Abstract:
:To report on a highly unusual case of a 20-year-old woman who presented with multifocal metaplastic breast cancer and was subsequently found to carry deleterious germline mutations in both BRCA1 and p53. Genetic testing was requested on an expedited basis to assist in surgical decision-making and BRCA1/2 and p53 genetic analysis was ordered concurrently. BRCA1/2 and p53 analyses were completed using a combination of direct DNA sequencing and multiplex ligation probe amplification (MLPA). The patient was found to carry a deletion of exon 3 of the BRCA1 gene and a splice site mutation at the exon4/intron4 boundary of the p53 gene. To our knowledge, this is the first report of double heterozygosity in BRCA1 and p53. The patient's clinical presentation is highly reminiscent of that predicted by preclinical mouse models. In patients with early onset breast cancer, the possibility of germline mutations in more than one cancer susceptibility gene should be considered. This could have important clinical implications for patients and their at-risk family members.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Bell K,Hodgson N,Levine M,Sadikovic B,Zbuk Kdoi
10.1007/s10549-014-3011-xsubject
Has Abstractpub_date
2014-07-01 00:00:00pages
447-50issue
2eissn
0167-6806issn
1573-7217journal_volume
146pub_type
杂志文章abstract::Current evidence suggests that the majority of DCIS lesions do not progress to invasive carcinoma, and overtreatment of DCIS is a significant problem. We previously reported an 8-gene signature that differentiated microdissected low-grade (LG) DCIS lesions with and without associated stromal invasion, based on differe...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-016-3838-4
更新日期:2016-06-01 00:00:00
abstract::A minority of early invasive breast cancers show a pattern of central necrosis and fibrosis (CNF). Previous studies have documented an adverse prognostic impact and association with other adverse pathological features, but its predictive importance for therapy selection is unknown. We examined the prognostic and predi...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s10549-009-0360-y
更新日期:2010-05-01 00:00:00
abstract::Metformin may exert anti-cancer effects through indirect (insulin-mediated) or direct (insulin-independent) mechanisms. We report results of a neoadjuvant "window of opportunity" study of metformin in women with operable breast cancer. Newly diagnosed, untreated, non-diabetic breast cancer patients received metformin ...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
doi:10.1007/s10549-012-2223-1
更新日期:2012-10-01 00:00:00
abstract::Digital breast tomosynthesis (DBT) is emerging as the new standard of care for breast cancer screening based on improved cancer detection coupled with reductions in recall compared to screening with digital mammography (DM) alone. However, many prior studies lack follow-up data to assess false negatives examinations. ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-016-3695-1
更新日期:2016-02-01 00:00:00
abstract::To further clarify risk factors for breast cancer in Japanese women, a self-administered questionnaire was completed by 157 cases with histologically confirmed breast cancer from 1989 to 1993 and by 369 age and residential area matched controls in Gifu, Japan. Conditional logistic regression model was used to assess t...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1005745824388
更新日期:1997-03-01 00:00:00
abstract:PURPOSE:To investigate and compare the effects of mobile health (mHealth) and pedometer with conventional exercise program using a brochure on physical function and quality of life (QOL). METHODS:The study was a prospective, quasi-randomized multicenter trial where 356 patients whose cancer treatment had been terminat...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1007/s10549-016-4065-8
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:To investigate the correlation among some of the commonly used clinical, pathological factors and newer biological indicators, and to identify the independent predictors of distant metastasis at presentation in patients with breast cancer. METHODS:The pathological specimens from 73 patients with breast canc...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1012269804578
更新日期:2001-08-01 00:00:00
abstract::Intraoperative radiotherapy with electrons (ELIOT) after conservative surgery for breast carcinoma was introduced at the IEO in 1999 as a research programme. The results on 1,822 patients treated from January 2000 to December 2008 are reported. Women with unicentric primary breast carcinoma of less than 2.5 cm in the ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-010-1115-5
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:The main objectives of this study were to identify risk factors for local in-breast tumor recurrence after breast-conservation and to evaluate the impact of IBTR (in-breast tumor recurrence) on overall survival. METHODS:A total of 335 consecutive patients with 346 invasive and in situ breast cancers were treat...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
doi:10.1007/s10549-008-0187-y
更新日期:2009-07-01 00:00:00
abstract::The biology of breast cancer in Japan appears to be changing in that, while post-menopausal Japanese patients have a better prognosis than comparable British women, no differences in recurrence or survival rates can now be found in pre-menopausal patients. ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF02633545
更新日期:1991-05-01 00:00:00
abstract::Published data on the association between Xeroderma Pigmentosum complementation group D (XPD) Lys751Gln polymorphism and breast cancer risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. Crude ORs with 95% CIs were used to assess the strength of association be...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析
doi:10.1007/s10549-010-0813-3
更新日期:2010-11-01 00:00:00
abstract::The regulation of gene expression by steroid hormones plays an important role in the normal development and function of many organs, as well in the pathogenesis of endocrine-related cancers. Previous experiments have shown that many kallikrein genes are under steroid hormone regulation in breast cancer cell lines. We ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-006-9312-y
更新日期:2007-03-01 00:00:00
abstract:PURPOSE:We studied which, age of the patient or density of the breast accounts for the sensitivity of mammography and ultrasonography (US). Furthermore we studied whether the overall impression on the density of the breast or the density in tumour area accounts for the sensitivity of mammography and ultrasonography. M...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1010627527026
更新日期:2001-05-01 00:00:00
abstract::Animal models have contributed to our understanding of breast cancer, with publication of results in high-impact journals almost invariably requiring extensive in vivo experimentation. As such, many laboratories hold large collections of surplus animal material, with only a fraction being used in publications relating...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-016-3785-0
更新日期:2016-04-01 00:00:00
abstract:PURPOSE:We have reported a survival benefit of single injection of hydroxyprogesterone prior to surgery for primary tumour in patients with node-positive operable breast cancer. Hydroxyprogesterone was meant to recapitulate the luteal phase of menstrual cycle in these women. We wanted to understand the molecular basis ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-4749-3
更新日期:2018-07-01 00:00:00
abstract::The potential advantage of using quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) methodology to detect metastasis in sentinel lymph nodes (SLNs) of breast cancer (BC) patients was evaluated in this prospective study. We measured the expression of relevant gene transcripts in SLNs using an innova...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-011-1710-0
更新日期:2011-12-01 00:00:00
abstract::Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after BRCA1 and BRCA2 screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual BRCA1/2 variants of unce...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-008-0244-6
更新日期:2010-01-01 00:00:00
abstract:PURPOSE:Insertion of radiopaque markers is helpful for tumor localization in patients receiving neoadjuvant chemotherapy (NAC) followed by breast-conserving surgery (BCS). The aim of this retrospective study was to investigate the pathologic margin status in patients with single or double marker insertion. METHODS:We ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05907-9
更新日期:2020-12-01 00:00:00
abstract::The Save Our Sisters Project builds on the roles of 95 "natural helpers" to increase mammography screening among older African American women in a NC county. Natural helpers are lay people to whom others naturally turn for advice, emotional support, and tangible aid. Findings from 14 focus group interviews showed that...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00694741
更新日期:1995-07-01 00:00:00
abstract:PURPOSE:Breast tumors from young women under the age of 40 account for approximately 7% of cases and have a poor prognosis independent of established prognostic factors. We evaluated the patient population served by the Military Health System, where a disproportionate number of breast cancer cases in young women are se...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-017-4615-8
更新日期:2018-04-01 00:00:00
abstract::Nicotine, a main addictive compound in tobacco smoke, has been linked to promotion and progression of lung, head and neck, pancreatic, and breast cancers, but the detailed mechanisms of cancer progression remain elusive. Here, we show that nicotine induces the expression of galectin-3 (an anti-apoptotic β-galactoside-...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-014-2912-z
更新日期:2014-05-01 00:00:00
abstract::Ductal carcinoma in situ (intraductal carcinoma) of the breast is a commonly recognized and curable clinical entity. Patients with intraductal carcinoma are at risk to develop invasive breast cancer presumably due to a transition from the noninvasive to the invasive phase of growth. Primary breast malignancies commonl...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00689717
更新日期:1995-06-01 00:00:00
abstract:BACKGROUND:At the present time, there is no consensus on the association between benign thyroid diseases and breast cancer (BC). Therefore, the aim of this study is to help shed some light on the association between hyperthyroidism, hypothyroidism, and thyroiditis and breast cancer risk. METHODS:Use of the Disease Ana...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05675-6
更新日期:2020-07-01 00:00:00
abstract::Many genetic abnormalities disclosed even in somatic cells like peripheral blood lymphocytes may mark footprint(s) of malignancy(ies). The present cytogenetic study on peripheral blood lymphocytes of sporadic breast cancer patients (n = 20) and their first degree relatives (n = 39) reports abnormalities of chromosomes...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1005951125574
更新日期:1998-03-01 00:00:00
abstract::It is still controversial whether the identification of micrometastases and isolated tumor cells in the axillary lymph nodes of patients with breast cancer has any prognostic value. We evaluated the prognostic role of isolated tumor cells and micrometastases in the axillary lymph nodes in 3,158 consecutive patients pT...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-009-0446-6
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:The homeobox (HOX) family consists of 39 genes whose expressions are tightly controlled and coordinated within the family, during development. We performed a comprehensive analysis of this gene family in cancer settings. METHODS:Gene correlation analysis was performed using breast cancer data available in T...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-06087-2
更新日期:2021-01-18 00:00:00
abstract::A model for a more precise prognosis of the risk of relapse is needed to avoid overtreatment of lymph node-negative breast cancer patients. A large derivation data set (n = 684) was generated by pooling three independent breast cancer expression microarray data sets. Two major prognostic factors, proliferation and imm...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-011-1626-8
更新日期:2012-04-01 00:00:00
abstract:PURPOSE:Cardiac dysfunction risk associated with intravenous trastuzumab (H IV) treatment may differ in real-world practice versus randomized trials. We investigated cardiac events in patients with HER2-positive early breast cancer (EBC) treated with H IV as adjuvant therapy in routine practice. METHODS:The observatio...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-5058-6
更新日期:2019-02-01 00:00:00
abstract::The prognostic significance of estradiol (ER) and progesterone receptors (PgR) for survival from relapse has been studied in two groups of breast cancer patients: group 1, 35 patients in whom receptor levels were measured at the time of mastectomy; group II, 49 patients in whom receptor levels were measured at the tim...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01805988
更新日期:1985-01-01 00:00:00
abstract::There has been increasing interest in the role of cultural and ethnic factors in breast cancer risk perceptions and screening practices. This study examined ethnic differences in breast cancer risk perception in 112 African American and 224 white women ages 35 and older who had at least one first-degree relative diagn...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究
doi:10.1007/BF01806000
更新日期:1996-01-01 00:00:00