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

Lewis, Aaron; Flanagan, James M.; Marsh, Anna; Pupo, Gulietta M.; Mann, Graham J.; Spurdle, Amanda B.; Lindeman, Geoffrey J.; Visvader, Jane E.; Brown, Melissa A.; Chenevix-Trench, Georgia

doi:10.1186/bcr1336

Cited by 49 publications

(40 citation statements)

References 40 publications

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“…A nonsense mutation 2392C>T (R798X) accounted for the majority of mutations in this gene. These findings have not, however, been replicated in more recent studies [11][12][13][14][15][16][17][18][19].…”

Section: Pharoah Et Al Estimated the Absolute Risk Of Breast Cancer Bcontrasting

confidence: 43%

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort

McInerney

Miller

Rowan

et al. 2009

Breast Cancer Res Treat

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Section: Pharoah Et Al Estimated the Absolute Risk Of Breast Cancer Bcontrasting

confidence: 43%

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort

McInerney

Miller

Rowan

et al. 2009

Breast Cancer Res Treat

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“…SFn can be combined with a variety of proteins, including signal protein kinase, phosphorylase and transmembrane receptors, and plays an important role in the regulation of the cell cycle and cell apoptosis (14). in recent years, the function of SFN (14-3-3σ) in tumors has been reported, but with varying results in different epithelial tumors.…”

Section: Discussionmentioning

confidence: 99%

Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS

Xiao-li

Zhou²,

Yang³

et al. 2010

Mol Med Rep

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Abstract. Hepatocellular carcinoma (Hcc) is one of the most common types of cancer worldwide. The initial hepatocellular alterations that precede the appearence of Hcc include chronic viral hepatitis/cirrhosis, foci of phenotypically altered hepatocytes and, subsequently, dysplastic hepatocytes that form foci and nodules. These changes cause a discrepancy in the microenvironment of liver cells, which may result in changes in the protein expression profile of the cells. The aim of the present study was to investigate differences between the protein expression profiles at various stages of liver disease in order to better understand the mechanisms of Hcc and to identify potential biomarkers for its early diagnosis. The proteins of specific cells were obtained from Hcc tissue sections and pre-cancerous lesions using a manual microdissection technique, and were investigated by a two dimensional gel electrophoresis (2-de) Maldi-ToF MS proteomics approach. Select identified proteins were reconfirmed by immunohistochemistry. A total of 95 differentially expressed proteins, with an over 2-fold disparity in expression levels between cells of varying morphology during the stages of hepatocarcinogenesis, were detected by 2-de. among these 95 proteins, 80 were determined to be involved in numerous cell functions, including cell growth and proliferation, protein synthesis and metabolism, apoptosis and signal transduction. These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP)70, HSP27, manganese superoxide dismutase, prohibitin, dJ1, α-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, α-1-antitrypsin and nm23-H1, may play a role in the development of Hcc. Protein expression profiles differed markedly between the HCC tissue samples and pre-cancerous lesions, suggesting that alterations in protein expression occurred frequently during the process of hepatocarcinogenesis. analysis of the differential expression of proteins related to the development of Hcc may help elucidate the molecular mechanisms of the disease. These proteins may also serve as candidate biomarkers for early Hcc diagnosis. IntroductionHepatocellular carcinoma (Hcc) is one of the world's most common malignancies. The majority of Hcc cases are associated with chronic hepatitis or cirrhosis. Pathological changes in Hcc are involved in liver cell degeneration and necrosis, inflammatory cell infiltration, hepatocyte regeneration and fibrous tissue proliferation. During the development of Hcc, the liver undergoes a series of morphological changes, including chronic viral hepatitis/cirrhosis, foci of phenotypically altered hepatocytes and atypical hyperplasia (1-4). These changes result in an altered microenvironment, in which the intracellular protein expression pattern is changed as well.The proteomics approach allows for the analysis of changes in the protein expression profile of cells during disease progression. By comprehensively analyzing changes in protein expression patt...

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“…Several subsequent studies screened the BRIP1 coding sequence in large numbers of BRCA1/2 negative familial breast cancer families from populations in Northern Europe (Luo et al, 2002;Karppinen et al, 2003;Vahteristo et al, 2006), North America (Rutter et al, 2003) and Australia (Lewis et al, 2005). This resulted in the detection of one frameshift mutation and several missense mutations, none of which segregated with breast cancer in the families.…”

Section: Breast Cancermentioning

confidence: 99%

“…The authors concluded that FA gene mutations, other than in BRCA2, are unlikely to make a significant contribution to the risk of familial breast cancer. The FANCD2 gene was screened for mutations in an Australian cohort of 30 non-BRCA1/2 familial breast cancer families, but no pathogenic mutations were detected (Lewis et al, 2005). An association study of seven SNPs in the FANCA, FANCL and FANCD2 genes was carried out to determine whether any of these SNPs conferred susceptibility to breast cancer in the Spanish population (Barroso et al, 2006).…”

Section: Breast Cancermentioning

confidence: 99%

Fanconi anaemia genes and susceptibility to cancer

2006

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Fanconi anaemia (FA) is a rare recessive disorder associated with chromosomal fragility, aplastic anaemia, congenital abnormalities and a high risk of cancer, including acute myeloid leukaemia and squamous cell carcinomas. The identification of 11 different FA genes has revealed a complex web of interacting proteins that are involved in the recognition or repair of DNA interstrand crosslinks and perhaps other forms of DNA damage. Bi-allelic mutations in BRCA2 are associated with a rare and highly cancer-prone form of FA, and the DNA helicase BRIP1 (formerly BACH1) is mutated in FA group J. There is little convincing evidence that FA heterozygotes are at increased risk of cancer, but larger studies are needed to address the possibility of modest risk effects. Somatic inactivation of the FA pathway by mutation or epigenetic silencing has been observed in several different types of sporadic cancer, and this may have important implications for targeted chemotherapy. Inhibition of this pathway represents a possible route to sensitization of tumours to DNA crosslinking drugs such as cisplatin.

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

Abstract: Introduction Mutations 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.

Cited by 49 publications

References 40 publications

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort

Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS

Fanconi anaemia genes and susceptibility to cancer

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