Abstract:
:Although a significant proportion of familial aggregation of breast cancer remains unexplained, many of the currently known breast cancer susceptibility genes, including BRCA1, BRCA2 and TP53, play a role in maintaining genome integrity by engaging in DNA repair. RAD51L1 is one of the five RAD51 paralogs involved in homologous recombination (HR) repair of DNA double-strand breaks (DSBs); it also interacts directly with p53. Deleterious mutations have been found in one RAD51 paralog, RAD51C (RAD51L2), in non-BRCA1/2 breast and ovarian cancer families, which suggests that all five paralogs are strong candidate breast cancer susceptibility genes. A genome-wide association study (GWAS) has already identified a single nucleotide polymorphism (SNP) deep within intron 10 of RAD51L1 as a risk locus for breast cancer. Based on its biological functions and association with RAD51C, there is reason to suggest that RAD51L1 (RAD51B/REC2) may also contain high risk mutations in the gene that give rise to multiple-case breast cancer families. In order to investigate this hypothesis, we have used high resolution melt (HRM) analysis to screen RAD51L1 for germline mutations in 188 non-BRCA1/2 multiple-case breast cancer families and 190 controls. We identified a total of seven variants: one synonymous, three intronic, and three previously identified SNPs, but no truncating or nonsense changes. Therefore, our results suggest that RAD51L1 is unlikely to represent a high-penetrance breast cancer susceptibility gene.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Johnson J,Healey S,Khanna KK,kConFab.,Chenevix-Trench Gdoi
10.1007/s10549-011-1539-6subject
Has Abstractpub_date
2011-08-01 00:00:00pages
255-63issue
1eissn
0167-6806issn
1573-7217journal_volume
129pub_type
杂志文章abstract:PURPOSE:To evaluate the patterns of failure, relapse-free survival and overall survival among African American breast cancer patients younger than 40 years. PATIENTS AND METHODS:We retrospectively reviewed the records of 124 African American breast cancer patients younger than 40 years who were registered with the How...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1022161629156
更新日期:2003-03-01 00:00:00
abstract::The aim of this study was to assess the intensity of diagnostic testing and cancer treatment of 335 women with advanced breast cancer during their last 6 months before death between 1995 and 1998 in the Pirkanmaa and Satakunta health care districts and to compare it to the practice in earlier decades, the 1970s and 19...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-006-9224-x
更新日期:2006-11-01 00:00:00
abstract:PURPOSE:To assess the association between benign ovarian tumors and subsequent risk of breast cancer, and to examine this association according to type of benign ovarian tumors. METHODS:This nationwide cohort study comprised all Danish women diagnosed with a benign ovarian tumor during 1978-2016 (n = 158,221) identifi...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-019-05369-8
更新日期:2019-11-01 00:00:00
abstract:PURPOSE:The purpose of the study was to assess self-reported taste and smell perception after chemotherapy in breast cancer patients compared with women without cancer, and to assess whether taste and smell perception is associated with quality of life after the end of chemotherapy. METHODS:We included 135 newly diagn...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-4720-3
更新日期:2018-07-01 00:00:00
abstract:PURPOSE:The prognosis of elderly patients with hormone receptor-positive breast cancer is very good, and their survival is unaffected by performing breast-conserving surgery (BCS) without radiotherapy. Therefore, we aimed to verify that BCS without axillary lymph node dissection, sentinel lymph node biopsy, or radiothe...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-020-05686-3
更新日期:2020-07-01 00:00:00
abstract::Co-transfection studies indicate that HER2 (erbB-2) overexpression results in the phosphorylation and enhanced transcriptional activity of the androgen receptor (AR). This amplification of AR action is further enhanced by the expression of ARA70, a putative co-activator with a predilection for the AR. Because androgen...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1017938608460
更新日期:2001-06-01 00:00:00
abstract:PURPOSE:Vitamin D (VD) metabolism regulates adipose tissue, lipogenesis inflammation, and tumor growth. CYP24A1 is the key enzyme for metabolic inactivation of active VD (1,25(OH)2D3). We examined whether common germline single nucleotide polymorphisms (SNPs) in the CYP24A1 gene could affect the association between adu...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-019-05484-6
更新日期:2020-01-01 00:00:00
abstract::Discomfort during sexual activity is common after breast cancer. Vaginal estrogens are effective but commonly avoided due to systemic absorption. Despite the large commercial market for vaginal lubricants, no randomized studies have compared products. We aimed to compare efficacy and acceptability of two major types o...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10549-016-3865-1
更新日期:2016-07-01 00:00:00
abstract::Epidemiological studies on the association between SULT1A1 codon 213 polymorphism and breast cancer risk are inconclusive. In order to derive a more precise estimation of the association, a meta-analysis was conducted in this article. Sixteen studies including 9,881 cases and 13,564 controls were collected for SULT1A1...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,meta分析
doi:10.1007/s10549-010-0953-5
更新日期:2011-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10549-011-1776-8
更新日期:2012-01-01 00:00:00
abstract:PURPOSE:Estrogen exposure is involved in both breast cancer susceptibility and the prognosis in patients with breast cancer. Aromatase is involved in the production of estrogens, and altered expression of it might be associated with the prognosis. The aim of this study was to examine the effect of single nucleotide pol...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-007-9822-2
更新日期:2008-11-01 00:00:00
abstract::We have previously shown that human breast carcinoma cells demonstrating an interconverted phenotype, where keratin (epithelial marker) and vimentin (mesenchymal marker) intermediate filaments are both expressed, have an increased ability to invade a basement membrane matrix in vitro. This increase in invasive potenti...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1006188129423
更新日期:1999-05-01 00:00:00
abstract::The NSABP B-30 trial addresses whether amenorrhea after adjuvant chemotherapy increases survival. Preliminary to the trial outcome analysis, we examined the incidence of amenorrhea and its relationship to symptoms and quality of life (QOL) in the standard-care arm of this adjuvant breast cancer trial. Premenopausal wo...
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/s10549-008-9937-0
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Cardiac toxicity from anthracyclines (ACH) can lead to therapy discontinuation, hospitalization or congestive heart failure (CHF). Since such risk may vary by patient, we developed and tested a risk-prediction tool for cardiac toxicity in metastatic breast cancer (MBC) patients receiving chemotherapy with do...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-007-9803-5
更新日期:2008-02-01 00:00:00
abstract::Goserelin ('Zoladex'), a luteinizing hormone-releasing hormone (LHRH) agonist induces reversible ovarian ablation in premenopausal women. It is the most extensively studied LHRH agonist for the treatment of breast cancer and data from a large clinical trial program show that, alone or in combination with tamoxifen, go...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1023/a:1020309715942
更新日期:2002-10-01 00:00:00
abstract:BACKGROUND:The aim was to prove the low identification rate of sentinel lymph node biopsy (SNB) and to determine the feasibility of replacing axillary lymph node dissection (AND) in axillary lymph node positive patients after chemotherapy. METHODS:From October 2001 to July 2005, 875 consecutive patients with primary o...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章
doi:10.1007/s10549-006-9330-9
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:Videotaped education materials to teach breast self-examination (BSE) are used worldwide. However, evaluation of videotaped BSE instructions is lacking. METHODS:Premenopausal women (mean age 33.4+/-11.2 years) without history of breast cancer were approached to participate in this experimental study and ran...
journal_title:Breast cancer research and treatment
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1015264103561
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:Analysis of cytokines and growth factors in human milk offers a noninvasive approach for studying the microenvironment of the postpartum breast, which may better reflect tissue levels than testing blood samples. Given that Black women have a higher incidence of early-onset breast cancers than White women, we...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-4907-7
更新日期:2018-11-01 00:00:00
abstract:PURPOSE:Sexual dysfunction is reported in women with breast cancer (BC). It is unclear whether symptoms persist over time as data comparing long-term survivors to controls are lacking. We compared sexual functioning in long-term breast cancer survivors (BCS) to controls and determined the impact of adjuvant therapy on ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-018-4894-8
更新日期:2018-11-01 00:00:00
abstract::We previously identified a polymorphism in the human estrogen receptor (ER) gene, within the coding region for the protein's amino terminal B-domain. In estrogen receptor-positive (ER+) breast tumors, the variant allele was preferentially associated with lower levels of ER, and was clinically correlated with frequent ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01980941
更新日期:1991-10-01 00:00:00
abstract::Triple negative breast cancer (TNBC) is an aggressive clinical phenotype characterized by lack of expression (or minimal expression) of estrogen receptor (ER) and progesterone receptor (PR) as well as an absence of human epidermal growth factor receptor-2 (HER2) overexpression. It shows substantial overlap with basal-...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-010-1293-1
更新日期:2011-02-01 00:00:00
abstract::We previously identified a positive transcriptional element identical to human Ha-ras response element (HRE) within the promoter of the rat Ha-ras gene. We further identified CArG binding factor A (CBF-A), a member of heterogeneous nuclear ribonuclear protein (hnRNP) gene family, as a trans-acting factor that binds th...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-004-1280-5
更新日期:2004-11-01 00:00:00
abstract::Women at hereditary increased risk of breast cancer are subjected to frequent clinical breast examination (CBE) and radiological evaluation of the breasts. This review appraises the additional cancer yield by CBE in screening of women at increased risk of breast cancer who are also subjected to frequent radiological e...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1007/s10549-014-3074-8
更新日期:2014-08-01 00:00:00
abstract:AIMS:To determine whether IHC4 score assessed on pre-treatment core biopsies (i) predicts response to neo-adjuvant chemotherapy in ER-positive (ER+) breast cancer; (ii) provides more predictive information than Ki67 alone. METHODS:113 patients with ER+ primary breast cancer treated with neo-adjuvant chemotherapy at th...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-017-4266-9
更新日期:2017-07-01 00:00:00
abstract::Clinical practice guidelines recommend yearly surveillance mammography for breast cancer survivors, yet many women do not receive this service. The objective of this study was to evaluate factors related to long-term surveillance mammography adherence among breast cancer survivors. We conducted a retrospective cohort ...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-013-2816-3
更新日期:2014-02-01 00:00:00
abstract::The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspec...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-010-1036-3
更新日期:2011-06-01 00:00:00
abstract:INTRODUCTION:There has been a sharp rise in the rate of contralateral prophylactic mastectomy over the last decade, despite the low incidence of new primary cancers predicted for the contralateral breast. This study compares the postoperative complication rates between the diseased breast treated with mastectomy and th...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-019-05460-0
更新日期:2020-01-01 00:00:00
abstract::NSABP B-43 is the first prospective, randomized phase III multi-institution clinical trial targeting high-risk, HER2-positive DCIS. It compares whole breast irradiation alone with WBI given concurrently with trastuzumab in women with HER2-positive DCIS treated by lumpectomy. The primary aim is to determine if trastuzu...
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/s10549-013-2755-z
更新日期:2013-11-01 00:00:00
abstract::Aurora kinases (AKs) regulate multiple components of mitotic cell division in eukaryotic cells. Aurora A is frequently amplified or overexpressed in breast cancer cells leading to aberrant chromosome segregation, genomic instability, and activation of oncogenic pathways. In the present studies, we determined the effec...
journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/s10549-012-2171-9
更新日期:2012-09-01 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