Folic acid administration to women in the periconceptional period reduces the occurrence of
neural tube defects (NTDs) in their offspring. A polymorphism in the gene encoding …

Context Nontoxic multinodular goiter (MNG) is frequently observed in the general population,
but little is known about the underlying genetic susceptibility to this disease. Familial cases …

No more than ≈30% of hereditary breast cancer has been accounted for by mutations in
known genes. Most of these genes, such as BRCA1, BRCA2, TP53, CHEK2, ATM, and FANCJ/…

Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer
syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia …

DICER1 is crucial for embryogenesis and early development. Forty different heterozygous
germline DICER1 mutations have been reported worldwide in 42 probands that developed as …

Purpose: Fluorouracil (5-FU) is widely used in the treatment of colorectal cancer.
Methylenetetrahydrofolate reductase (MTHFR) could play an important role in the action of 5-FU, an …

Dear Sir: Current evidence indicates that about 5%–10% of pancreatic cancer has a familial
component, although the vast majority of pancreatic cancer families remain unexplained. 1 …

Background PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2
mutations are rare causes of hereditary breast cancer but may be important in countries …

Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic
factors are not well established. We recently identified a germ-line DICER1 mutation in a …

Introduction As a group, women who carry germline mutations in partner and localizer of
breast cancer 2 susceptibility protein (PALB2) are at increased risk of breast cancer. Little is …