Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome-Reference-Cited by-同舟云学术

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Published:2018-11-26 Issue:2 Volume:18 Page:261-265
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Baig Shahid Mahmood,Fatima Ambrin,Tariq Muhammad,Khan Tahir Naeem,Ali Zafar,Faheem Mohammad,Mahmood Humera,Killela Patrick,Waitkus Matthew,He Yiping,Zhao Fangping,Wang Sizhen,Jiao Yuchen,Yan Hai

Funder

Higher Education commission (HEC) of Pakistan

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-018-0112-4.pdf

Reference23 articles.

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3. Krepischi AC, Pearson PL, Rosenberg C (2012) Germline copy number variations and cancer predisposition. Future Oncol 8(4):441–450

4. Vasen HF et al (2014) Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D). J Med Genet 51(5):283–293

5. Wimmer K et al (2014) Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). J Med Genet 51(6):355–365

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1. NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes;Molecular Genetics and Genomics;2022-08-24

2. Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2;Frontiers in Oncology;2022-08-02

3. The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals;International Journal of Molecular Sciences;2021-04-28