TY  - CHAP
M1  - Book, Section
TI  - A Breast Cancer Patient with a BRCA1 Mutation
A1  - Chowdhury, M.H. Ruhe
A1  - Copson, Ellen R.
A2  - Copson, Ellen R
A2  - Hall, Peter
A2  - Board, Ruth E
A2  - Cook, Gordon
A2  - Selby, Peter
PY  - 2018
T2  - Problem Solving Through Precision Oncology
AB  - A  32-year-old  woman  presented  with  a  6  week  history  of  a  lump  in  her  right  breast.  Her  medical  history  consisted  only  of  an  appendectomy  performed  10  years  previously.  She  was  otherwise  well  and  had  no  systemic  symptoms.  She  did  not  take  any  regular  medications  and  had  no  known  drug  allergies.She  had  a  significant  family  history  of  malignant  disease:  her  sister  was  diagnosed  with  breast  cancer  aged  39,  a  paternal  aunt  was  diagnosed  with  breast  cancer  aged  43,  and  her  paternal  grandmother  was  diagnosed  with  ovarian  cancer  aged  55.She  was  a  non-smoker  and  drank  fewer  than  10  units  of  alcohol  per  week.  She  lived  with  her  partner  and  2-year-old  daughter.  She  had  one  younger  sister  and  an  older  sister  and  brother.On  physical  examination  the  patient  had  a  palpable  mass  in  the  right  breast.  There  was  no  palpable  lymphadenopathy  and  the  rest  of  the  examination  was  unremarkable.Mammography  and  ultrasound  imaging  of  the  right  breast  revealed  a  suspicious  26  mm  mass  in  the  upper  outer  quadrant.  A  core  biopsy  confirmed  a  grade  3  invasive  ductal  carcinoma,  oestrogen  receptor  (ER)-negative  (quick  score  0/8),  progesterone  receptor  (PR)-negative  (0/8)  and  human  epidermal  growth  factor  receptor  2  (HER2)-negative  (1+  immunohistochemistry).  Breast  MRI  confirmed  unifocal  disease  in  the  right  breast.  There  was  no  radiological  evidence  of  involvement  of  the  axillary  lymph  nodes.The  multidisciplinary  team  (MDT)  recommended  neoadjuvant  chemotherapy,  followed  by  surgical  resection  of  the  tumour.  Fast-track  genetic  testing  identified  a  mutation  in  the  BRCA1  gene  that  was  considered  to  be  pathogenic.After  six  cycles  of  neoadjuvant  chemotherapy  the  patient  had  a  radiological  complete  response.  She  underwent  mastectomy  and  sentinel  node  biopsy.  Histology  revealed  a  pathological  complete  response  (pCR).What  are  the  indications  for  referring  this  patient  forBRCA1/BRCA2mutation  testing?What  is  the  optimum  systemic  therapy  regimen  for  this  patient?What  should  be  taken  into  consideration  when  recommending  breast  surgery  for  this  patient?What  is  the  role  of  prophylactic  bilateral  salpingo-oophorectomy  (BSO)  in  this  patient?What  are  the  implications  of  theBRCA1mutation  finding  for  other  family  members?  
SN  - 
PB  - Clinical Publishing
CY  - New York, NY
Y2  - 2021/03/06
UR  - hemonc.mhmedical.com/content.aspx?aid=1152360691
ER  -