Venous thromboembolism incidence in cancer patients with germline BRCA mutations

Background Germline BRCA (gBRCA) mutations predispose to an increased risk of breast and ovarian cancer among other neoplasms. Recently, several genomic alterations such as ALK and ROS-1 rearrangements have been described as molecular drivers of venous thromboembolism (VTE). The association of gBRCA...

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Published in:	Clinical & translational oncology Vol. 24; no. 1; pp. 154 - 158
Main Authors:	Muñoz, A. J., de Toro, M., Ortega, L., López, C., Gutiérrez, A., Juliao, D. S., Arregui, M., Lobato, N., Echavarría, I., Márquez-Rodas, I., Martín, M.
Format:	Journal Article
Language:	English
Published:	Cham Springer International Publishing 2022
Subjects:	Adult Aged Breast Neoplasms - complications Breast Neoplasms - genetics Female Genes, BRCA1 Genes, BRCA2 Germ-Line Mutation Humans Incidence Medicine Medicine & Public Health Middle Aged Neoplasms - complications Neoplasms - genetics Oncology Ovarian Neoplasms - complications Ovarian Neoplasms - genetics Research Article Retrospective Studies Venous Thromboembolism - epidemiology Venous Thromboembolism - etiology Young Adult Breast cancer BRCA mutation Venous thromboembolism Cancer Ovarian cancer
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Summary:	Background Germline BRCA (gBRCA) mutations predispose to an increased risk of breast and ovarian cancer among other neoplasms. Recently, several genomic alterations such as ALK and ROS-1 rearrangements have been described as molecular drivers of venous thromboembolism (VTE). The association of gBRCA mutations and VTE is unknown. Materials and methods We performed an observational, retrospective, single-center study to determine the VTE incidence in consecutive patients with gBRCA mutations and cancer diagnosis attended in the multidisciplinary heredofamiliar cancer unit (HFCU) of Hospital General Universitario Gregorio Marañón, Spain, from 2010 to 2019. Results One-hundred and forty-one patients were included in the analysis. The overall VTE incidence was 12.8%. The highest incidence was reported in ovarian cancer patients (20.0%), followed by patients with both ovarian and breast cancers (16.6%) and the lowest was found in breast cancer (4.9%). No difference in the type of gBRCA mutation (1 or 2) in terms of VTE rate was observed. Sixty one percent of the patients were receiving anti-cancer therapy at the time of VTE diagnosis and the majority of the events (83.3%) were diagnosed in ambulatory setting. Khorana score was of limited value to detect high-risk patients. Conclusions The VTE incidence observed in our study is consistent with prior data described in general population of breast and ovarian cancer. The risk of VTE in these patients seems to be driven by the type of cancer. We have not observed any significant interaction of gBRCA mutation status and cancer-associated thrombosis.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Undefined-1 ObjectType-Feature-3 content type line 23
ISSN:	1699-048X 1699-3055
DOI:	10.1007/s12094-021-02678-7