The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

Keywords

Li–Fraumeni syndrome, Germline, Human genetics, Germline mutation, Genetics

References

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• Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancerYong‐Xin Guo, Xuemei Zhang, Ming Yang — 2010
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• Mutations in the mitotic check point gene, MAD1L1, in human cancersKunihiro Tsukasaki, Carl W. Miller, Erin Greenspun — 2001
• TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosisVirginie Marcel, Edenir Inêz Palmero, Priscila Falagan-Lotsch — 2009
• Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.David Malkin, Frederick P. Li, Louise C. Strong — 1990
• Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?Frederick P. Li, JOSEPH F. FRAUMENI — 1969
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• Highly penetrant hereditary cancer syndromesRebecca Nagy, Kevin Sweet, Charis Eng — 2004
• Relative frequency and morphology of cancers in carriers of germline TP53 mutationsJillian M. Birch, Robert D Alston, Richard McNally — 2001
• The p53 mutation “gradient effect” and its clinical implicationsGerard P. Zambetti — 2007
• MLL translocations, histone modifications and leukaemia stem-cell developmentAndrei V. Krivtsov, Scott A. Armstrong — 2007
• An experimental loop design for the detection of constitutional chromosomal aberrations by array CGHJoke Allemeersch, Steven Van Vooren, Femke Hannes — 2009
• Sensitivity and predictive value of criteria for p53germline mutation screeningAgnès Chompret, Anne S. Abel, Dominique Stoppa‐Lyonnet — 2001
• Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplificationDavid J. Bunyan, Diana Eccles, Julie Sillibourne — 2004

Cited by

• Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome.Tatiane Ramos Basso, Rolando André Rios Villacis, Luísa Matos do Canto — 2015
• A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like familiesOriol Calvete, Paula Martínez, Pablo García‐Pavía — 2015
• Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental?Michal Bahar, Uwe Kordes, Tanya Tekautz — 2015
• Role of rare germline copy number variation in melanoma-prone patients.Felipe Fidalgo, Tatiane Cristina Rodrigues, Amanda Gonçalves Silva — 2016
• Comprehensive Analysis of Genome Rearrangements in Eight Human Malignant Tumor TissuesStefanie Marczok, Birgit Bortz, Chong Wang — 2016
• Identification of miRNA and genes involving in osteosarcoma by comprehensive analysis of microRNA and copy number variation dataT. Luo, Xiangli Yi, Si Wei — 2017
• Pediatric cancer geneticsSarah J Dean, Meagan Farmer — 2017
• Frequency of the TP53 R337H variant in sporadic breast cancer and its impact on genomic instabilityCarolina Mathias, Stéfanne Bortoletto, Ariana Centa — 2020
• Identification of a Novel Mutation in Hereditary Breast Cancer in a Family with Wide Spectrum of Atypical MalignanciesТ. В. Кекеева, Amulang Shikeeva, Alexander Tanas — 2021
• Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case reportAlexander Puzik, Markus Uhl, Juri Ruf — 2021
• Cancer and Genomic InstabilityWei Wei, Y. Cheng, Y. Cheng — 2016
• Cancer and genomic instabilityI. Kovalchuk — 2021

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