Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites

Keywords

Li–Fraumeni syndrome, Germline, Germline mutation, Breast cancer, Mutation

References

• How many more breast cancer predisposition genes are there?Ángel Silva Ruiz — 1999
• A low proportion of BRCA2 mutations in Finnish breast cancer families.Paula Vehmanen, Lori S. Friedman, Hannaleena Eerola — 1997
• Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.J M Varley, Gail McGown, Mary Thorncroft — 1997
• Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.John Birch, A L Hartley, K J Tricker — 1994
• The genetic attributable risk of breast and ovarian cancerElizabeth B. Claus, Joellen M. Schildkraut, W. Douglas Thompson — 1996
• A p53-dependent mouse spindle checkpointShawn M. Cross, Carissa A. Sanchez, Catherine Morgan — 1995
• Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2.Pia Huusko, Katariina Castrén, Virpi Launonen — 1999
• Li-Fraumeni syndrome--a molecular and clinical review.J M Varley, D. Gareth Evans, Jillian M. Birch — 1997
• Mutations in p53 do not account for heritable breast cancer: a study in five affected families.J. Prosser, PA Elder, Alison Condie — 1991
• Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.M Zelada-Hedman, A‐L Børresen‐Dale, A.V. Ojeda Claro — 1997
• Founding mutations and Alu-mediated recombination in hereditary colon cancerMinna Nyström, Paula Kristo, Nicholas C. Nicolaides — 1995
• Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in FinlandLaura Sarantaus, Pia Huusko, Hannaleena Eerola — 2000
• High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer familiesTapan Ganguly, Rohini Dhulipala, Lynn Godmilow — 1998
• Identification of the breast cancer susceptibility gene BRCA2Richard Wooster, Graham R. Bignell, Jonathan Lancaster — 1995
• Evidence of founder mutations in Finnish BRCA1 and BRCA2 families.Pia Huusko, Kati Pääkkönen, Virpi Launonen — 1998
• Screening for germline mutations of the p53 gene in familial breast cancer patientsUmesh A. Patel, M. Perry, Colyn Crane‐Robinson — 1995
• p53 mutations in human cancers.Monica Hollstein, David Sidransky, Bert Vogelstein — 1991
• P53 mutations associated with breast, colorectal, liver, lung, and ovarian cancers.Tamar Lasky, Ellen K. Silbergeld — 1996
• From gels to chips: “Minisequencing” primer extension for analysis of point mutations and single nucleotide polymorphismsAnn-Christine Syv�nen — 1999
• High frequency of germline p53 mutations in childhood adrenocortical cancer.Joachim Wagner, Carol Portwine, Karen R. Rabin — 1994

Cited by

• TP53, hChk2, and the Li-Fraumeni syndrome.Jenny Varley — 2003
• Mutation analysis of the CHK2 gene in families with hereditary breast cancerMinna Allinen, Pia Huusko, Samu Mäntyniemi — 2001
• The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?FSM Hilbers, MPG Vreeswijk, CJ van Asperen — 2013
• Mutation analysis of the ATR gene in breast and ovarian cancer familiesKatri Heikkinen, Virpi Mansikka, Sanna‐Maria Karppinen — 2005
• Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families.Katrin Rapakko, Katri Heikkinen, Sanna‐Maria Karppinen — 2006
• Genetic susceptibility for breast cancer: how many more genes to be found?Reinhard Oldenburg, Hanne Meijers‐Heijboer, Cees J. Cornelisse — 2007
• Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer.Sanna‐Maria Karppinen, Hannele Erkko, Kaarina Reini — 2006
• Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese populationA‐Yong Cao, Wei Jin, Pengcheng Shi — 2009
• Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.Shih-Jen Hwang, Guillermina Lozano, Christopher I. Amos — 2003
• Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer familiesSuzanna L. Arcand, Christine M. Maugard, Parviz Ghadirian — 2008
• p53 tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li–Fraumeni syndrome and a child with adrenocortical carcinomaŁ Fiszer‐Maliszewska, Bernarda Kazanowska, Joanna Padzik — 2009
• Mutation analysis of the AATF gene in breast cancer familiesMaria K. Haanpää, Mervi Reiman, Jenni Nikkilä — 2009
• Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinicGabriel A. Brooks, Jill E. Stopfer, Julie Erlichman — 2006
• Mutations in families at high risk for breast cancer.Peter Cheung — 2006
• Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families.Jaana Lahti‐Domenici, Katrin Rapakko, Kati Pääkkönen — 2001
• No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.Sanna‐Maria Karppinen, Jaana Vuosku, Katri Heikkinen — 2003
• Frequency of the CHEK2 1100delC Mutation in Korean Women with Early Onset Breast CancerDoo Ho Choi, Dae Yeon Cho, Min Hyuk Lee — 2008
• Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?A-M Martin, P A Kanetsky, B Amirimani — 2003
• A potential role for targeted therapy in a subset of metastasizing adnexal carcinomasDora Dias-Santagata, Quynh Lam, Kristin Bergethon — 2011
• Breast cancer predisposition syndromes.Deborah Hemel, Susan M. Domchek — 2010

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