Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

被引：136
|
作者：
Lalloo, F [1 ]
Varley, J
Ellis, D
Moran, A
O'Dair, L
Pharoah, P
Evans, DGR
机构：
[1] St Marys Hosp, Dept Clin Genet, Manchester M13 0JH, Lancs, England
[2] Christie NHS Trust, Canc Res UK Paterson Inst Canc Res, Manchester, Lancs, England
[3] Guys Hosp, London SE1 9RT, England
[4] Univ Manchester, Ctr Canc Epidemiol, Manchester M13 9PL, Lancs, England
[5] Univ Cambridge, Dept Oncol, Strangeways Res Lab, Cambridge CB2 1TN, England
来源：
LANCET | 2003年 / 361卷 / 9363期
关键词：
D O I：
10.1016/S0140-6736(03)12856-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We aimed to assess frequency and penetrance of BRCA1, BRCA2, and TP53 mutations in women diagnosed with breast cancer aged 30 years or younger, and then correlate this frequency with family history. 17 of 36 familial cases had a BRCA1, BRCA2, or TP53 mutation, compared with three of 63 non-familial cases. The calculated population frequency of TP53 mutations was one In 5000, substantially greater than previous estimates. This finding underlines the importance of accurate elucidation of a family history from young women diagnosed with breast cancer. Establishment of family history could help with development of patient-specific management and tumour surveillance protocols.
引用
收藏
页码：1101 / 1102
页数：2
相关论文
共 50 条
  • [21] Prevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate Cancer
    Liu, Xiaoxi
    Takata, Sadaaki
    Ashikawa, Kyota
    Aoi, Tomomi
    Kosugi, Shunichi
    Terao, Chikashi
    Parrish, Nicholas F.
    Matsuda, Koichi
    Nakagawa, Hidewaki
    Kamatani, Yoichiro
    Kubo, Michiaki
    Momozawa, Yukihide
    JCO PRECISION ONCOLOGY, 2020, 4 : 183 - 191
  • [22] Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients
    Chang, Pi-Yueh
    Chang, Shih-Cheng
    Wang, Mei-Chia
    Chen, Jinn-Shiun
    Tsai, Wen-Sy
    You, Jeng-Fu
    Chen, Chia-Chun
    Liu, Hsiu-Ling
    Chiang, Jy-Ming
    CANCERS, 2020, 12 (12) : 1 - 12
  • [23] Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry
    Yurgelun, Matthew B.
    Masciari, Serena
    Joshi, Victoria A.
    Mercado, Rowena C.
    Lindor, Noralane M.
    Gallinger, Steven
    Hopper, John L.
    Jenkins, Mark A.
    Buchanan, Daniel D.
    Newcomb, Polly A.
    Potter, John D.
    Haile, Robert W.
    Kucherlapati, Raju
    Syngal, Sapna
    JAMA ONCOLOGY, 2015, 1 (02) : 214 - 221
  • [24] EARLY-ONSET ENDOMETRIAL CANCER PATIENTS ARE AT HIGH RISK FOR LYNCH SYNDROME REGARDLESS OF FAMILY HISTORY
    Mete, L. Sanchez
    Vocaturo, G.
    Martayan, A.
    Casini, B.
    Diodoro, M.
    Mannisi, E.
    Vizza, E.
    Stigliano, V.
    DIGESTIVE AND LIVER DISEASE, 2019, 51 : E156 - E157
  • [25] Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family
    Díez, O
    Domènech, M
    Cortés, J
    Del Río, E
    Brunet, J
    Alonso, MC
    Baiget, M
    CANCER LETTERS, 1999, 142 (01) : 71 - 73
  • [26] Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry
    Scott, Cameron M.
    Joo, JiHoon Eric
    O'Callaghan, Neil
    Buchanan, Daniel D.
    Clendenning, Mark
    Giles, Graham G.
    Hopper, John L.
    Wong, Ee Ming
    Southey, Melissa C.
    PLOS ONE, 2016, 11 (11):
  • [27] Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history
    Tonin, PN
    Perret, C
    Lambert, JA
    Paradis, AJ
    Kantemiroff, T
    Benoît, MH
    Martin, G
    Foulkes, WD
    Ghadirian, P
    INTERNATIONAL JOURNAL OF CANCER, 2001, 95 (03) : 189 - 193
  • [28] Familial aggregation of early-onset cancers in early-onset breast cancer families
    Rantala, Jasmiina N. J.
    Heikkinen, Sanna M.
    Hirvonen, Elli M.
    Tanskanen, Tomas
    Malila, Nea K.
    Pitkaniemi, Janne M.
    INTERNATIONAL JOURNAL OF CANCER, 2023, 153 (02) : 331 - 340
  • [29] Family history and the risk of early-onset persistent, early-onset transient, and late-onset asthma
    London, SJ
    Gauderman, WJ
    Avol, E
    Rappaport, EB
    Peters, JM
    EPIDEMIOLOGY, 2001, 12 (05) : 577 - 583
  • [30] Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer
    Loman, N
    Johannsson, O
    Kristoffersson, U
    Olsson, H
    Borg, Å
    JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2001, 93 (16): : 1215 - 1223
12345