F Demenais, M Martinez, C Bonaïti-Pellié, F Clerget-Darpoux, N Feingold
Analysis of familial transmission of breast cancer gives the opportunity to study the genetic component of a common disease in which various epidemiological factors have been shown to play a r81e. It also permits discussion of the problem of etiologic heterogeneity which has been suggested for breast cancer not only on clinical and/or histological grounds but also from epidemiological studies. In particular, a variation in familial risk, according to age at diagnosis of the proband (premenopausal vs post-menopausal) , laterality of the disease (unilateral vs bilateral) and type of family history, has been reported (Anderson, 1982). Carcinoma of the breast was also found in variable associations with cancers of other anatomic sites in some families (Lynch et al, 1984).
{"title":"Segregation analysis of the Jacobsen data.","authors":"F Demenais, M Martinez, C Bonaïti-Pellié, F Clerget-Darpoux, N Feingold","doi":"10.1002/gepi.1370030708","DOIUrl":"https://doi.org/10.1002/gepi.1370030708","url":null,"abstract":"Analysis of familial transmission of breast cancer gives the opportunity to study the genetic component of a common disease in which various epidemiological factors have been shown to play a r81e. It also permits discussion of the problem of etiologic heterogeneity which has been suggested for breast cancer not only on clinical and/or histological grounds but also from epidemiological studies. In particular, a variation in familial risk, according to age at diagnosis of the proband (premenopausal vs post-menopausal) , laterality of the disease (unilateral vs bilateral) and type of family history, has been reported (Anderson, 1982). Carcinoma of the breast was also found in variable associations with cancers of other anatomic sites in some families (Lynch et al, 1984).","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"49-54"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gepi.1370030708","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14691609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The clinical impression of the expression of breast cancer includes the notion of etiological heterogeneity. The incidence of breast cancer rises in postmenopausal women and is very rare among males. The roles of putative genetic susceptibility factors, changing estrogen levels, and possible environmental agents are not clearly defined as they relate to the differential incidences. Williams and Anderson (1984) proposed that a dominant major gene influences the risk for breast cancer in the set of Danish pedigrees ascertained by Jacobsen and analyzed in the present investigation. Williams and Anderson evaluated the internal consistency of their conclusions by evaluating heterogeneity within pedigrees that were partitioned into sibships based on relation to the proband; they found no evidence of heterogeneity. In contrast, Elston and Bailey-Wilson (this volume) carried out a test of consistency of a dominant major gene model with the entire Jacobsen data set and found support for the notion of heterogeneity. An alternative to the search for heterogeneity within lineages, as done by Williams and Anderson, is to seek heterogeneity between families, based on clinically relevant data.
{"title":"Examination of heterogeneity in 200 Danish breast cancer pedigrees.","authors":"S B Gilligan, I B Borecki","doi":"10.1002/gepi.1370030711","DOIUrl":"https://doi.org/10.1002/gepi.1370030711","url":null,"abstract":"The clinical impression of the expression of breast cancer includes the notion of etiological heterogeneity. The incidence of breast cancer rises in postmenopausal women and is very rare among males. The roles of putative genetic susceptibility factors, changing estrogen levels, and possible environmental agents are not clearly defined as they relate to the differential incidences. Williams and Anderson (1984) proposed that a dominant major gene influences the risk for breast cancer in the set of Danish pedigrees ascertained by Jacobsen and analyzed in the present investigation. Williams and Anderson evaluated the internal consistency of their conclusions by evaluating heterogeneity within pedigrees that were partitioned into sibships based on relation to the proband; they found no evidence of heterogeneity. In contrast, Elston and Bailey-Wilson (this volume) carried out a test of consistency of a dominant major gene model with the entire Jacobsen data set and found support for the notion of heterogeneity. An alternative to the search for heterogeneity within lineages, as done by Williams and Anderson, is to seek heterogeneity between families, based on clinically relevant data.","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"67-72"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gepi.1370030711","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14691612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The seven loci: insulin (INS), oncogene c-Ha-ras-1 (HRASl), ADJ (DllS12) , D-globin (HBBC) , parathyroid hormone (PTH) , calcitonin (CALC1) and catalase (CAT) have all been assigned to the short arm of chromosome 11 (Human Gene Mapping Workshop 8). Results from 2-point linkage analysis using DNA polymorphisms for these loci gave the linkage map: centromere: CAT CALCl PTH HBBC DllS12 (HRAS1: INS). The HBBC and DllS12 loci are relatively tightly linked to the HRASl and INS loci. Because the HRASl and INS loci are tightly linked (only a few cM apart), it had not been possible to order them definitively in previous linkage studies (Antonarakis et al., 1983; Fearon et al., 1984; Kittur et al., 1985; White et al., 1985).
{"title":"Genetic analysis workshop IV: summary of two-point and multipoint mapping of 11p.","authors":"D A Meyers, T H Beaty","doi":"10.1002/gepi.1370030716","DOIUrl":"https://doi.org/10.1002/gepi.1370030716","url":null,"abstract":"The seven loci: insulin (INS), oncogene c-Ha-ras-1 (HRASl), ADJ (DllS12) , D-globin (HBBC) , parathyroid hormone (PTH) , calcitonin (CALC1) and catalase (CAT) have all been assigned to the short arm of chromosome 11 (Human Gene Mapping Workshop 8). Results from 2-point linkage analysis using DNA polymorphisms for these loci gave the linkage map: centromere: CAT CALCl PTH HBBC DllS12 (HRAS1: INS). The HBBC and DllS12 loci are relatively tightly linked to the HRASl and INS loci. Because the HRASl and INS loci are tightly linked (only a few cM apart), it had not been possible to order them definitively in previous linkage studies (Antonarakis et al., 1983; Fearon et al., 1984; Kittur et al., 1985; White et al., 1985).","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"99-111"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gepi.1370030716","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14595660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We perfom both segregation and linkage analysis for an hypothesized breast cmxr suscqt&ility
{"title":"Segregation and linkage analysis of breast cancer in the Dutch and Utah families.","authors":"L A Cannon, D T Bishop, M H Skolnick","doi":"10.1002/gepi.1370030707","DOIUrl":"https://doi.org/10.1002/gepi.1370030707","url":null,"abstract":"We perfom both segregation and linkage analysis for an hypothesized breast cmxr suscqt&ility","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"43-8"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gepi.1370030707","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14691608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The loci for Insulin (INS), /3-Hemoglobin (HBBC) and the Harvey ras 1 oncogene (HRAS1) have all been assigned to the p15 region of chromosome 11. However, linkage analyses of different data sets have resulted in alternate estimates of the most likely order of the three loci. Parathyroid hormone (PTH), Calcitonin (CALCl) and Catalase (CAT) are also on the short arm of chromosome 11 and conflicting estimates of the recombination between CALCl and PTH have been reported. Physical evidence places CAT closest to the centromere. In this paper the phenotype data on these six loci collected at Johns Hopkins University School of Medicine (including five Utah families) are analyzed using three different methods of genetic mapping.
{"title":"Determination of the order of loci on the short arm of chromosome 11 using two and three locus linkage analyses of pedigree and sib pair data.","authors":"B J Keats, R C Elston","doi":"10.1002/gepi.1370030723","DOIUrl":"https://doi.org/10.1002/gepi.1370030723","url":null,"abstract":"The loci for Insulin (INS), /3-Hemoglobin (HBBC) and the Harvey ras 1 oncogene (HRAS1) have all been assigned to the p15 region of chromosome 11. However, linkage analyses of different data sets have resulted in alternate estimates of the most likely order of the three loci. Parathyroid hormone (PTH), Calcitonin (CALCl) and Catalase (CAT) are also on the short arm of chromosome 11 and conflicting estimates of the recombination between CALCl and PTH have been reported. Physical evidence places CAT closest to the centromere. In this paper the phenotype data on these six loci collected at Johns Hopkins University School of Medicine (including five Utah families) are analyzed using three different methods of genetic mapping.","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"147-52"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gepi.1370030723","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14595777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We p a r t i c i p a t e d i n GAW I V m a i n l y because we were i n t e r e s t e d i n examin ing t h e da tase ts which gave r i s e t o c o n f l i c t i n g r e p o r t s o f t h e o r d e r o f l o c i on l l p (Whi te e t a l . , 1985; Fearon e t a l . , 1984; Gerhard e t a l . , 1985). We have been i n v o l v e d i n deve lop ing a l i n k a g e map f o r l l p u s i n g da ta f rom two r e f e r e n c e pedigrees n o t i n c l u d e d i n t h e GAW I V da ta (Gerhard e t a l . , 1985). Two-point analyses t o da te suggest t h e o rde r :
{"title":"Development of a map of chromosome 11p.","authors":"P L Kramer, L A Farrer, A J Pakstis, K K Kidd","doi":"10.1002/gepi.1370030724","DOIUrl":"https://doi.org/10.1002/gepi.1370030724","url":null,"abstract":"We p a r t i c i p a t e d i n GAW I V m a i n l y because we were i n t e r e s t e d i n examin ing t h e da tase ts which gave r i s e t o c o n f l i c t i n g r e p o r t s o f t h e o r d e r o f l o c i on l l p (Whi te e t a l . , 1985; Fearon e t a l . , 1984; Gerhard e t a l . , 1985). We have been i n v o l v e d i n deve lop ing a l i n k a g e map f o r l l p u s i n g da ta f rom two r e f e r e n c e pedigrees n o t i n c l u d e d i n t h e GAW I V da ta (Gerhard e t a l . , 1985). Two-point analyses t o da te suggest t h e o rde r :","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"153-8"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/gepi.1370030724","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14595778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic epidemiology: applications and comparisons of methods. Proceedings of Genetic Analysis Workshop IV. Snowbird, Utah, October 5-7, 1985.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77852,"journal":{"name":"Genetic epidemiology. Supplement","volume":"1 ","pages":"1-406"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14087836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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