dana-Farber Cancer Institute Division of Population Sciences pays non établi dans la noticeStructure de recherche
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Ambry Genetics (United States) pays non établi dans la noticeEntreprise
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Dana-Farber Brigham Cancer Center pays non établi dans la noticeÉtablissement de santé
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Division of Population Sciences Dana‐Farber Cancer Institute Boston Massachusetts Susan F. Smith Center for Women’s Cancers pays non établi dans la noticeStructure de recherche
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Harvard Medical School Boston Massachusetts pays non établi dans la noticeInstitution
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Ambry Genetics Aliso Viejo California pays non établi dans la noticeInstitution
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Department of Biostatistics and Computational Biology Dana‐Farber Cancer Institute Boston Massachusetts pays non établi dans la noticeStructure de recherche
Harvard University, Division of Population Sciences — Dana-Farber Cancer Institute et Ambry Genetics (United States), avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.