Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-10-21

AUTHORS

Aaron G Lewis, James Flanagan, Anna Marsh, Gulietta M Pupo, Graham Mann, Amanda B Spurdle, Geoffrey J Lindeman, Jane E Visvader, Melissa A Brown, Georgia Chenevix-Trench, the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer

ABSTRACT

IntroductionMutations in known predisposition genes account for only about a third of all multiple-case breast cancer families. We hypothesized that germline mutations in FANCD2, BRIP1/BACH1, LMO4 and SFN may account for some of the unexplained multiple-case breast cancer families.MethodsThe families used in this study were ascertained through the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab). Denaturing high performance liquid chromatography (DHPLC) analysis of the coding regions of these four genes was conducted in the youngest affected cases of 30 to 267 non-BRCA1/2 breast cancer families. In addition, a further 399 index cases were also screened for mutations in two functionally significant regions of the FANCD2 gene and 253 index cases were screened for two previously reported mutations in BACH1 (p. P47A and p. M299I).ResultsDHPLC analysis of FANCD2 identified six silent exonic variants, and a large number of intronic variants, which tagged two common haplotypes. One protein truncating variant was found in BRIP1/BACH1, as well as four missense variants, a silent change and a variant in the 3' untranslated region. No missense or splice site mutations were found in LMO4 or SFN. Analysis of the missense, silent and frameshift variants of FANCD2 and BACH1 in relatives of the index cases, and in a panel of controls, found no evidence suggestive of pathogenicity.ConclusionThere is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer. Large scale association studies will be necessary to determine whether any of the polymorphisms or haplotypes identified in these genes contributes to breast cancer risk. More... »

PAGES

r1005

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/bcr1336

DOI

http://dx.doi.org/10.1186/bcr1336

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026862561

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16280053


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40 schema:description IntroductionMutations in known predisposition genes account for only about a third of all multiple-case breast cancer families. We hypothesized that germline mutations in FANCD2, BRIP1/BACH1, LMO4 and SFN may account for some of the unexplained multiple-case breast cancer families.MethodsThe families used in this study were ascertained through the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab). Denaturing high performance liquid chromatography (DHPLC) analysis of the coding regions of these four genes was conducted in the youngest affected cases of 30 to 267 non-BRCA1/2 breast cancer families. In addition, a further 399 index cases were also screened for mutations in two functionally significant regions of the FANCD2 gene and 253 index cases were screened for two previously reported mutations in BACH1 (p. P47A and p. M299I).ResultsDHPLC analysis of FANCD2 identified six silent exonic variants, and a large number of intronic variants, which tagged two common haplotypes. One protein truncating variant was found in BRIP1/BACH1, as well as four missense variants, a silent change and a variant in the 3' untranslated region. No missense or splice site mutations were found in LMO4 or SFN. Analysis of the missense, silent and frameshift variants of FANCD2 and BACH1 in relatives of the index cases, and in a panel of controls, found no evidence suggestive of pathogenicity.ConclusionThere is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer. Large scale association studies will be necessary to determine whether any of the polymorphisms or haplotypes identified in these genes contributes to breast cancer risk.
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46 schema:keywords Bach1
47 ConclusionThere
48 FANCD2
49 FANCD2 gene
50 IntroductionMutations
51 Kathleen Cuningham Foundation Consortium
52 LMO4
53 SFN
54 addition
55 analysis
56 association studies
57 breast cancer
58 breast cancer families
59 breast cancer risk
60 cancer
61 cancer families
62 cancer risk
63 cases
64 changes
65 chromatography analysis
66 common haplotype
67 consortium
68 contributes
69 control
70 evidence
71 exonic
72 exonic variants
73 familial breast cancer
74 family
75 frameshift variant
76 genes
77 genes contributes
78 germline mutations
79 haplotypes
80 high-performance liquid chromatography analysis
81 index case
82 intronic variants
83 large number
84 large-scale association studies
85 liquid chromatography analysis
86 missense
87 missense variants
88 multiple-case breast cancer families
89 mutation analysis
90 mutations
91 non-BRCA1/2 breast cancer families
92 number
93 panel
94 panel of controls
95 pathogenicity
96 performance liquid chromatography analysis
97 polymorphism
98 predisposition genes
99 protein truncating variants
100 region
101 relatives
102 research
103 risk
104 scale association studies
105 significant regions
106 silent changes
107 site mutation
108 splice site mutation
109 study
110 third
111 truncating variants
112 untranslated region
113 variants
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