Page 65 - CPG endometrial cancer
P. 65

ความผิดปกตทิ างพันธกุ รรมอื่น ๆ ในกลุ่มเสยี่ งสูงในการเกิดมะเรง็ เต้านม

cowden syndrome and bannayan-riley-                                      20. Mai PL, Malkin D, Garber JE, et al. Li-
ruvalcaba syndrome clinical features. J Med                              fraumeni syndrome: Report of a clinical
Genet. 2011;48(8):505-12.                                                research workshop and creation of a research
14. Pilarski R. Cowden syndrome: A critical                              consortium. Cancer Genet. 2012; 205(10):479-87.
review of the clinical literature. J Genet                               21. Bougeard G, Renaux-Petel M, Flaman JM,
Couns. 2009;18(1):13-27.                                                 et al. Revisiting li-fraumeni syndrome from tp53
15. Schneider K, Zelley K, Nichols KE, et al.                            mutation carriers. J Clin Oncol. 2015; 33(21):
Li-fraumeni syndrome. 1999 In: GeneReviews?                              2345-52.
[ Internet] . Seattle University of Washington.                          22. Gonzalez KD, Noltner KA, Buzin CH, et al.
Available from: https://www.ncbi.nlm.nih.gov/                            Beyond li fraumeni syndrome: Clinical
books/NBK1311/.                                                          characteristics of families with p53 germline
16. de Andrade KC, Khincha PP, Hatton JN, et                             mutations. J Clin Oncol. 2009;27(8):1250-6.
al. Cancer incidence, patterns, and genotype-                            23. Hu C, Polley EC, Yadav S, et al. The
phenotype associations in individuals with                               contribution of germline predisposition gene
pathogenic or likely pathogenic germline                                 mutations to clinical subtypes of invasive breast
tp53 variants: An observational cohort study.                            cancer from a clinical genetic testing cohort. J
Lancet Oncol. 2021;22(12):1787-98.                                       Natl Cancer Inst. 2020;112(12):1231-41.
17. Siegel A, Bremer RC, Klein WMP, et al.                               24. Couch FJ, Shimelis H, Hu C, et al.
Uptake and timing of bilateral and contralateral                         Associations between cancer predisposition
risk-reducing mastectomy in women with li-                               testing panel genes and breast cancer. JAMA
fraumeni syndrome. Breast Cancer Res Treat.                              Oncol. 2017;3(9):1190-6.
2022;191(1):159-67.                                                      25. Kurian AW, Ward KC, Howlader N, et al.
18. Mai PL, Best AF, Peters JA, et al. Risks of                          Genetic testing and results in a population-based
first and subsequent cancers among tp53                                  cohort of breast cancer patients and ovarian
mutation carriers in the national cancer institute                       cancer patients. J Clin Oncol. 2019;37(15):1305-15.
li- fraumeni syndrome cohort. Cancer. 2016;
122(23):3673-81.
19. Li FP, Fraumeni JF, Jr., Mulvihill JJ, et al.
A cancer family syndrome in twenty-four
kindreds. Cancer Res. 1988;48(18):5358-62.

                                                    56
   60   61   62   63   64   65   66   67   68   69   70