Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.

ABSTRACT:

Background

Genetic anticipation, the earlier onset of disease in successive generations, has been reported in hereditary breast and ovarian cancer syndrome (HBOC), but little is known about its underlying mechanisms. Ascertainment bias has been suggested as a reason in previous studies. Likewise, cohort effect, which may be caused by environmental factors, can be misinterpreted as genetic anticipation.

Methods

The authors reviewed the pedigrees of 176 kindreds, segregating those with deleterious mutations in breast cancer genes 1 and 2 (BRCA1/BRCA2) who had at least 2 consecutive generations of the same cancer (breast or ovarian). By using mutation probabilities as analytical weights in weighted random-effect models, generational differences in the age at onset of breast/ova

SUBMITTER: Guindalini RS 

PROVIDER: S-EPMC4892951 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature