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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease li-fraumeni syndrome
Comorbidity C0006142|breast cancer
Sentences 37
PubMedID- 20380571 The purpose of this study was to investigate the association between common variants of her-2 and p53 genes with breast cancer risk.
PubMedID- 25292094 Association of rs1219648 in fgfr2 and rs1042522 in tp53 with premenopausal breast cancer in an iranian azeri population.
PubMedID- 24261401 Breast sarcoma after breast-conserving therapy for breast cancer in a patient with li-fraumeni syndrome presenting as focal nonmasslike enhancement on mri.
PubMedID- 21570352 We therefore tested the hypothesis that taxanes confer a greater advantage than do anthracyclines on breast cancers with mutated tp53 than in those with wild-type tp53.
PubMedID- 23779253 Sporadic breast cancers with tp53 mutations or epigenetic silencing (hypermethylation), er- and pgr-negative status, an earlier age of onset and high tumor grade resemble phenotypically brca1 mutated cancers termed 'brcaness', those with no brca mutations but with a dysfunction of the dna repair system.
PubMedID- 24114315 We conducted a case-control study in order to investigate the association of rad51 135g>c and tp53 arg72pro polymorphisms with breast cancer in serbian women.48 brca negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included.
PubMedID- 21838531 Crosstalk between the fgfr2 and tp53 genes in breast cancer: data from an association study and epistatic interaction analysis.
PubMedID- 23079576 Conclusion: mutation status of tp53 in breast cancer involves wide ranging derangement of several pathways.
PubMedID- 24591761 In breast cancer, approximately 30% of patients display tp53 gene mutation, but this frequency fluctuates from more than 80% in basal-like to less than 15% in luminal-a subtypes [52].
PubMedID- 22768103 Previous studies suggested that breast cancers with tp53 mutations might be either resistant or sensitive to anticancer drugs.
PubMedID- 26226484 Genotype and haplotype analyses of tp53 gene in breast cancer patients: association with risk and clinical outcomes.
PubMedID- 22392042 breast cancers in tp53 mutation carriers recently have more often been reported to be hormone receptor and her-2 positive by immunohistochemistry and fish in small series.
PubMedID- 24687952 We used immunohistochemistry on cell lines and human breast cancers with known tp53 missense mutations and assessed the effects of each mutation with four structure-function prediction methods.
PubMedID- 23580068 Although two-thirds of breast cancers in women with tp53 mutations are her2+, we observed a low prevalence of germline tp53 mutations among unselected young women with her2+ breast cancer.
PubMedID- 25848941 Little is known regarding the histological characteristics of breast cancers associated with germline tp53 mutations, but the two studies that have examined the issue have only shown tumors of the ductal type - and none of the lobular type - out of a total of 48 cancers in mutation carriers [80,81].
PubMedID- 23509284 Among human breast cancers, elevated levels of met and stabilized tp53, indicative of mutation, correlate with highly proliferative tnbcs of poor outcome.
PubMedID- 22117567 In some families, sarcoma and breast cancer is associated with the li-fraumeni syndrome.
PubMedID- 20015931 Mutations of p53 gene in breast cancer in the egyptian province of dakahliya.
PubMedID- 22672556 Late onset li-fraumeni syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.
PubMedID- 24761875 Lack of association of intron 3 16 bp polymorphism of tp53 with breast cancer among iranian-azeri patients.
PubMedID- 19657731 The association of polymorphisms of tumor suppressor gene tp53 with breast cancer has widely been reported; however, the results are inconsistent.
PubMedID- 24625245 Nevertheless, the association of tp53 p.r337h mutation with breast cancer that we found is enough to lead us to suggest that tp53 p.r337h mutation screening should be conducted at the same time as brca testing and not necessarily only after patients have previously tested negative for brca gene mutations.
PubMedID- 21535297 The aim of this case report is to emphasize the importance of peri-diagnostic germline tp53 molecular testing in patients with early-onset breast cancer and its effect on the management and outcome of the disease.
PubMedID- 21921327 tp53 pin3 polymorphism associated with breast cancer risk in iranian women.
PubMedID- 23167364 Conclusion: we therefore conclude that mutations in exons 5-7 of p53 gene are rare causes of breast cancer among bengalee hindu caste females, and therefore of little help for genetic counseling and diagnostic purposes.
PubMedID- 21059199 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with li-fraumeni syndrome.
PubMedID- 23468244 Our results support an association for tp53 polymorphisms with breast cancer susceptibility in the syrian population.
PubMedID- 21336636 breast cancers with these tp53 non-hot spot mutations were associated with a significantly better prognosis when compared with tp53 mutations in conserved or structural domains [6].
PubMedID- 21761402 Early onset her2-positive breast cancer is associated with germline tp53 mutations.
PubMedID- 23276177 Three patients were at high risk for breast cancer because of prior breast cancer, li-fraumeni syndrome, or radiation for hodgkin disease.
PubMedID- 22405092 Immunohistochemical detection of polo-like kinase-1 (plk1) in primary breast cancer is associated with tp53 mutation and poor clinical outcom.
PubMedID- 25674498 The chek2 1100delc variant was found in women suffering from breast cancer with familial li-fraumeni syndrome (bell et al.
PubMedID- 23864708 Hoxa5 up-regulates expression of the p53 tumor suppressor gene in breast cancer cells (raman et al., 2000).
PubMedID- 22929185 Negative controls were obtained by omission of the primary antibody and by a breast cancer with negative tp53 expression detected by immunohistochemical analysis.
PubMedID- 25201062 Association of tp53 pin3 polymorphism with breast cancer in moroccan population.
PubMedID- 20805372 A novel her2-positive breast cancer phenotype arising from germline tp53 mutations.
PubMedID- 24238140 In addition, breast cancer patients with an inherited tp53 mutation are more likely to present with amplification of her2[38], and tp53 mutations result in expansion of primary premalignant mouse mammary stem cells[1].

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