Defective BRCA1-mediated DNA end resection drives tandem duplication formation and <i>FANCM</i> synthetic lethality

<i>BRCA1</i> -linked cancer genomes contain abundant genome-wide ∼10 kb 'Group 1' tandem duplications (TDs) that are drivers of tumorigenesis. Group 1 TD formation is recapitulated at a chromosomal Tus/ <i>Ter</i> site-specific replication fork barrier in DNA end resection-defective mouse embryonic stem (mES) cells lacking <i>Brca1</i> exon 11. To explore relationships between DNA end resection and Group 1 TD formation, we analyzed <i>Brca1</i> coiled coil (CC) domain mutants-separation-of-function alleles that are impaired for homologous recombination but competent for DNA end resection. Notably, <i>Brca1</i> CC mutants retain the ability to suppress Group 1 TDs in the Tus/ <i>Ter</i> system and in a mouse model of <i>Brca1</i> -linked tumorigenesis. These data show that <i>Brca1</i> CC domain mutant cancers follow a path of tumorigenesis distinct from that of other pathogenic <i>Brca1</i> alleles. FANCM is a TD co-suppressor, the loss of which is synthetic lethal/sick in combination with <i>Brca1</i> exon 11 mutation. In contrast, <i>Fancm</i> deletion is well-tolerated by <i>Brca1</i> CC mutant mES cells. Thus, Group 1 TD formation and <i>Fancm</i> synthetic lethality are linked phenotypes related to defective BRCA1-mediated DNA end resection.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-02-22
DOI
https://doi.org/10.64898/2026.02.20.706968
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality

bioRxiv (Cold Spring Harbor Laboratory)
Genetic factors in colorectal cancer
article

Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality

article en

Abstract

<i>BRCA1</i> -linked cancer genomes contain abundant genome-wide ∼10 kb 'Group 1' tandem duplications (TDs) that are drivers of tumorigenesis. Group 1 TD formation is recapitulated at a chromosomal Tus/ <i>Ter</i> site-specific replication fork barrier in DNA end resection-defective mouse embryonic stem (mES) cells lacking <i>Brca1</i> exon 11. To explore relationships between DNA end resection and Group 1 TD formation, we analyzed <i>Brca1</i> coiled coil (CC) domain mutants-separation-of-function alleles that are impaired for homologous recombination but competent for DNA end resection. Notably, <i>Brca1</i> CC mutants retain the ability to suppress Group 1 TDs in the Tus/ <i>Ter</i> system and in a mouse model of <i>Brca1</i> -linked tumorigenesis. These data show that <i>Brca1</i> CC domain mutant cancers follow a path of tumorigenesis distinct from that of other pathogenic <i>Brca1</i> alleles. FANCM is a TD co-suppressor, the loss of which is synthetic lethal/sick in combination with <i>Brca1</i> exon 11 mutation. In contrast, <i>Fancm</i> deletion is well-tolerated by <i>Brca1</i> CC mutant mES cells. Thus, Group 1 TD formation and <i>Fancm</i> synthetic lethality are linked phenotypes related to defective BRCA1-mediated DNA end resection.

bioRxiv (Cold Spring Harbor Laboratory)
Rutgers, The State University of New Jersey (US), Beth Israel Deaconess Medical Center (US), Howard Hughes Medical Institute (US), Cancer Research Institute (US), The Netherlands Cancer Institute (NL), Oncode Institute (NL), Jackson Laboratory (US), Intellia Therapeutics (United States) (US)
Good health and well-being
Openalex Percentile: Top 48%
Genetic factors in colorectal cancer
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Defective BRCA1-mediated DNA end resection drives tandem duplication formation and <i>FANCM</i> synthetic lethality · bioRxiv (Cold Spring Harbor Laboratory) (2026) | TGRS Research Map | TGRS