The ATM gene and breast cancer: is it really a risk factor?

Angèle, Sandra; Hall, Janet

doi:10.1016/s1383-5742(00)00034-x

Cited by 68 publications

(45 citation statements)

References 86 publications

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“…The frequency of the 2572C allele was also similar to the population estimate of 2% in published reports. The recent proposal 40 that 2572C only confers an elevated cancer risk in the presence of 5557A is not supported by our study as this combination was not observed to segregate with CLL. Asp126Glu (378TϾA) was also not observed to segregate with CLL, being detected in 2 unrelated individuals.…”

Section: Discussioncontrasting

confidence: 99%

ATM mutations are rare in familial chronic lymphocytic leukemia

Yuille

Condie²,

Hudson³

et al. 2002

Blood

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Section: Discussioncontrasting

confidence: 99%

ATM mutations are rare in familial chronic lymphocytic leukemia

Yuille

Condie²,

Hudson³

et al. 2002

Blood

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“…37,46 Estimated relative risk varied from 1.3 to 12.7 in different studies. 47 Most recently, screening of 441 BRCA1/BRCA2-negative breast cancer cases from 440 families and 521 controls for ATM sequence variants identified 12 mutations in affected individuals and 2 in controls. By segregation analysis incorporating information from the controls and the full pedigrees of the cases, Renwick et al 37 estimated a relative breast cancer risk of 2.37 in heterozygous mutation carriers.…”

Section: Breast Cancer Susceptibilitymentioning

confidence: 99%

Breast cancer susceptibility: current knowledge and implications for genetic counselling

et al. 2008

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Breast cancer is the most common malignancy in women in the Western world. Except for the high breast cancer risk in BRCA1 and BRCA2 mutation carriers as well as the risk for breast cancer in certain rare syndromes caused by mutations in TP53, STK11, PTEN, CDH1, NF1 or NBN, familial clustering of breast cancer remains largely unexplained. Despite significant efforts, BRCA3 could not be identified, but several reports have recently been published on genes involved in DNA repair and single nucleotide polymorphisms (SNPs) associated with an increased breast cancer risk. Although candidate gene approaches demonstrated moderately increased breast cancer risks for rare mutations in genes involved in DNA repair (ATM, CHEK2, BRIP1, PALB2 and RAD50), genome-wide association studies identified several SNPs as low-penetrance breast cancer susceptibility polymorphisms within genes as well as in chromosomal loci with no known genes (FGFR2, TOX3, LSP1, MAP3K1, TGFB1, 2q35 and 8q). Some of these low-penetrance breast cancer susceptibility polymorphisms also act as modifier genes in BRCA1/BRCA2 mutation carriers. This review not only outlines the recent key developments and potential clinical benefit for preventive management and therapy but also discusses the current limitations of genetic testing of variants associated with intermediate and low breast cancer risk.

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“…This raises the possibility that, like mutations in BRCA1 itself, changes in Chk2, ATR, or ATM activity may promote genetic instability and increase susceptibility to the development of breast cancer and other tumors. A growing body of evidence has suggested that ATM mutations confer increased susceptibility to breast cancer (91)(92)(93)(94)(95). Epidemiologic studies have put the Chk2 and BRCA1 in the same breast cancer development pathway (96,97).…”

Section: Post-transcriptional Regulation Of Brca1 By Phosphorylationmentioning

confidence: 99%

The Role of the BRCA1 Tumor Suppressor in DNA Double-Strand Break Repair

Zhang

Powell

2005

Molecular Cancer Research

187

154

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The tumor suppressor gene BRCA1 was cloned in 1994 based on its linkage to early-onset breast and ovarian cancer. Although the BRCA1 protein has been implicated in multiple cellular functions, the precise mechanism that determines its tumor suppressor activity is not defined. Currently, the emerging picture is that BRCA1 plays an important role in maintaining genomic integrity by protecting cells from double-strand breaks (DSB) that arise during DNA replication or after DNA damage. The DSB repair pathways available in mammalian cells are homologous recombination and nonhomologous end-joining. BRCA1 function seems to be regulated by specific phosphorylations in response to DNA damage and we will focus this review on the roles played by BRCA1 in DNA repair and cell cycle checkpoints. Finally, we will explore the idea that tumor suppression by BRCA1 depends on its control of DNA DSB repair, resulting in the promotion of error-free and the inhibition of error-prone recombinational repair.

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The ATM gene and breast cancer: is it really a risk factor?

Cited by 68 publications

References 86 publications

ATM mutations are rare in familial chronic lymphocytic leukemia

ATM mutations are rare in familial chronic lymphocytic leukemia

Breast cancer susceptibility: current knowledge and implications for genetic counselling

The Role of the BRCA1 Tumor Suppressor in DNA Double-Strand Break Repair

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