TY  - CHAP
M1  - Book, Section
TI  - Genetic and Familial Assessment for Hereditary Cancer Syndromes
A1  - Rowe, Julie H.
A1  - Gonzalez, Anneliese O.
A1  - Jafri, Syed H.
A1  - Cen, Putao
A1  - Kanaan, Zeyad
A1  - Amato, Robert J.
A1  - Rios, Adan
A1  - El-Osta, Hazem
A1  - Mohlere, Virginia
Y1  - 2019
N1  - 
T2  - Hematology-Oncology Clinical Questions
AB  - Table  Graphic  Jump  Location|Download  (.pdf)|PrintKey  conceptAround  5%–10%  of  cancers  are  hereditary.  Genetic  testing  is  helpful  to  identify  high-risk  patients  and  families  who  may  benefit  from  increased  screening,  chemoprevention,  and  risk-reducing  surgeries.  HBOC  is  an  autosomal  dominant  condition  caused  by  a  mutation  in  BRCA1  or  BRCA2.  Families  with  HBOC  have  combinations  of  breast,  ovarian,  prostate,  and  pancreatic  cancers  and  possibly  melanoma,  sometimes  at  younger  ages.  These  families  are  commonly  Ashkenazi  Jewish  (carrier  frequency  of  1/40),  but  this  is  a  differential  diagnosis  regardless  of  ancestry  (1/400–1/800  in  Europeans).Clinical  scenarioA  60-year-old  woman  with  stage  IV  pancreatic  cancer  and  a  prior  history  of  stage  I  invasive  ductal  carcinoma  of  the  right  breast  at  age  39,  post-mastectomy,  with  a  family  history  of  ovarian  cancer  in  paternal  aunt  at  age  79  and  a  paternal  male  cousin  with  prostate  cancer  at  age  65  through  unaffected  uncle.  She  has  two  daughters  and  wants  to  know  whether  her  children  need  to  get  genetic  testing.Action  itemsEducated  genetic  counseling  process:  discussion  between  genetic  counselor,  patient,  and  physician  about  possible  cancer  risks  and  management  prior  to  pursuing  genetic  testing  for  educated  testing  decision,  including  post-test  counseling  to  discuss  the  management  planGenetic  testing  to  be  offered  to  adults  only  (age  25  years,  as  screening  begins  at  this  age,  although  if  family  planning  is  earlier,  may  start  as  young  as  age  18  years)Offer  comprehensive  testing  to  the  patient  first  (prior  to  family):  individuals  affected  with  cancer  are  more  informative  testing  candidates  This  will  likely  include  a  panel  to  address  breast,  ovarian,  and  pancreatic  gene  overlapRisk  assessment:  if  the  patient  meets  criteria  for  genetic  testing,  per  NCCN  guidelines,  offer  testing1Management  if  results  are  positive1-7Table  Graphic  Jump  Location|Download  (.pdf)|PrintGENELIFETIME  CANCER  RISKSPECIALISTMANAGEMENTBRCA1/2Female  breast:  50%–87%Breast  surgeon,  breast  medical  oncologistOPTIONS:↑  Surveillance:  mammogram  alternating  with  breast  MRI  every  6  moRisk  reduction:  chemoprevention,  bilateral  mastectomySecond  breast  primary:  65%Male  breast:  6%–8%PCPSelf  breast  and  clinical  breast  exams  every  12  mo  at  age  35,  mammograms  begin  at  age  40BRCA1Ovarian:  44%High-risk  gynecologic  oncologist↑  Surveillance:  Consider  baseline  CA125,  TVUS  at  age  30RECOMMENDATION:  Bilateral  salpingo-oophorectomy  at  age  35–40  (if  post-bilateral  mastectomy,  complete  at  age  40–45)BRCA2Ovarian:  27%BRCA1Prostate:  16%PCPAnnual  prostate-specific  antigen  and  digital  rectal  exam  at  age  40BRCA2Prostate:  20%–30%BRCA1Pancreas:  4%High-risk  GI  medical  oncologistConsider  pancreatic  screening  if  meet  CAPS3  and  ACG  criteria  (based  on  family  history  of  pancreatic  cancer)BRCA2Pancreas:  5%–10%BRCA1/2Melanoma:  1%–6%DermatologistAnnual  skin  examDiscussionPatients  with  suspected  hereditary  conditions  should  meet  with  a  genetic  counselor  and/or  physician  to  pursue  genetic  counseling  and  testing  (a  blood  test)  to  clarify  their  cancer  risk  management  recommendations.  There  are  several  tests  to  choose  from,  and  test  selection  should  take  into  consideration  the  cancer  primaries  in  each  patient’s  personal  and  family  medical  history  to  allow  for  a  comprehensive  testing  approach.There  are  at  least  17  hereditary  breast  cancer  risk  genes,  24  hereditary  ovarian  cancer  risk  genes,  13  hereditary  pancreatic  cancer  risk  genes,  9  hereditary  prostate  cancer  risk  genes,  and  12  hereditary  melanoma  risk  genes.  Of  these,  TP53  and  BRCA1/2  overlap  with  all  of  them,  and  there  is  overlap  among  each  of  these  genes  into  other  organ  risks  but  many  that  do  not  (ie,  many  pancreatic  cancer  risk  genes  that  do  ...
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - hemonc.mhmedical.com/content.aspx?aid=1162981571
ER  -