A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1573-7292

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency ; day:29 ; month:8 ; year:2016 ; pages:1-5
Familial cancer ; (29.8.2016), 1-5

Creator: Wimmer, Katharina

Contributor: Beilken, Andreas
Nustede, Rainer
Ripperger, Tim
Lamottke, Britta
Ure, Benno
Steinmann, Diana
Reineke-Plaass, Tanja
Lehmann, Ulrich
Zschocke, Johannes
Valle, Laura
Fauth, Christine
Kratz, Christian P.
SpringerLink (Online service)

DOI: 10.1007/s10689-016-9925-1

URN: urn:nbn:de:1111-201609265850

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

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Associated

Wimmer, Katharina
Beilken, Andreas
Nustede, Rainer
Ripperger, Tim
Lamottke, Britta
Ure, Benno
Steinmann, Diana
Reineke-Plaass, Tanja
Lehmann, Ulrich
Zschocke, Johannes
Valle, Laura
Fauth, Christine
Kratz, Christian P.
SpringerLink (Online service)

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Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

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A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

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Other Objects (12)

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report

Compound heterozygous MSH3 germline variants and associated tumor somatic DNA mismatch repair dysfunction

Germline variants of homology‐directed repair or mismatch repair genes in cervical cancer

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer

Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region

Estimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors

PRONE

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report

Compound heterozygous MSH3 germline variants and associated tumor somatic DNA mismatch repair dysfunction

Germline variants of homology‐directed repair or mismatch repair genes in cervical cancer

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer

Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region

Estimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors

PRONE

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report

Compound heterozygous MSH3 germline variants and associated tumor somatic DNA mismatch repair dysfunction

Germline variants of homology‐directed repair or mismatch repair genes in cervical cancer

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer

Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region

Estimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors

PRONE

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

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