Other Hereditary Breast Cancer Syndromes and Genes

作者: Katherine L. Nathanson

DOI: 10.1007/978-1-4419-0477-5_7

关键词: OncologyIncreased riskCancerHereditary Breast CancerInternal medicineGeneFanconi anemiaCancer susceptibilityCowden syndromeMedicineBreast cancer

摘要: The major genes associated with inherited susceptibility to breast cancer are BRCA1 and BRCA2. However, is a component of other syndromes, including Li-Fraumeni syndrome, Cowden Peutz-Jeghers syndrome Hereditary Gastric Cancer. This chapter divided into two parts: (1) rare familial syndromes as (Table 7.1) (2) mutations in DNA damage response an increased risk cancer, notably families multiple cases.

参考文章(200)
Kenneth Offit, Heather Pierce, Tomas Kirchhoff, Prema Kolachana, Beth Rapaport, Peter Gregersen, Steven Johnson, Orit Yossepowitch, Helen Huang, Jaya Satagopan, Mark Robson, Lauren Scheuer, Khedoudja Nafa, Nathan Ellis, Frequency of CHEK2*1100delC in New York breast cancer cases and controls BMC Medical Genetics. ,vol. 4, pp. 1- 4 ,(2003) , 10.1186/1471-2350-4-1
Hans D. Ochs, Suna Onengut, Sharon Teraoka, Richard A. Gatti, Aslihan Tolun, Jocyndra Wright, Patrick Concannon, A high frequency of distinct ATM gene mutations in ataxia-telangiectasia American Journal of Human Genetics. ,vol. 59, pp. 839- 846 ,(1996)
Louise C. Strong, Robert E. Ferrell, Robert E. Ferrell, John C. Law, Abirami Chidambaram, Abirami Chidambaram, A Germ Line Mutation in Exon 5 of the p53 Gene in an Extended Cancer Family Cancer Research. ,vol. 51, pp. 6385- 6387 ,(1991)
M. F. Santibanez-Koref, K. J. Tricker, D. G. R. Evans, J. M. Varley, J. M. Birch, A. M. Kelsey, M. Thorncroft, G. Mcgown, Germ-Line Mutations of TP53 in Li-Fraumeni Families: An Extended Study of 39 Families Cancer Research. ,vol. 57, pp. 3245- 3252 ,(1997)
G. Berx, A. M. Cleton-Jansen, F. Nollet, W. J. de Leeuw, M. van de Vijver, C. Cornelisse, F. van Roy, E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. The EMBO Journal. ,vol. 14, pp. 6107- 6115 ,(1995) , 10.1002/J.1460-2075.1995.TB00301.X
Akseli Hemminki, David Markie, Ian Tomlinson, Egle Avizienyte, Stina Roth, Anu Loukola, Graham Bignell, William Warren, Maria Aminoff, Pia Höglund, Heikki Järvinen, Paula Kristo, Katarina Pelin, Maaret Ridanpää, Reijo Salovaara, Tumi Toro, Walter Bodmer, Sylviane Olschwang, Anne S Olsen, Michael R Stratton, Albert De La Chapelle, Lauri A Aaltonen, None, A serine/threonine kinase gene defective in Peutz–Jeghers syndrome Nature. ,vol. 391, pp. 184- 187 ,(1998) , 10.1038/34432
Parry Guilford, Justin Hopkins, James Harraway, Maybelle McLeod, Ngahiraka McLeod, Pauline Harawira, Huriana Taite, Robin Scoular, Andrew Miller, Anthony E. Reeve, E-cadherin germline mutations in familial gastric cancer Nature. ,vol. 392, pp. 402- 405 ,(1998) , 10.1038/32918
Mauro F. Santibáñez-Koref, Karen J. Tricker, Alison Condie, Derek Crowther, Jillian M. Birch, D. Gareth R. Evans, Ann L. Hartley, Jane Prosser, Alan W. Craft, Eileen Thompson, John Martin, Martin Harris, Patricia H. Morris Jones, Osborne B. Eden, Aine Binchy, Anna M. Kelsey, Jillian R. Mann, Erika L. D. Mitchell, Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Research. ,vol. 54, pp. 1298- 1304 ,(1994)
A Figer, A Kaplan, M Frydman, D Lev, J Paswell, MZ Papa, B Goldman, E Friedman, Germline mutations in the PTEN gene in Israeli patients with Bannayan–Riley–Ruvalcaba syndrome and women with familial breast cancer Clinical Genetics. ,vol. 62, pp. 298- 302 ,(2002) , 10.1034/J.1399-0004.2002.620407.X