FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000236153> ?p ?o ?g. }

• W2000236153 endingPage "274" @default.
• W2000236153 startingPage "272" @default.
• W2000236153 abstract "To the Editor: The proportion of high-risk families with BRCA2 mutations varies widely among populations. In Iceland, 8% of unselected breast cancer (BC) patients and 64% of patients with a definite family history of BC carry a founder mutation in BRCA2—995del5 (Thorlacius et al., 1997Thorlacius S Sigurdsson S Bjarnadottir H Olafsdottir G Jonasson JG Tryggvadottir L Tulinius H et al.Study of a single BRCA2 mutation with high carrier frequency in a small population.Am J Hum Genet. 1997; 60: 1079-1084PubMed Google Scholar). In the Ashkenazi Jews, the 6174delT mutation is found in 24% of high-risk families and in 6% of unselected BC patients (Abeliovich et al., 1997Abeliovich D Kaduri L Lerer I Weinberg N Amir G Sagi M Zlotogora J et al.The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.Am J Hum Genet. 1997; 60: 505-514PubMed Google Scholar; Levy-Lahad et al., 1997Levy-Lahad E Catane R Eisenberg S Kauffman B Hornreich G Lishinsky E Shohat M et al.Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.Am J Hum Genet. 1997; 60: 1059-1067PubMed Google Scholar). Other ancient BRCA2 mutations have been summarized by Szabo and King, 1997Szabo CI King M-C Population genetics of BRCA1 and BRCA2.Am J Hum Genet. 1997; 60: 1013-1020PubMed Google Scholar. Whereas some of the BRCA2 mutations were found in BC-only families, including the majority of families with male and female BC (Ford et al., 1998Ford D Easton DF Stratton M Narod S Goldgar D Devilee P Bishop DT et al.Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families.Am J Hum Genet. 1998; 62: 676-689Abstract Full Text Full Text PDF PubMed Scopus (2375) Google Scholar), other BRCA2 mutations, such as 6174delT, were found in BC/OC patients (i.e., those with BC and/or ovarian cancer [OC]). In this letter, we describe the 8765delAG mutation in BRCA2, a founder mutation in Jews of Yemenite origin. During the screening of BC/OC patients for mutations in the BRCA2 gene, PCR products of two patients (III-9 in family BC10 and III-6 in family BC149) of Yemenite extraction had mobility shifts, as determined by single-strand conformation polymorphism (SSCA) (fig. 1a). Sequencing of these fragments revealed a deletion of 2 bp (AG), one of three AGs starting at position 8761 (fig. 1b). The mutation was analyzed in genomic DNA of the patients and of their family members, by a BsmAI restriction assay using a primer into which a mismatch was introduced (fig. 1c). Patient II-4 in family BC703 and patient III-2 in family BC703, who were referred to us because of their ethnic affiliation and positive family history, were analyzed directly for the mutation. The pedigrees of the three families are presented in figure 2. We could not find any relationship among the three families. In families BC10 and BC149, only BC was reported. In family BC703, one of the sisters had BC and OC. In the three sibships there were 27 sisters (including the index cases); 13 of them had BC, 2 had bilateral BC, and 1 had BC and OC. The ages at diagnosis were 27–52 years, with a mean of 38.4 years. In all three families, the fathers were apparent carriers. In family BC10, the father had prostate cancer at the age of 60 years; in family BC149, the father had BC at the age of 75 years. The father (I-2) in family BC703 died at the age of 80 years of a cerebrovascular accident (stroke). Other cancers in the families were colon, neck, and laryngeal cancer.Figure 2Pedigrees of three families with the 8765delAG mutation. Numbers in parentheses are the ages (in years) at diagnosis.View Large Image Figure ViewerDownload Hi-res image Download (PPT) Nine BC patients of Yemenite origin (two of whom were of mixed origin) and without family history of BC/OC were analyzed for the 8765delAG mutation, and none was found to be a carrier (table 1). In a sample of 140 healthy individuals of Yemenite origin, 1 carrier was identified. The control DNA samples were collected from unrelated and unselected individuals and were identified interms of a code number. The frequency (0.7%) of the 8675delAG mutation that was observed in this sample should be validated in a larger sample.Table 1Jewish BC Patients Who Were Analyzed for the 8765delAG Mutation, According to Clinical Diagnosis and Ethnic AffiliationNo. (Age [Years] at Diagnosis)AshkenazimSephardimOrientalsYemenitesTotalPositive family history16 (40–64)4 (40–64)2 (40–64)22BC: Unilateral2 (25–29)2aOne patient had a positive family history (i.e., at least three first-degree relatives with BC and/or OC). (25–29)3 (25–29)7 (20, 32, 35, 44, 46, 49, 55)bTwo patients were of mixed origin (i.e., Yemenite/Ashkenazi and Yemenite/non-Ashkenazi).14 Bilateral9cFour patients had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).11 (29–65 [BC 40–43, OC 50–58])dOne patient had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).1 (BC 34, 38; OC 38)11BC and OC1eOne patient had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).2BC and other primary tumors___1fThe other primary tumors were colon cancer and leukemia.1 Total2876950a One patient had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).b Two patients were of mixed origin (i.e., Yemenite/Ashkenazi and Yemenite/non-Ashkenazi).c Four patients had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).d One patient had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).e One patient had a positive family history (i.e., at least three first-degree relatives with BC and/or OC).f The other primary tumors were colon cancer and leukemia. Open table in a new tab In addition, we tested the 8765delAG mutation in 41 Jewish BC patients—28 Ashkenazi Jews and 13 Sephardic and Oriental Jews (table 1)—who did not carry any of the Ashkenazi founder mutations (185delAG and 5382insC, in BRCA1; and 6174delT, in BRCA2). This group of patients met some of the criteria of hereditary BC, such as positive family history of BC and/or OC in three first-degree relatives, bilateral BC, both BC and OC, BC and other primary cancer, or early age at diagnosis (<30 years); some of these patients have been described elsewhere (Abeliovich et al., 1997Abeliovich D Kaduri L Lerer I Weinberg N Amir G Sagi M Zlotogora J et al.The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.Am J Hum Genet. 1997; 60: 505-514PubMed Google Scholar). None of these patients was a carrier of the 8765delAG mutation, in support of the conclusion that the 8765delAG mutation is confined to the Yemenite Jews. The haplotypes (D13S171 and D13S260) of the chromosomes bearing the 8765delAG mutation were analyzed in the three families (Lerer et al., 1994Lerer I Meiner V Pashut-Lavon I Abeliovich D Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation site and non-isotopic detection of (CA)n dinucleotide repeat polymorphism.Am J Med Genet. 1994; 52: 79-84Crossref PubMed Scopus (41) Google Scholar). The families all share the same haplotype: allele 7 with (CA)n=5, of D13S171, and allele 7, with (CA)n=21, of D13S260. In the anonymous carrier in the control group, we could not determine the haplotype, but, in both loci, one of the alleles was the same as that of the mutation's haplotype in the carrier patients. It thus has been concluded that this is a founder mutation in the Yemenite Jews. Among the Jewish people, the Yemenite Jews are a relatively small group that, until their immigration to Israel (during the last century), lived for many years in isolation. The same mutation previously has been described in two French Canadian patients (Phelan et al., 1996Phelan CM Lancaster JM Tonin P Gumbs C Cochran C Carter R Ghadirian P et al.mutation analysis of the BRCA2 gene in 49 site specific breast cancer families.Nat Genet. 1996; 13: 120-122Crossref PubMed Scopus (219) Google Scholar). Family members of the two French Canadian patients included 22 females with BC only, with mean age at diagnosis 49.2 years. It thus seems that the risk that the 8765delAG mutation confers on carriers is mainly (but not exclusively) with regard to BC. On the basis of the limited number of patients studied, it seems that the penetrance of the 8765delAG mutation is relatively high, since the carriers had a strong family history of BC; 13 of 27 first-degree relatives had BC, and the age at diagnosis was very early. It would be of interest to compare the haplotype of the 8765delAG mutation in the Yemenite Jews with that in the French Canadians, although it is highly unlikely that the two groups share a mutation of common ancestral origin. Since the mutation is a deletion of AG in a stretch of AGAGAG, the chance of recurrent mutation resulting in AG deletion in this site might be higher than that in a site having a single AG. Nine BC patients of Yemenite origin—eight of whom were diagnosed at age <50 years, including one patient with bilateral BC and one patient with two other primary tumors—were not carriers of this mutation, which might indicate that the 8675delAG mutation is not the only BRCA mutation in the Yemenite Jews. Indeed, one BC patient of Yemenite origin (who was not included in this study) was identified as a carrier of the 5382insC mutation in BRCA1." @default.
• W2000236153 created "2016-06-24" @default.
• W2000236153 creator A5013223284 @default.
• W2000236153 creator A5033044863 @default.
• W2000236153 creator A5053381108 @default.
• W2000236153 creator A5055304426 @default.
• W2000236153 creator A5056827554 @default.
• W2000236153 creator A5075618091 @default.
• W2000236153 creator A5076125447 @default.
• W2000236153 creator A5078547183 @default.
• W2000236153 creator A5091818836 @default.
• W2000236153 date "1998-07-01" @default.
• W2000236153 modified "2023-10-16" @default.
• W2000236153 title "The 8765delAG Mutation in BRCA2 Is Common among Jews of Yemenite Extraction" @default.
• W2000236153 cites W2007085852 @default.
• W2000236153 cites W2055294712 @default.
• W2000236153 cites W2103970959 @default.
• W2000236153 doi "https://doi.org/10.1086/301924" @default.
• W2000236153 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1377245" @default.
• W2000236153 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9634522" @default.
• W2000236153 hasPublicationYear "1998" @default.
• W2000236153 type Work @default.
• W2000236153 sameAs 2000236153 @default.
• W2000236153 citedByCount "34" @default.
• W2000236153 countsByYear W20002361532012 @default.
• W2000236153 countsByYear W20002361532013 @default.
• W2000236153 countsByYear W20002361532014 @default.
• W2000236153 countsByYear W20002361532015 @default.
• W2000236153 countsByYear W20002361532016 @default.
• W2000236153 countsByYear W20002361532017 @default.
• W2000236153 countsByYear W20002361532019 @default.
• W2000236153 countsByYear W20002361532020 @default.
• W2000236153 crossrefType "journal-article" @default.
• W2000236153 hasAuthorship W2000236153A5013223284 @default.
• W2000236153 hasAuthorship W2000236153A5033044863 @default.
• W2000236153 hasAuthorship W2000236153A5053381108 @default.
• W2000236153 hasAuthorship W2000236153A5055304426 @default.
• W2000236153 hasAuthorship W2000236153A5056827554 @default.
• W2000236153 hasAuthorship W2000236153A5075618091 @default.
• W2000236153 hasAuthorship W2000236153A5076125447 @default.
• W2000236153 hasAuthorship W2000236153A5078547183 @default.
• W2000236153 hasAuthorship W2000236153A5091818836 @default.
• W2000236153 hasBestOaLocation W20002361531 @default.
• W2000236153 hasConcept C104317684 @default.
• W2000236153 hasConcept C501734568 @default.
• W2000236153 hasConcept C54355233 @default.
• W2000236153 hasConcept C86803240 @default.
• W2000236153 hasConceptScore W2000236153C104317684 @default.
• W2000236153 hasConceptScore W2000236153C501734568 @default.
• W2000236153 hasConceptScore W2000236153C54355233 @default.
• W2000236153 hasConceptScore W2000236153C86803240 @default.
• W2000236153 hasIssue "1" @default.
• W2000236153 hasLocation W20002361531 @default.
• W2000236153 hasLocation W20002361532 @default.
• W2000236153 hasLocation W20002361533 @default.
• W2000236153 hasLocation W20002361534 @default.
• W2000236153 hasOpenAccess W2000236153 @default.
• W2000236153 hasPrimaryLocation W20002361531 @default.
• W2000236153 hasRelatedWork W1828691184 @default.
• W2000236153 hasRelatedWork W1903732681 @default.
• W2000236153 hasRelatedWork W1991523530 @default.
• W2000236153 hasRelatedWork W2002128513 @default.
• W2000236153 hasRelatedWork W2020824267 @default.
• W2000236153 hasRelatedWork W2031436818 @default.
• W2000236153 hasRelatedWork W2057739827 @default.
• W2000236153 hasRelatedWork W2075354549 @default.
• W2000236153 hasRelatedWork W2119103177 @default.
• W2000236153 hasRelatedWork W2092874662 @default.
• W2000236153 hasVolume "63" @default.
• W2000236153 isParatext "false" @default.
• W2000236153 isRetracted "false" @default.
• W2000236153 magId "2000236153" @default.
• W2000236153 workType "article" @default.