Li–Fraumeni syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Li–Fraumeni syndrome" in English language version.

refsWebsite

Global rank English rank

30nih.gov

4^th place

18doi.org

2^nd place

1semanticscholar.org

11^th place

8^th place

1uptodate.com

3,771^st place

2,605^th place

1manchester.ac.uk

4,003^rd place

2,646^th place

1worldcat.org

5^th place

1lfsassociation.org

low place

doi.org

Custódio G, Parise GA, Kiesel Filho N, Komechen H, Sabbaga CC, Rosati R, et al. (July 2013). "Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors". Journal of Clinical Oncology. 31 (20): 2619–2626. doi:10.1200/JCO.2012.46.3711. PMC 3808236. PMID 23733769.
Li FP, Fraumeni JF (October 1969). "Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?". Annals of Internal Medicine. 71 (4): 747–752. doi:10.7326/0003-4819-71-4-747. PMID 5360287. S2CID 7540982.
Varley JM (March 2003). "Germline TP53 mutations and Li-Fraumeni syndrome". Human Mutation. 21 (3): 313–320. doi:10.1002/humu.10185. PMID 12619118.
Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. (December 2016). "Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort". Cancer. 122 (23): 3673–3681. doi:10.1002/cncr.30248. PMC 5115949. PMID 27496084.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, et al. (January 2019). "Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis". Human Mutation. 40 (1): 97–105. doi:10.1002/humu.23673. PMC 6296902. PMID 30352134.
Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP (April 1998). "Multiple primary cancers in families with Li-Fraumeni syndrome". Journal of the National Cancer Institute. 90 (8): 606–611. doi:10.1093/jnci/90.8.606. PMID 9554443.
Zerdoumi Y, Lanos R, Raad S, Flaman JM, Bougeard G, Frebourg T, et al. (July 2017). "Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage". Human Molecular Genetics. 26 (14): 2591–2602. doi:10.1093/hmg/ddx106. PMC 5886078. PMID 28369373.
Malkin D (2011). "Li-Fraumeni Syndrome". In Levine AJ (ed.). Genes and Cancer. Vol. 2. pp. 475–484. doi:10.1177/1947601911413466. PMC 3135649. PMID 21779515.
Ford JM, Hanawalt PC (September 1995). "Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance". Proceedings of the National Academy of Sciences of the United States of America. 92 (19): 8876–8880. doi:10.1073/pnas.92.19.8876. PMC 41070. PMID 7568035.
Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, et al. (November 1990). "Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms". Science. 250 (4985): 1233–1238. doi:10.1126/science.1978757. PMID 1978757.
Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH (December 1990). "Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome". Nature. 348 (6303): 747–749. doi:10.1038/348747a0. PMID 2259385.
Li FP, Garber JE, Dreyfus MG, Blattner WA, Fraumeni JF, Sandberg AA (January 1990). "Follow-up of cancer family with in-vitro radioresistance". Lancet. 335 (8682): 176–177. doi:10.1016/0140-6736(90)90056-b. PMID 1967474.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. (July 2015). "Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers". Journal of Clinical Oncology. 33 (21): 2345–2352. doi:10.1200/JCO.2014.59.5728. PMID 26014290.
Birch JM, Heighway J, Teare MD, Kelsey AM, Hartley AL, Tricker KJ, et al. (December 1994). "Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53". British Journal of Cancer. 70 (6): 1176–1181. doi:10.1038/bjc.1994.468. PMC 2033684. PMID 7981072.
Eeles RA (January 1993). "Predictive testing for germline mutations in the p53 gene: are all the questions answered?". European Journal of Cancer. 29A (10): 1361–1365. doi:10.1016/0959-8049(93)90001-v. PMID 8398258.
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, et al. (June 2017). "Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome". Clinical Cancer Research. 23 (11): e38–e45. doi:10.1158/1078-0432.CCR-17-0408. PMID 28572266.
Villani A, Shore A, Wasserman JD, Stephens D, Kim RH, Druker H, et al. (September 2016). "Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study". The Lancet. Oncology. 17 (9): 1295–1305. doi:10.1016/S1470-2045(16)30249-2. PMID 27501770.
Plumridge G, Metcalfe A, Coad J, Gill P (September 2012). "The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information". Health Expectations. 15 (3): 255–266. doi:10.1111/j.1369-7625.2011.00663.x. ISSN 1369-7625. PMC 5060625. PMID 21332619.

lfsassociation.org

Association LF. "Home". LFS Association. Retrieved 2024-07-20.

manchester.ac.uk

pure.manchester.ac.uk

Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, et al. (June 2017). "Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome". Clinical Cancer Research. 23 (11): e38–e45. doi:10.1158/1078-0432.CCR-17-0408. PMID 28572266.

nih.gov

pubmed.ncbi.nlm.nih.gov

Custódio G, Parise GA, Kiesel Filho N, Komechen H, Sabbaga CC, Rosati R, et al. (July 2013). "Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors". Journal of Clinical Oncology. 31 (20): 2619–2626. doi:10.1200/JCO.2012.46.3711. PMC 3808236. PMID 23733769.
Li FP, Fraumeni JF (October 1969). "Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?". Annals of Internal Medicine. 71 (4): 747–752. doi:10.7326/0003-4819-71-4-747. PMID 5360287. S2CID 7540982.
Aedma SK, Kasi A (2024). "Li-Fraumeni Syndrome". StatPearls. StatPearls Publishing. PMID 30335319.
Varley JM (March 2003). "Germline TP53 mutations and Li-Fraumeni syndrome". Human Mutation. 21 (3): 313–320. doi:10.1002/humu.10185. PMID 12619118.
Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. (December 2016). "Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort". Cancer. 122 (23): 3673–3681. doi:10.1002/cncr.30248. PMC 5115949. PMID 27496084.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, et al. (January 2019). "Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis". Human Mutation. 40 (1): 97–105. doi:10.1002/humu.23673. PMC 6296902. PMID 30352134.
Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP (April 1998). "Multiple primary cancers in families with Li-Fraumeni syndrome". Journal of the National Cancer Institute. 90 (8): 606–611. doi:10.1093/jnci/90.8.606. PMID 9554443.
Zerdoumi Y, Lanos R, Raad S, Flaman JM, Bougeard G, Frebourg T, et al. (July 2017). "Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage". Human Molecular Genetics. 26 (14): 2591–2602. doi:10.1093/hmg/ddx106. PMC 5886078. PMID 28369373.
Malkin D (2011). "Li-Fraumeni Syndrome". In Levine AJ (ed.). Genes and Cancer. Vol. 2. pp. 475–484. doi:10.1177/1947601911413466. PMC 3135649. PMID 21779515.
Ford JM, Hanawalt PC (September 1995). "Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance". Proceedings of the National Academy of Sciences of the United States of America. 92 (19): 8876–8880. doi:10.1073/pnas.92.19.8876. PMC 41070. PMID 7568035.
Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, et al. (November 1990). "Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms". Science. 250 (4985): 1233–1238. doi:10.1126/science.1978757. PMID 1978757.
Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH (December 1990). "Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome". Nature. 348 (6303): 747–749. doi:10.1038/348747a0. PMID 2259385.
Li FP, Garber JE, Dreyfus MG, Blattner WA, Fraumeni JF, Sandberg AA (January 1990). "Follow-up of cancer family with in-vitro radioresistance". Lancet. 335 (8682): 176–177. doi:10.1016/0140-6736(90)90056-b. PMID 1967474.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. (July 2015). "Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers". Journal of Clinical Oncology. 33 (21): 2345–2352. doi:10.1200/JCO.2014.59.5728. PMID 26014290.
Birch JM, Heighway J, Teare MD, Kelsey AM, Hartley AL, Tricker KJ, et al. (December 1994). "Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53". British Journal of Cancer. 70 (6): 1176–1181. doi:10.1038/bjc.1994.468. PMC 2033684. PMID 7981072.
Eeles RA (January 1993). "Predictive testing for germline mutations in the p53 gene: are all the questions answered?". European Journal of Cancer. 29A (10): 1361–1365. doi:10.1016/0959-8049(93)90001-v. PMID 8398258.
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, et al. (June 2017). "Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome". Clinical Cancer Research. 23 (11): e38–e45. doi:10.1158/1078-0432.CCR-17-0408. PMID 28572266.
Villani A, Shore A, Wasserman JD, Stephens D, Kim RH, Druker H, et al. (September 2016). "Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study". The Lancet. Oncology. 17 (9): 1295–1305. doi:10.1016/S1470-2045(16)30249-2. PMID 27501770.
Vogel WH (2017). "Li-Fraumeni Syndrome". Journal of the Advanced Practitioner in Oncology. 8 (7): 742–746. PMC 6188099. PMID 30333936.
Plumridge G, Metcalfe A, Coad J, Gill P (September 2012). "The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information". Health Expectations. 15 (3): 255–266. doi:10.1111/j.1369-7625.2011.00663.x. ISSN 1369-7625. PMC 5060625. PMID 21332619.

ncbi.nlm.nih.gov

Custódio G, Parise GA, Kiesel Filho N, Komechen H, Sabbaga CC, Rosati R, et al. (July 2013). "Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors". Journal of Clinical Oncology. 31 (20): 2619–2626. doi:10.1200/JCO.2012.46.3711. PMC 3808236. PMID 23733769.
Aedma SK, Kasi A (2024). "Li-Fraumeni Syndrome". StatPearls. StatPearls Publishing. PMID 30335319.
Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. (December 2016). "Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort". Cancer. 122 (23): 3673–3681. doi:10.1002/cncr.30248. PMC 5115949. PMID 27496084.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, et al. (January 2019). "Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis". Human Mutation. 40 (1): 97–105. doi:10.1002/humu.23673. PMC 6296902. PMID 30352134.
Zerdoumi Y, Lanos R, Raad S, Flaman JM, Bougeard G, Frebourg T, et al. (July 2017). "Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage". Human Molecular Genetics. 26 (14): 2591–2602. doi:10.1093/hmg/ddx106. PMC 5886078. PMID 28369373.
Malkin D (2011). "Li-Fraumeni Syndrome". In Levine AJ (ed.). Genes and Cancer. Vol. 2. pp. 475–484. doi:10.1177/1947601911413466. PMC 3135649. PMID 21779515.
Ford JM, Hanawalt PC (September 1995). "Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance". Proceedings of the National Academy of Sciences of the United States of America. 92 (19): 8876–8880. doi:10.1073/pnas.92.19.8876. PMC 41070. PMID 7568035.
Birch JM, Heighway J, Teare MD, Kelsey AM, Hartley AL, Tricker KJ, et al. (December 1994). "Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53". British Journal of Cancer. 70 (6): 1176–1181. doi:10.1038/bjc.1994.468. PMC 2033684. PMID 7981072.
Vogel WH (2017). "Li-Fraumeni Syndrome". Journal of the Advanced Practitioner in Oncology. 8 (7): 742–746. PMC 6188099. PMID 30333936.
Plumridge G, Metcalfe A, Coad J, Gill P (September 2012). "The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information". Health Expectations. 15 (3): 255–266. doi:10.1111/j.1369-7625.2011.00663.x. ISSN 1369-7625. PMC 5060625. PMID 21332619.

semanticscholar.org

api.semanticscholar.org

Li FP, Fraumeni JF (October 1969). "Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?". Annals of Internal Medicine. 71 (4): 747–752. doi:10.7326/0003-4819-71-4-747. PMID 5360287. S2CID 7540982.

uptodate.com

Evans DG, Hanson H (13 March 2024). "Li-Fraumeni syndrome". UpToDate. Wolters Kluwer. Retrieved 20 August 2024.

worldcat.org

search.worldcat.org

Plumridge G, Metcalfe A, Coad J, Gill P (September 2012). "The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information". Health Expectations. 15 (3): 255–266. doi:10.1111/j.1369-7625.2011.00663.x. ISSN 1369-7625. PMC 5060625. PMID 21332619.