Evidence map›Paper›PMID 42212547›Full record

ArticleMolecular oncology2026

Finding novel vulnerabilities of hypomorphic BRCA1 alleles.

Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M Góis, Rosalie A Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J Wendel, Rob M F Wolthuis and 1 more

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Article in Molecular oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Anne SchreuderDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Klaas de LintDepartment of Clinical Genetics, Section Oncogenetics, Cancer Center Amsterdam, Amsterdam University Medical Center, The Netherlands.
Hồ Mỹ Phúc VõDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Mariana M GóisDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Rosalie A KampenDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Marta San Martin AlonsoDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Ilse NootenboomDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Veronica GarzeroDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.
Tiemen J WendelDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.ORCID https://orcid.org/0009-0006-1434-2396
Rob M F WolthuisDepartment of Clinical Genetics, Section Oncogenetics, Cancer Center Amsterdam, Amsterdam University Medical Center, The Netherlands.
Sylvie M NoordermeerDepartment of Human Genetics, Leiden University Medical Center, The Netherlands.ORCID https://orcid.org/0000-0003-2737-9690

Funding

Exacte en Natuurwetenschappen Sylvie M Noordermeer VI.Vidi.192.039Oncode Institute
6 · The paper itself

Abstract

With the recent rise in CRISPR/Cas9-mediated genome-wide synthetic lethality screens, many new synthetic lethal targets have been identified for diseases with underlying genetic causes such as tumours with BRCA1 mutations. Such screens often use full deficiency of a protein to identify novel vulnerabilities. However, patient-derived mutations not only result in full loss of the protein but often also concern missense mutations with hypomorphic phenotypes. Here, we study the genetic vulnerabilities of two previously described hypomorphic BRCA1 missense mutations and compare these to a BRCA1-depleted setting to study whether this affects screening for synthetic lethal interactions. Our research showed that BRCA1

Indexed as

BRCA1BRCA1‐R1699QCRISPR screenhypomorphic mutationsNDE1synthetic lethality

Identifiers

PMID42212547
PMCPMC13399126

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