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Emerging cancer risks in BRCA2 pathogenic germline variant carriers

European Journal of Human Genetics volume 31, pages 1355–1356 (2023)Cite this article

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Carriers of pathogenic germline variants (PGV) in BRCA2 could soon be offered gastric cancer screening using gastroscopy. In the longer term, some might even take part in lung cancer screening programs. Indeed, while the risks of breast, ovarian, pancreatic and prostate cancer have been documented for years, recent data show an increased risk of gastric cancer, and suggest an association with lung cancer. This article focuses specifically on BRCA2, while sidelining its sister gene BRCA1, as evidence for a broad cancer spectrum is much stronger for the former.

Li et al. studied 2157 BRCA2 families via the international Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) [1]. Relative risks (RR) for gastric cancer were 3.69 (95%CI 2.40–5.67), which translated into an absolute risk of 3.5% by age 80 years. RR were actually higher in females compared to males, but due to a lower baseline incidence in females, absolute risks ended up being equal.

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Funding

Funding

No specific funding was involved.

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Authors and Affiliations

  1. Sorbonne Université, UF d’Oncogénétique Clinique, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l’Hôpital, F-75013, Paris, France

    Patrick R. Benusiglio

  2. Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine (CRSA), Equipe Instabilité des Microsatellites et Cancer, F-75012, Paris, France

    Patrick R. Benusiglio

  3. Sorbonne Université, Service de Chirurgie Digestive, Hôpital Saint-Antoine, APHP, F-75012, Paris, France

    Antoine Dardenne

  4. Sorbonne Université, GRC-04 Theranoscan et Service de Pneumologie et Oncologie Thoracique, Hôpital Tenon, APHP, F-75020, Paris, France

    Vincent Fallet & Jacques Cadranel

Authors
  1. Patrick R. Benusiglio
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  2. Antoine Dardenne
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  3. Vincent Fallet
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  4. Jacques Cadranel
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Contributions

PB reviewed the literature and wrote the first draft. PB, AD, VF and JC discussed the evidence, made carrier management proposals, revised the paper and approved the final version.

Corresponding author

Correspondence to Patrick R. Benusiglio.

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Competing interests

PRB has received honoraria from AstraZeneca and MSD, the manufacturers or olaparib, a drug that targets BRCA2-deficient cancers.

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Benusiglio, P.R., Dardenne, A., Fallet, V. et al. Emerging cancer risks in BRCA2 pathogenic germline variant carriers. Eur J Hum Genet 31, 1355–1356 (2023). https://doi.org/10.1038/s41431-023-01465-y

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  • DOI: https://doi.org/10.1038/s41431-023-01465-y

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