Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers

Catherine H. Marshall; Ali T. Arafa; Ellen Jaeger; Stamatina Fragkogianni; Anne Sonnenschein; Elizabeth Mauer; Lukasz P. Gondek; Calvin Chao; Jun Luo; Emmanuel S. Antonarakis

doi:10.3390/cancers17091432

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers

Catherine H. Marshall, Ali T. Arafa, Ellen Jaeger, Stamatina Fragkogianni, Anne Sonnenschein, Elizabeth Mauer, Lukasz P. Gondek, Calvin Chao, Jun Luo, Emmanuel S. Antonarakis

Medicine - Hematology, Oncology, Transplant

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Abstract

Clonal hematopoiesis (CH) is the expansion of white blood cells with mutations in genes associated with hematologic malignancies found in patients without evidence of any hematologic malignancy. CH is associated with increasing age and exposure to certain cancer therapies. We hypothesized that having a germline cancer predisposition gene mutation might be associated with an increased risk of CH. We used the deidentified Tempus dataset to answer this question. Among patients with breast cancer, we did see an association with increased risk of CH; this was not seen among those with prostate, ovarian, and pancreatic cancer.

Original language	English (US)
Article number	1432
Journal	Cancers
Volume	17
Issue number	9
DOIs	https://doi.org/10.3390/cancers17091432
State	Published - May 2025

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© 2025 by the authors.

Keywords

breast cancer
clonal hematopoiesis
genetics
germline DNA repair defects
ovarian cancer
pancreatic cancer
prostate cancer

PubMed: MeSH publication types

Journal Article

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3390/cancers17091432

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title = "Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers",

abstract = "Clonal hematopoiesis (CH) is the expansion of white blood cells with mutations in genes associated with hematologic malignancies found in patients without evidence of any hematologic malignancy. CH is associated with increasing age and exposure to certain cancer therapies. We hypothesized that having a germline cancer predisposition gene mutation might be associated with an increased risk of CH. We used the deidentified Tempus dataset to answer this question. Among patients with breast cancer, we did see an association with increased risk of CH; this was not seen among those with prostate, ovarian, and pancreatic cancer.",

keywords = "breast cancer, clonal hematopoiesis, genetics, germline DNA repair defects, ovarian cancer, pancreatic cancer, prostate cancer",

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month = may,

doi = "10.3390/cancers17091432",

language = "English (US)",

volume = "17",

journal = "Cancers",

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AU - Marshall, Catherine H.

AU - Arafa, Ali T.

AU - Jaeger, Ellen

AU - Fragkogianni, Stamatina

AU - Sonnenschein, Anne

AU - Mauer, Elizabeth

AU - Gondek, Lukasz P.

AU - Chao, Calvin

AU - Luo, Jun

AU - Antonarakis, Emmanuel S.

PY - 2025/5

Y1 - 2025/5

N2 - Clonal hematopoiesis (CH) is the expansion of white blood cells with mutations in genes associated with hematologic malignancies found in patients without evidence of any hematologic malignancy. CH is associated with increasing age and exposure to certain cancer therapies. We hypothesized that having a germline cancer predisposition gene mutation might be associated with an increased risk of CH. We used the deidentified Tempus dataset to answer this question. Among patients with breast cancer, we did see an association with increased risk of CH; this was not seen among those with prostate, ovarian, and pancreatic cancer.

AB - Clonal hematopoiesis (CH) is the expansion of white blood cells with mutations in genes associated with hematologic malignancies found in patients without evidence of any hematologic malignancy. CH is associated with increasing age and exposure to certain cancer therapies. We hypothesized that having a germline cancer predisposition gene mutation might be associated with an increased risk of CH. We used the deidentified Tempus dataset to answer this question. Among patients with breast cancer, we did see an association with increased risk of CH; this was not seen among those with prostate, ovarian, and pancreatic cancer.

KW - breast cancer

KW - clonal hematopoiesis

KW - genetics

KW - germline DNA repair defects

KW - ovarian cancer

KW - pancreatic cancer

KW - prostate cancer

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U2 - 10.3390/cancers17091432

DO - 10.3390/cancers17091432

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C2 - 40361359

AN - SCOPUS:105005081574

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JO - Cancers

JF - Cancers

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Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers

Abstract

Bibliographical note

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UN SDGs

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