M. B. Stoch|P. M. Smythe
Does Undernutrition During Infancy Inhibit Brain Growth and Subsequent Intellectual Development?
Red Cross War Memorial Children's Hospital|University of Cape Town|Red Cross War Memorial Children's Hospital|University of Cape Town
h3aimsh3 ibrca1i gene mutations extensively studied relation breast ovarian cancer susceptibility various genotypephenotype correlation attempts yielded important data pertaining consequences ibrca1i mutations however little known effects recurrent ibrcai mutations expressivity age onset cancer population study addresses whether different exon mutations variable expressivity especially relation age onset breast cancer h3methodsh3 using stepwise systematic approach culminating sequencing ibrca1i ibrca2i exons addition multiplex ligationdependent probe amplification relationship disease phenotypes gene mutations 219 individuals family members examined h3resultsh3 shown different ibrca1i gene mutations distinct effects influence age onset breast ovarian cancer mutations exon 2 ibrca1i gene significantly lower penetrance compared mutations exons 11 13 20 median age affliction breast cancer 55 years 185delag exon 2 95 confidence interval ci 467 595 47 years 4184deltcaa mutation exon 11 95 ci 39 554 41 years exon 13 duplication 95 ci 329 497 ibrca1i gene moreover 14 novel mutations ibrca1i ibrca2i genes yorkshirehumberside population identified conclusions 185delag mutation ibrca1i gene low penetrance mutation age dependent especially compared exon 13 duplication mutation data important ramifications screening genetic counselling prophylactic treatment brca1 gene mutation carriers