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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.

Publication ,  Journal Article
Baig, SM; Fatima, A; Tariq, M; Khan, TN; Ali, Z; Faheem, M; Mahmood, H; Killela, P; Waitkus, M; He, Y; Zhao, F; Wang, S; Jiao, Y; Yan, H
Published in: Fam Cancer
April 2019

Precise genetic counseling and prenatal diagnosis are often hindered by incomplete penetrance of risk variance and complex patterns of inheritance. Here, we performed a clinical and genetic study of a five-generation Pakistani family with a history of multiple cases of childhood brain tumors. Six affected individuals died of brain tumors at very early ages and three were confirmed as having a homozygous mutation in exon 6 of the PMS2 gene (c.543delT). Fifteen members of the family were identified as heterozygous carriers of this mutation with a lack of cancer incidence. Both clinical manifestations and genetic test results of brain tumor patients in the family support the diagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome, a condition in which individuals carry homozygous germline mutations in mismatch repair machinery genes with an early onset of malignancies such as glioma. This information was used to guide prenatal diagnosis with genetic testing on chorionic villus samples for the family. This is the first report of prenatal genetic diagnosis of hereditary brain tumor.

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Published In

Fam Cancer

DOI

EISSN

1573-7292

Publication Date

April 2019

Volume

18

Issue

2

Start / End Page

261 / 265

Location

Netherlands

Related Subject Headings

  • Pregnancy
  • Pedigree
  • Pakistan
  • Oncology & Carcinogenesis
  • Neoplastic Syndromes, Hereditary
  • Mismatch Repair Endonuclease PMS2
  • Male
  • Infant
  • Humans
  • Homozygote
 

Citation

APA
Chicago
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Baig, S. M., Fatima, A., Tariq, M., Khan, T. N., Ali, Z., Faheem, M., … Yan, H. (2019). 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. Fam Cancer, 18(2), 261–265. https://doi.org/10.1007/s10689-018-0112-4
Baig, Shahid Mahmood, Ambrin Fatima, Muhammad Tariq, Tahir Naeem Khan, Zafar Ali, Mohammad Faheem, Humera Mahmood, et al. “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.Fam Cancer 18, no. 2 (April 2019): 261–65. https://doi.org/10.1007/s10689-018-0112-4.
Baig, Shahid Mahmood, et al. “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.Fam Cancer, vol. 18, no. 2, Apr. 2019, pp. 261–65. Pubmed, doi:10.1007/s10689-018-0112-4.
Baig SM, Fatima A, Tariq M, Khan TN, Ali Z, Faheem M, Mahmood H, Killela P, Waitkus M, He Y, Zhao F, Wang S, Jiao Y, Yan H. 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. Fam Cancer. 2019 Apr;18(2):261–265.
Journal cover image

Published In

Fam Cancer

DOI

EISSN

1573-7292

Publication Date

April 2019

Volume

18

Issue

2

Start / End Page

261 / 265

Location

Netherlands

Related Subject Headings

  • Pregnancy
  • Pedigree
  • Pakistan
  • Oncology & Carcinogenesis
  • Neoplastic Syndromes, Hereditary
  • Mismatch Repair Endonuclease PMS2
  • Male
  • Infant
  • Humans
  • Homozygote