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SUMMARY:Genetic variants that modify breast cancer risk in women who carry
  a BRCA2 mutation - Karoline Kuchenbaecker
DTSTART:20121115T131000Z
DTEND:20121115T140000Z
UID:TALK40044@talks.cam.ac.uk
CONTACT:Sven Friedemann
DESCRIPTION:Women carrying a pathogenic mutation in the _BRCA2_ gene have 
 an increased risk of breast cancer. However\, risk varies considerably bet
 ween affected families. Our aim was to understand why risk can differ and 
 what the predictors are. Our approach focused on other genetic variants th
 at modify breast cancer risk.\n\nWe tried to identify some of these by com
 paring a large number of genetic variants in 4\,330 _BRCA2_ mutation carri
 ers with breast cancer and in 3\,881 without. We analysed whether carrying
  a certain allele of a genetic variant was associated with increased or de
 creased likelihood of developing cancer.\n\nA variant on chromosome 6 was 
 significantly associated with risk of cancer. Those who carried the minor 
 allele of this variant had a 25% decreased risk of breast cancer. \n\nRisk
  predictors can be used to derive refined risk estimates for individuals c
 arrying a _BRCA2_ mutation. These estimates are crucial in clinical manage
 ment which can include decisions regarding preventive treatments. Furtherm
 ore\, identification of genetic risk modifiers could help us improve our u
 nderstanding of the biology of breast cancer development in these women.
LOCATION:1 Newnham Terrace\, Darwin College
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