Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

Ricciardone, MD; Ozcelik, T; Cevher, B; ÖZDAĞ SEVGİLİ, HİLAL; Tuncer, M; Gurgey, A; Uzunalimoglu, O; Cetinkaya, H; Tanyeli, A; Erken, E; Ozturk, M

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

Ricciardone M., Ozcelik T., Cevher B., ÖZDAĞ SEVGİLİ H., Tuncer M., Gurgey A., ...Daha Fazla

CANCER RESEARCH, cilt.59, sa.2, ss.290-293, 1999 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 59 Sayı: 2
Basım Tarihi: 1999
Dergi Adı: CANCER RESEARCH
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.290-293
Ankara Üniversitesi Adresli: Hayır

Özet

Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer, The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age, and at least two of them displayed signs of neurofibromatosis type 1(NF1), DNA sequence analysis and allele-specific amplification in two siblings revealed a homozygous MLH1 mutation (C676T-->Arg226Stop). Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1.