Literature DB >> 36219266

A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.

Masaya Kai1, Makoto Kubo2,3, Sawako Shikada4, Saori Hayashi1,4, Takafumi Morisaki1, Mai Yamada1, Yuka Takao1, Akiko Shimazaki1, Yurina Harada1, Kazuhisa Kaneshiro1, Yusuke Mizuuchi1,4, Koji Shindo1, Masafumi Nakamura1.   

Abstract

TP53 is a tumor suppressor gene and, when dysfunctional, it is known to be involved in the development of cancers. Li-Fraumeni syndrome (LFS) is a hereditary tumor with autosomal dominant inheritance that develops in people with germline pathogenic variants of TP53. LFS frequently develops in parallel to tumors, including breast cancer. We describe a novel germline mutation in TP53 identified by performing a multi-gene panel assay in a breast cancer patient with bilateral breast cancer.
© 2022. The Author(s).

Entities:  

Keywords:  Breast cancer; Genetic medicine; Genetic testing; Hereditary cancer; Li–Fraumeni syndrome; Multi-gene panel assay; TP53 pathogenic variant

Year:  2022        PMID： 36219266      PMCID： PMC9554102          DOI： 10.1186/s40792-022-01546-y

Source DB:  PubMed          Journal:  Surg Case Rep        ISSN： 2198-7793


  20 in total

1.  Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Authors:  Phuong L Mai; Ana F Best; June A Peters; Rosamma M DeCastro; Payal P Khincha; Jennifer T Loud; Renée C Bremer; Philip S Rosenberg; Sharon A Savage
Journal:  Cancer       Date:  2016-08-06       Impact factor: 6.860

2.  Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO.

Authors:  Gang Peng; Jasmina Bojadzieva; Mandy L Ballinger; Jialu Li; Amanda L Blackford; Phuong L Mai; Sharon A Savage; David M Thomas; Louise C Strong; Wenyi Wang
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2017-01-30       Impact factor: 4.254

3.  Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Authors:  Huma Q Rana; Rebecca Gelman; Holly LaDuca; Rachel McFarland; Emily Dalton; Jennifer Thompson; Virginia Speare; Jill S Dolinsky; Elizabeth C Chao; Judy E Garber
Journal:  J Natl Cancer Inst       Date:  2018-08-01       Impact factor: 13.506

4.  A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.

Authors:  Eran Kotler; Odem Shani; Guy Goldfeld; Maya Lotan-Pompan; Ohad Tarcic; Anat Gershoni; Thomas A Hopf; Debora S Marks; Moshe Oren; Eran Segal
Journal:  Mol Cell       Date:  2018-07-05       Impact factor: 17.970

5.  Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

Authors:  Kelly D Gonzalez; Katie A Noltner; Carolyn H Buzin; Dongqing Gu; Cindy Y Wen-Fong; Vu Q Nguyen; Jennifer H Han; Katrina Lowstuter; Jeffrey Longmate; Steve S Sommer; Jeffrey N Weitzel
Journal:  J Clin Oncol       Date:  2009-02-09       Impact factor: 44.544

Review 6.  Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome.

Authors:  Amina Amadou; Maria I W Achatz; Pierre Hainaut
Journal:  Curr Opin Oncol       Date:  2018-01       Impact factor: 3.645

7.  Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

Authors:  Shunsuke Kato; Shuang-Yin Han; Wen Liu; Kazunori Otsuka; Hiroyuki Shibata; Ryunosuke Kanamaru; Chikashi Ishioka
Journal:  Proc Natl Acad Sci U S A       Date:  2003-06-25       Impact factor: 11.205

8.  Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

Authors:  D Malkin; F P Li; L C Strong; J F Fraumeni; C E Nelson; D H Kim; J Kassel; M A Gryka; F Z Bischoff; M A Tainsky
Journal:  Science       Date:  1990-11-30       Impact factor: 47.728

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 10.  Uncovering the role of p53 splice variants in human malignancy: a clinical perspective.

Authors:  Sylvanie Surget; Marie P Khoury; Jean-Christophe Bourdon
Journal:  Onco Targets Ther       Date:  2013-12-19       Impact factor: 4.147
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