title: Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
abstract: OBJECTIVE
  We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic.
  
  
  METHODS
  In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated.
  
  
  RESULTS
  Sixty-three mutation carriers (13.2%) were identified with BRCA1 mutations (6.3%) and BRCA2 mutations (6.9%), respectively. Mutation frequency was affected by familial and personal factors. Breast cancer patients with family history of breast and ovarian cancer showed the highest prevalence of BRCA1/2 mutations (67%), and triple-negative breast cancer (TNBC) patients showed high BRCA1 mutation prevalence (25%). The three probands of BRCA1 deletion (1%) represented both familial risk and personal or clinicopathological risk factors as two with TNBC and one with bilateral ovarian cancer.
  
  
  CONCLUSIONS
  This is the largest study assessing large genomic rearrangement prevalence in Korea and BRCA1 deletion frequency was low as 1% in patients without BRCA1/2 small mutations. For clinical utility of large genomic rearrangement testing needs further study.
authors.affiliation: Graduate School of Cancer Science and Policy, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.|National Cancer Control Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Boyoung
authors.initials: B
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Center for Diagnostic Oncology, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Sohn
authors.affiliation: College of Veterinary Medicine, Konkuk University, 120 Neungdong-ro, Gwangjin-gu, Seoul, 05029, Korea.|Breast & Endocrine Cancer Branch, Research Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Kyong-Ah
authors.initials: KA
authors.lastname: Yoon
authors.affiliation: Center for Breast Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Keun Seok
authors.initials: KS
authors.lastname: Lee
authors.affiliation: Green Cross Genome, 314, Bojeong-dong, Giheung-gu, Yongin-si, Gyeonggi-do, 446-713, Korea.
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.affiliation: Center for Uterine Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.|Gynecologic Cancer Branch, Research Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Myong Cheol
authors.initials: MC
authors.lastname: Lim
authors.affiliation: Center for Breast Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Moon Jung
authors.initials: MJ
authors.lastname: Yang
authors.affiliation: Center for Breast Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Park
authors.affiliation: Center for Breast Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.|Department of Surgery, Keimyung University School of Medicine, 56 Dalseong-Ro, Jung-Gu, Daegu, 700-712, Korea.
authors.forename: Moo Hyun
authors.initials: MH
authors.lastname: Lee
authors.affiliation: Center for Breast Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: See Youn
authors.initials: SY
authors.lastname: Lee
authors.affiliation: Graduate School of Cancer Science and Policy, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.|National Cancer Control Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Yoon Jung
authors.initials: YJ
authors.lastname: Chang
authors.affiliation: Center for Uterine Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea.
authors.forename: Dong Ock
authors.initials: DO
authors.lastname: Lee
authors.affiliation: Graduate School of Cancer Science and Policy, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea. ksy@ncc.re.kr.|Department of Laboratory Medicine, Center for Diagnostic Oncology, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea. ksy@ncc.re.kr.|Translational Epidemiology Research Branch, Research Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea. ksy@ncc.re.kr.
authors.forename: Sun-Young
authors.initials: SY
authors.lastname: Kong
authors.affiliation: Graduate School of Cancer Science and Policy, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea. eslee@ncc.re.kr.|Center for Breast Cancer, Hospital, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea. eslee@ncc.re.kr.|Breast & Endocrine Cancer Branch, Research Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-Si, Gyeonggi-do, 10408, Korea. eslee@ncc.re.kr.
authors.forename: Eun Sook
authors.initials: ES
authors.lastname: Lee
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D015995:Prevalence; D064726:Triple Negative Breast Neoplasms / Q000235:genetics; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1/2 mutation; Breast cancer; Family counseling; Genetic counseling; Large genomic rearrangements