Genetic anticipation of familial breast cancer with or without BRCA mutation in the Korean population.
We investigated genetic anticipation of breast or ovarian cancer in patients with familial breast cancer. Among 201 patients with breast cancer who had a family history of breast or ovarian cancer, 95 families had affected familial members in the previous generation. Of these families, 2 were excluded because of insufficient data. From the 93 eligible families, 112 and 111 members were identified in the previous and proband generations, respectively. BRCA mutations were detected in 26 (28.0%) of the 93 probands. The median age at diagnosis of the first generation was 57 years and of the second generation was 40 years, which was a significant difference. The result from the mixed-effects model also demonstrated significant genetic anticipation (P < 0.0001). The expected age difference at onset of breast or ovarian cancer between the two generations was 17.06 years. BRCA mutation status did not influence the generational difference in age at diagnosis (17.99 vs. 16.62 y, P = 0.3973). Genetic counseling and early screening should be provided to women whose parent had a breast or ovarian cancer diagnosis.
Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jae Myoung
JM
Noh
Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Electronic address: doho.choi@samsung.com.
Doo Ho
DH
Choi
Department of Nursing, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Hyejin
H
Baek
Department of Biostatistics, Samsung Biomedical Research Institute, Seoul, Korea.
Min-Ji
MJ
Kim
Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Hyojung
H
Park
Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Seung Jae
SJ
Huh
Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Won
W
Park
Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Seok Jin
SJ
Nam
Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jeong Eon
JE
Lee
Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Won-Ho
WH
Kil
Department of Radiation Oncology, Robert Wood Johnson Medical School, Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Bruce G
BG
Haffty
D000328:Adult; D000368:Aged; D020132:Anticipation, Genetic; D044466:Asian People / Q000235:genetics; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000151:congenital* / Q000208:ethnology / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics; D056910:Republic of Korea
D019313:BRCA1 Protein; D024682:BRCA2 Protein
BRCA genes; Breast cancer; anticipation; familial; hereditary breast; ovarian cancer syndrome