RT Book, Section
A1 Comen, Elizabeth A.
A1 Offit, Kenneth
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102700277
T1 Familial Cancer Syndromes
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessmedicine.mhmedical.com/content.aspx?aid=1102700277
RD 2024/04/19
AB Disease  summary:Familial  cancer  syndromes  are  defined  as  cancers  that  arise  in  families  with  a  genetic  predisposition  to  develop  cancer.To  date,  up  to  10%  of  all  cancer  diagnoses  are  in  individuals  with  an  inherited  genetic  mutation  causing  increased  risk.  Most  of  the  common  syndromes  are  a  result  of  autosomal  dominant  mutations  and  result  in  earlier  age  at  cancer  diagnosis  than  those  found  in  the  general  population.Familial  cancer  predisposition  may  refer  to  syndromes  where  one  or  two  types  of  cancer  are  dominant,  such  as  breast  and  ovarian  cancer  in  BRCA1  mutation  carriers.  Alternatively,  familial  cancer  syndromes  may  refer  to  syndromes  which  result  in  multiple  affected  organs,  such  as  the  case  with  HNPCC  (Lynch  syndrome)  whereby  mutations  in  DNA  mismatch  repair  genes  confer  an  increased  risk  to  multiple  types  of  cancers,  for  example,  large  and  small  bowel,  uterus,  stomach,  ovaries,  urinary  tract,  etc.As  the  ability  to  identify  and  understand  the  genetic  and  genomic  changes  in  an  individual  progresses,  our  understanding  of  inherited  risk  is  likely  to  change.  Models  which  incorporate  multifactorial  genetic  and  environmental  influences  will  evolve  to  better  assess  familial  risk.