Breast cancer predisposing alleles in Poland

Górski, Bohdan; Cybulski, Cezary; Huzarski, Tomasz; Byrski, Tomasz; Gronwald, Jacek; Jakubowska, Anna; Stawicka, Małgorzata; Gozdecka-Grodecka, S.; Szwiec, Marek; Urbański, Krzysztof; Mituś, Jerzy; Marczyk, Elżbieta; Dziuba, Ireneusz; Wandzel, Piotr; Surdyka, Dariusz; Haus, Olga; Janiszewska, Hanna; Dębniak, Tadeusz; Tołoczko‐Grabarek, Aleksandra; Mędrek, Krzysztof; Masojć, Bartłomiej; Mierzejewski, Marek; Kowalska, E; Narod, Steven A.; Lubiński, Jan

doi:10.1007/s10549-005-1409-1

Cited by 115 publications

(116 citation statements)

References 10 publications

(15 reference statements)

Supporting

Mentioning

104

Contrasting

Order By: Relevance

“…After screening, we excluded articles in which CHEK2 I157T was not a studied variant or in which CHEK2 I157T was studied but not in breast cancer. 21 studies (Allinen et al, 2001;Schutte et al, 2003;Cybulski et al, 2004;Dufault et al, 2004;Kilpivaara et al, 2004;Bogdanova et al, 2005;Górski et al, 2005;Cybulski et al, 2006;Nevanlinna et al, 2006;Meyer et al, 2007;Cybulski et al, 2008;Falchetti et al, 2008;Novak et al, 2008;Kaufman et al, 2008;Kleib et al, 2008;Serrano-Fernandez et al, 2009;Scharrer et al, 2010;Cybulski et al, 2011;Domagala et al, 2011) examined the association between CHEK2 variants and breast cancer susceptibility. We then excluded non-casecontrolled, data duplicating, review, new gene variant, and male breast cancer studies.…”

Section: Resultsmentioning

confidence: 99%

“…In these studies, we identified thirteen studies of unselected breast cancer (Allinen et al, 2001;Schutte et al, 2003;Cybulski et al, 2004;Kilpivaara et al, 2004;Bogdanova et al, 2005;Górski et al, 2005;Huzarski et al, 2005;Cybulski et al, 2008;Kleib et al, 2008;Serrano-Fernandez et al, 2009;Scharrer Cybulski et al, 2011;Domagala et al, 2011) and three of lobular breast cancer Cybulski et al, 2011;Domagala et al, 2011). Characteristics of included studies are summarized in Table 1.…”

Section: Resultsmentioning

confidence: 99%

“…Because 3 studies (Cybulski et al, 2004;Górski et al, 2005;Huzarski et al, 2005) used the same control cases, we merged the data from these by using the single sample estimated method with CMA software. Heterogeneity between studies was not significant (P = 0.081) by the chi-square test based Q-statistic.…”

Section: Unselected Breast Cancermentioning

confidence: 99%

See 2 more Smart Citations

The CHEK2 I157T Variant and Breast Cancer Susceptibility: A Systematic Review and Meta-analysis

Liu¹,

Wang²,

Wang³

et al. 2012

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

The CHEK2 I157T Variant and Breast Cancer Susceptibility: A Systematic Review and Meta-analysis

Liu¹,

Wang²,

Wang³

et al. 2012

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

“…Although a number of published reports have suggested that mutations in NBS1, especially 657del5, is associated with elevated risk for some cancers, including ovarian (13), breast (7,8,10), melanoma (7,9), and lymphoid malignancies (7,11,12), such findings have not been replicated in other studies (21)(22)(23)(24). For prostate cancer, Cybulski et al (5) found that the 657del5 mutation was a risk factor.…”

Section: Discussionmentioning

confidence: 99%

Role of the Nijmegen Breakage Syndrome 1 Gene in Familial and Sporadic Prostate Cancer

Hebbring¹,

Fredriksson

White³

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

View full text Add to dashboard Cite

The Nijmegen breakage syndrome 1 (NBS1) gene, which participates in DNA double strand break repair, has been postulated to be a susceptibility factor for a number of cancers, including prostate cancer. Numerous mutations have been identified in NBS1, including the founder mutation 657del5. In this study, a number of analyses were done to determine whether mutations in NBS1 are associated with an increased risk for prostate cancer. The frequency of the 657del5 mutation in both familial prostate cancer cases (1,819 affected men among 909 families) and sporadic prostate cancer cases (1,218 affected men) collected from five centers participating in the International Consortium for Prostate Cancer Genetics were compared with that found in 697 normal controls. Seven individuals were identified to carry the mutation among the 3,037 cases screened: four in the familial group (three from one family and one from another) and three in the sporadic cases. The carrier frequency was 0.22% (2 of 909) for the probands and 0.25% (3 of 1,218) for the sporadic cases of prostate cancer. The 657del5 mutation was not detected in either the 293 unaffected members of the prostate cancer families or in the 697 control samples tested. The entire NBS1 gene was also sequenced in 20 of the youngest affected individuals from the Finnish group of familial cases to identify the presence of possible mutations in this high-risk group. One rare (D95N) and one common (E185Q) missense alteration was identified. More detailed analyses of the E185Q polymorphism, along with a third rare variant (R215W), failed to show an association with prostate cancer. Because the 657del5 mutation was absent from the control population, we are unable to determine if this alteration predisposes to prostate cancer. However, our data does suggest that mutations within NBS1, and in particular, 657del5, do not significantly contribute to the overall prostate cancer burden within our patient samples. (Cancer Epidemiol Biomarkers Prev 2006;15(5):935 -8)

show abstract

“…nhgri.nih.gov/bic/). In several populations, the spectrum of mutations is rather limited, reflecting a single or a limited number of 'founder mutation(s)': the Dutch, 1 Icelandic, 2 the Polish, 3 Russian, 4 and the Norwegian 5 populations. Notably, among Ashkenazi Jews (ie, Jews of east European ancestry), three mutations in BRCA1 (185delAG, 5382InsC) and BRCA2 (6174delT) occur frequently.…”

Section: Introductionmentioning

confidence: 99%

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

et al. 2012

View full text Add to dashboard Cite

The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora B2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of B5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750-1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) B650 years ago, and into the Iraqi-Jewish community B450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews.

show abstract

Breast cancer predisposing alleles in Poland

Cited by 115 publications

References 10 publications

The CHEK2 I157T Variant and Breast Cancer Susceptibility: A Systematic Review and Meta-analysis

The CHEK2 I157T Variant and Breast Cancer Susceptibility: A Systematic Review and Meta-analysis

Role of the Nijmegen Breakage Syndrome 1 Gene in Familial and Sporadic Prostate Cancer

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

Contact Info

Product

Resources

About