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Sökning: WFRF:(Arver Brita)

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1.
  • Antoniou, Antonis C., et al. (författare)
  • Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
  • 2011
  • Ingår i: Human Molecular Genetics. - Oxford University Press. - 0964-6906. ; 20:16, s. 3304-3321
  • Tidskriftsartikel (refereegranskat)abstract
    • Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
2.
  • Antoniou, Antonis C., et al. (författare)
  • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
  • 2012
  • Ingår i: Breast Cancer Research. - BioMed Central. - 1465-5411. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10(-4)). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10(-5), P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df P = 0.007; rs1292011 2df P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10(-5)) and there was marginal evidence of association with ER- negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.
3.
  • Antoniou, Antonis C., et al. (författare)
  • Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Cohort Study
  • 2009
  • Ingår i: Cancer Epidemiology Biomarkers & Prevention. - American Association for Cancer Research. - 1538-7755. ; 18:2, s. 601-610
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Several reproductive and hormonal factors are known to be associated with ovarian cancer risk in the general population, including parity and oral contraceptive (00 use. However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies. Methods: We used data on 2,281. BRCA1. carriers and 1,038 BRCA2 carriers from the International BRCA1/2 Carrier Cohort Study to evaluate the effect of reproductive and hormonal factors on ovarian cancer risk for mutation carriers. Data were analyzed within a weighted Cox proportional hazards framework. Results: There were no significant differences in the risk of ovarian cancer between parous and nulliparous carriers. For parous BRCA1 mutation carriers, the risk of ovarian cancer was reduced with each additional full-term pregnancy (P trend = 0.002). BRCA1 carriers who had ever used OC were at a significantly reduced risk of developing ovarian cancer (hazard ratio, 0.52; 95% confidence intervals, 0.37-0.73; P = 0.0002) and increasing duration of OC use was associated with a reduced ovarian cancer risk (P trend = 0.0004). The protective effect of OC use for BRCA1 mutation carriers seemed to be greater among more recent users. Tubal ligation was associated with a reduced risk of ovarian cancer for BRCA1 carriers (hazard ratio, 0.42; 95% confidence intervals, 0.22-0.80; P = 0.008). The number of ovarian cancer cases in BRCA2 mutation carriers was too small to draw definitive conclusions. Conclusions: The results provide further confirmation that OC use, number of full-term pregnancies, and tubal ligation are associated with ovarian cancer risk in BRCA1 carriers to a similar relative extent as in the general population. (Cancer Epidemiol Biomarkers Prev 2009;18(2):601-10)
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4.
  • Arver, Brita, et al. (författare)
  • Bilateral Prophylactic Mastectomy in Swedish Women at High Risk of Breast Cancer: A National Survey.
  • 2011
  • Ingår i: Annals of Surgery. - Lippincott Williams & Wilkins. - 1528-1140. ; 253:6, s. 1147-1154
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND/OBJECTIVE:: This study attempted a national inventory of all bilateral prophylactic mastectomies performed in Sweden between 1995 and 2005 in high-risk women without a previous breast malignancy. The primary aim was to investigate the breast cancer incidence after surgery. Secondary aims were to describe the preoperative risk assessment, operation techniques, complications, histopathological findings, and regional differences. METHODS:: Geneticists, oncologists and surgeons performing prophylactic breast surgery were asked to identify all women eligible for inclusion in their region. The medical records were reviewed in each region and the data were analyzed centrally. The BOADICEA risk assessment model was used to calculate the number of expected/prevented breast cancers during the follow-up period. RESULTS:: A total of 223 women operated on in 8 hospitals were identified. During a mean follow-up of 6.6 years, no primary breast cancer was observed compared with 12 expected cases. However, 1 woman succumbed 9 years post mastectomy to widespread adenocarcinoma of uncertain origin. Median age at operation was 40 years. A total of 58% were BRCA1/2 mutation carriers. All but 3 women underwent breast reconstruction, 208 with implants and 12 with autologous tissue. Four small, unifocal, invasive cancers and 4 ductal carcinoma in situ were found in the mastectomy specimens. The incidence of nonbreast related complications was low (3%). Implant loss due to infection/necrosis occurred in 21 women (10%) but a majority received a new implant later. In total, 64% of the women underwent at least 1unanticipated secondary operation. CONCLUSIONS:: Bilateral prophylactic mastectomy is safe and efficacious in reducing future breast cancer in asymptomatic women at high risk. Unanticipated reoperations are common. Given the small number of patients centralization seems justified.
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5.
  • Arver, Brita, et al. (författare)
  • First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm
  • 2001
  • Ingår i: Genetic Testing. - Mary Ann Liebert, Inc.. - 1557-7473. ; 5:1, s. 41282-41282
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of the study was to optimize the criteria for the BRCA1 and BRCA2 gene testing and to improve oncogenetic counseling in the Stockholm region. Screening for inherited breast cancer genes is laborious and a majority of tested samples turn out to be negative. The frequencies of mutations in the BRCA1 and BRCA2 genes differ across populations. Between 1997 and 2000, 160 families with breast and/or ovarian cancer were counseled and screened for mutations in the two genes. Twenty-five BRCA1 and two BRCA2 disease-causing mutations were found. Various factors associated with the probability of finding a BRCA1 mutation in the families were estimated. Age of onset in different generations and other malignancies were also studied. Families from our region in which both breast and ovarian cancer occur were likely to carry a BRCA1 mutation (34%). In breast-only cancer families, mutations were found only in those with very early onset. All breast-only cancer families with a mutation had at least one case of onset before 36 years of age and a young median age of onset (< 43 years). Other malignancies than breast and ovarian cancers did not segregate in the BRCA1 families and surveillance for other malignancies is not needed, in general. Decreasing age of onset with successive generations was common and must be taken into account when surveillance options are considered.
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6.
  • Arver, Brita (författare)
  • Hereditary breast/ovarian cancer : Implementation of BRCA1 & BRCA2 testing
  • 2001
  • Doktorsavhandling (övrigt vetenskapligt)abstract
    • Breast cancer is the most common malignancy among women in the western world. Most cases are sporadic but in 5 to 10 % an inherited genetic mutation is the main cause of the disease. Families with inherited breast cancer are characterized by multiple breast cancer cases, early age of onset, frequently occurring bilaterality and in many families women affected by ovarian cancer are found. Two important genes involved in hereditary breast or breast/ovarian cancer have been identified, BRCA1 on chromosome 17q and BRCA2 on chromosome 13q The genes are suppose to be tumor suppressor genes and both are suggested to participate in DNA repair. The entire function of the two genes is not yet fully known. Families in which a mutated BRCA 1 or BRCA2 gene can be suspected are offered genetic screening. If a mutation is revealed, predictive testing in healthy family members is a possibility. Identified mutation carriers have a greatly increased risk of breast and ovarian cancer and are offered regular surveillance and preventive measures. Family members without the mutation can be relieved from substantial cancer worries for themselves and for their offspring. In order to estimate the contribution of BRCA1 and BRCA2 germ line mutations in different breast or breast/ovarian cancer families from the Stockholm region, three screening studies were performed. Initially no restriction with respect to age at onset was made, but when in 1997 the procedure was implemented into clinical practice age-related screening criteria were employed in families with breast cancer only in order to optimize the outcome. Different mutation screening methods were used and successively evaluated. Healthy members of families with a revealed mutation in a breast/ovarian or a hereditary colon cancer gene were offered genetic predictive testing. The Psycho-social consequences of pre-symptomatic testing were evaluated in a 15 month follow-up study. BRCA1 mutations were consistently found in one third of the breast/ovarian cancer families (Paper 1, 11 IV). In breast cancer-only families BRCA1 mutations were found 1-2 % (Paper I and II). When age- related screening criteria were introduced this figure increased to 7% and the criteria could be further limited in the breast cancer-only families without loss of sensitivity (Paper IV). More than 50% of the BRCA1 aberrations detected were one of three founder mutations, 2594deIC, 3166insTGAGA or 3745delT (Paper 1, 11 and IV). Tumors other than breast and ovarian cancers were not overrepresented in the BRCA1 families (Paper IV). BRCA2 mutations were found to be rare in the Stockholm region and consistently found in 1-2 % of the families despite limited screening criteria (Paper III and IV). No family with the common Icelandic BRCA2 founder mutation was found (Paper 111). In many breast-cancer-only families no mutations were found, and other genes than BRCA1 and BRCA2 are likely to segregate in the breast cancer families in the Stockholm region (Paper 1, 11, 11, and IV). Independent of the screening methods used in paper 1, 11, 111 and IV, the frequency of disease causing mutations were approximately identical. Toward the end of the project when the entire genes were sequenced automatically, only an expected moderately increased number of BRCA2 missense mutations were found (Paper IV). Predictive genetic testing for germ I ine mutations in the BRCA1, BRCA2 hMLH1 or hMSH2 genes, preceded by extensive information and surveillance did not impair mental health of the people at risk. The individual's response to the test result was not predicted by the presence or absence of a mutation. Non carriers may also benefit from follow-ups (Paper V).
7.
  • Bai, Lucy, et al. (författare)
  • Body image problems in women with and without breast cancer 6-20 years after bilateral risk-reducing surgery : A prospective follow-up study
  • 2019
  • Ingår i: Breast. - 0960-9776. ; 44, s. 120-127
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: To prospectively follow-up and investigate women's perceptions of the cosmetic outcome of their implant-based breast reconstruction, body image, sexuality, anxiety/depressive symptoms, and health-related quality of life (HRQoL) 6-20 years after bilateral risk-reducing mastectomy (RRM), or complementary RRM after breast cancer diagnosis, due to increased risk of hereditary breast cancer.PATIENTS AND METHODS: Women with and without previous breast cancer diagnosis that underwent RRM between March 1997 and September 2010 were invited (n = 200). We compared 146 (73%) sets of long-term questionnaire responses (e.g., EORTC QLQ-BRR26, Body Image Scale, Sexuality Activity Questionnaire, Hospital Anxiety and Depression Scale, and SF-36) with responses one year after surgery. Women with and without previous breast cancer were compared at the long-term assessment point.RESULTS: The HRQoL and anxiety/depressive symptoms remained unchanged compared with one year after surgery, and there were no between-group differences. The negative impact on body image persisted in both groups for most of the items. 'Sexual discomfort' increased significantly for women with previous breast cancer (p = 0.016). Women with previous breast cancer also reported more problems with 'Disease treatment/surgery related symptoms' (p = 0.006) and 'Sexuality' (p = 0.031) in the EORTC QLQ-BRR26 questionnaire.CONCLUSION: Problems with body image appeared to persist long time post-RRM. No differences in HRQoL were found at the long-term follow-up between women with and without previous breast cancer. The results of this investigation might be of use in improving future counselling before risk-reducing surgery for women in the decision-making process.
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8.
  • Blein, Sophie, et al. (författare)
  • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
  • 2015
  • Ingår i: Breast Cancer Research. - BioMed Central. - 1465-5411. ; 17:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Individuals carrying pathogenic mutations in BRCA1/2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals from different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. Here we test the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers.
9.
  • Catucci, Irene, et al. (författare)
  • Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
  • 2018
  • Ingår i: Genetics in Medicine. - Lippincott Williams & Wilkins. - 1098-3600. ; 20, s. 452-457
  • Tidskriftsartikel (refereegranskat)abstract
    • PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). FANCM monoallelic mutations have been reported as moderate risk factors for breast cancer, but there are no reports of any clinical phenotype observed in carriers of biallelic mutations.MethodsBreast cancer probands were subjected to mutation analysis by sequencing gene panels or testing DNA damage response genes.ResultsFive cases homozygous for FANCM loss-of-function mutations were identified. They show a heterogeneous phenotype including cancer predisposition, toxicity to chemotherapy, early menopause, and possibly chromosome fragility. Phenotype severity might correlate with mutation position in the gene.ConclusionOur data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. Moreover, our observations support previous findings suggesting that FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features.Genetics in Medicine advance online publication, 24 August 2017; doi:10.1038/gim.2017.123.
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10.
  • Chang-Claude, Jenny, et al. (författare)
  • Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study
  • 2007
  • Ingår i: Cancer Epidemiology Biomarkers and Prevention. - American Association for Cancer Research. - 1055-9965. ; 16:4, s. 740-746
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Early menarche and late menopause are important risk factors for breast cancer, but their effects on breast cancer risk in BRCA1 and BRCA2 carriers are unknown. Methods: We assessed breast cancer risk in a large series of 1,187 BRCA1 and 414 BRCA2 carriers from the International BRCA1/2 Carrier Cohort Study. Rate ratios were estimated using a weighted Cox-regression approach. Results: Breast cancer risk was not significantly related to age at menopause {hazard ratio [HR] for menopause below age 35 years, 0.60 [95% confidence interval (95% CI), 0.25-1.44]; 35 to 40 years, 1.15 [0.65-2.04]; 45 to 54 years, 1.02 [0.65-1.60]; ≥55 years, 1.12 [0.12-5.02], as compared with premenopausal women}. However, there was some suggestion of a reduction in risk after menopause in BRCA2 carriers. There was some evidence of a protective effect of oophorectomy (HR, 0.56; 95% CI, 0.29-1.09) and a significant trend of decreasing risk with increasing time since oophorectomy, but no apparent effect of natural menopause. There was no association between age at menarche and breast cancer risk, nor any apparent association with the estimated total duration of breast mitotic activity. Conclusions: These results are consistent with other observations suggesting a protective effect of oophorectomy, similar in relative effect to that in the general population. The absence of an effect of age at natural menopause is, however, not consistent with findings in the general population and may reflect the different natural history of the disease in carriers.
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