Potentially pathogenic germline CHEK2 variant among multiple early-onset cancer families
Familial Cancer
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Correspondence to: Mev Dominguez-Valentin, Deparment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital. Email:
APS: adenomatous polyposis syndromes; BC: breast cancer; CRC: colorectal cancer, OCRC: Oligodontia-colorectal cancer syndrome; HPS: hamartomatous polyposis syndromes; JPS: Juvenile polyposis syndrome; HBC: hereditary breast cancer; HBOC: hereditary breast-ovarian cancer; OC: ovarian cancer; HDGCS: hereditary diffuse gastric cancer syndrome; FAMMMS: familial atypical multiple mole melanoma syndrome; LS: Lynch syndrome; APS* when the mutation is biallelic MUTYH; PPAP: polymerase proofreading-associated polyposis syndrome; CS: Cowden syndrome; PJS: Peutz-Jeghers syndrome; LFS: Li-Fraumeni syndrome; na: not applied
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