Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Emerging cancer risks in BRCA2 pathogenic germline variant carriers.

Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.

Lynch syndrome: influence of additional susceptibility variants on cancer risk.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Characterization of lung cancers in patients with BRCA germline variants: A multicenter series.

International Delphi consensus guidelines for follow-up after prophylactic total gastrectomy: the Life after Prophylactic Total Gastrectomy (LAP-TG) study.

Preimplantation genetic testing in patients with genetic susceptibility to cancer.

Lung cancer is also a hereditary disease.

Cancer predisposition and germline CTNNA1 variants.

Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.

Hereditary diffuse gastric cancer: updated clinical practice guidelines.

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.

Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.

Publications