MikiY., SwensenJ., Shattuck-EidensD.. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.Science.1994; 266: 66–71.
2.
TavtigianS.V., SimardJ., RommensJ.. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.Nat Genet.1996; 12: 333–337.
3.
FordD., EastonD.F., StrattonM.. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.Am J Hum Genet.1998; 62: 676–689.
4.
PetoJ., CollinsN., BarfootR.. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.J Natl Cancer Inst.1999; 91: 943–949.
5.
SerovaO.M., MazoyerS., PugetN.. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?Am J Hum Genet.1997; 60: 486–495.
6.
BalmainA., GrayJ., PonderB.. The genetics and genomics of cancer.Nat Genet.2003; 33(suppl): 238–244.
7.
KainuT., JuoS.H., DesperR.. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus.Proc Natl Acad Sci U S A.2000; 97: 9603–9608.
8.
ThompsonD., SzaboC.I., MangionJ.. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium.Proc Natl Acad Sci U S A.2002; 99: 827–831. Epub 2002.
9.
AntoniouA.C., EastonD.F.. Polygenic inheritance of breast cancer: implications for design of association studies.Genet Epidemiol.2003; 25: 190–202.
10.
de JongM.M., NolteI.M., te MeermanG.J.. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility.J Med Genet.2002; 39: 225–242
11.
MartinA.M., WeberB.L.. Genetic and hormonal risk factors in breast cancer.J Natl Cancer Inst.2000; 92: 1126–1135.
12.
NarodS.A., FoulkesW.D.. BRCA1 and BRCA2: 1994 and beyond.Nat Rev Cancer.2004; 4: 665–676.
13.
KhannaK.K., JacksonS.P.. DNA double-strand breaks: signaling, repair and the cancer connection.Nat Genet.2001; 27: 247–254.
AbbottD.W., ThompsonM.E., Robinson-BenionC.. BRCA1 expression restores radiation resistance in BRCA1-defective cancer cells through enhancement of transcription-coupled DNA repair.J Biol Chem.1999; 274: 18808–18812.
21.
WangH., ZengZ.C., BuiT.A.. Nonhomologous end-joining of ionizing radiation-induced DNA double-stranded breaks in human tumor cells deficient in BRCA1 or BRCA2.Cancer Res.2001; 61: 270–277.
22.
ScullyR., XieA., NagarajuG.. Molecular Functions of BRCA1 in the DNA Damage Response.Cancer Biol Ther.2004; 3: 521–527. Epub 2004.
23.
PatelK.J., YuV.P., LeeH.. Involvement of Brca2 in DNA repair.Mol Cell.1998; 1: 347–357.
24.
BanS., ShinoharaT., HiraiY.. Chromosomal instability in BRCA1-or BRCA2-defective human cancer cells detected by spontaneous micronucleus assay.Mutat Res.2001; 474: 15–23.
25.
ScullyR., LivingstonD.M.. In search of the tumour-suppressor functions of BRCA1 and BRCA2.Nature.2000; 408: 429–432.
26.
KerrP., AshworthA.. New complexities for BRCA1 and BRCA2.Curr Biol.2001; 11: R668–676.
27.
ZhouB.B., ElledgeS.J.. The DNA damage response: putting checkpoints in perspective.Nature.2000; 408: 433–439.
28.
ScullyR., ChenJ., PlugA.. Association of BRCA1 with Rad51 in mitotic and meiotic cells.Cell.1997; 88: 265–275.
29.
ZhongQ., ChenC.F., LiS.. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response.Science.1999; 285: 747–750.
30.
BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.Genes Dev.2000; 14: 927–939.
31.
BocharD.A., WangL., BeniyaH.. BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer.Cell.2000; 102: 257–265.
32.
YeQ., HuY.F., ZhongH.. BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations.J Cell Biol.2001; 155: 911–921. Epub 2001 Dec 10.
33.
PaoG.M., JanknechtR., RuffnerH.. CBP/p300 interact with and function as transcriptional coactivators of BRCA1.Proc Natl Acad Sci U S A.2000; 97: 1020–1025.
34.
YardenR.I., BrodyL.C.. BRCA1 interacts with components of the histone deacetylase complex.Proc Natl Acad Sci U S A.1999; 96: 4983–4988.
35.
CantorS.B., BellD.W., GanesanS.. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.Cell.2001; 105: 149–160.
36.
DaviesA.A., MassonJ.Y., McIlwraithM.J.. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein.Mol Cell.2001; 7: 273–282.
37.
ChenP.L., ChenC.F., ChenY.. The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment.Proc Natl Acad Sci U S A.1998; 95: 5287–5292.
38.
SavitskyK., SfezS., TagleD.A.. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.Hum Mol Genet.1995; 4: 2025–2032.
39.
KhannaK.K.. Cancer risk and the ATM gene: a continuing debate.J Natl Cancer Inst.2000; 92: 795–802.
40.
SwiftM., MorrellD., MasseyR.B.. Incidence of cancer in 161 families affected by ataxia-telangiectasia.N Engl J Med.1991; 325: 1831–1836.
41.
Geoffroy-PerezB., JaninN., OssianK.. Cancer risk in heterozygotes for ataxia-telangiectasia.Int J Cancer.2001; 93: 288–293.
42.
OlsenJ.H., HahnemannJ.M., Borresen-DaleA.L.. Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries.J Natl Cancer Inst.2001; 93: 121–127.
43.
TelatarM., TeraokaS., WangZ.. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.Am J Hum Genet.1998; 62: 86–97.
44.
FitzGeraldM.G., BeanJ.M., HegdeS.R.. Heterozygous ATM mutations do not contribute to early onset of breast cancer.Nat Genet.1997; 15: 307–310.
45.
GattiR.A., TwardA., ConcannonP.. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.Mol Genet Metab.1999; 68: 419–423.
46.
Chenevix-TrenchG., SpurdleA.B., GateiM.. Dominant negative ATM mutations in breast cancer families.J Natl Cancer Inst.2002; 94: 205–215. Erratum in: J Natl Cancer Inst. 2002;94: 952.
47.
SpringK., AhangariF., ScottS.P.. Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.Nat Genet.2002; 32: 185–190. Epub 2002 Aug 26.
48.
BakkenistC.J., KastanM.B.. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation.Nature.2003; 421: 499–506.
49.
GarberJ.E., GoldsteinA.M., KantorA.F.. Follow-up study of twenty-four families with Li-Fraumeni syndrome.Cancer Res.1991; 51: 6094–6097.
50.
MalkinD., LiF.P., StrongL.C.. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.Science.1990; 250: 1233–1238. Erratum in: Science. 1993;259: 878.
51.
EastonD.F., BishopD.T., FordD.. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.Am J Hum Genet.1993; 52: 678–701.
52.
VogelsteinB., LaneD., LevineA.J.. Surfing the p53 network.Nature.2000; 408: 307–310.
53.
GascoM., YulugI.G., CrookT.. TP53 mutations in familial breast cancer: functional aspects.Hum Mutat.2003; 21: 301–306.
54.
CrookT., CrosslandS., CromptonM.R.. p53 mutations in BRCA1-associated familial breast cancer.Lancet.1997; 350: 638–639.
55.
SmithP.D., CrosslandS., ParkerG.. Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.Oncogene.1999; 18: 2451–2459.
56.
PharoahP.D., DayN.E., CaldasC.. Somatic mutations in the p53 gene and prognosis in breast cancer: a meta-analysis.Br J Cancer.1999; 80: 1968–1973.
57.
BellD.W., VarleyJ.M., SzydloT.E.. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.Science.1999; 286: 2528–2531.
58.
MatsuokaS., HuangM., ElledgeS.J.. et al. Linkage of ATM to cell cycle regulation by the Chk2 protein kinase.Science.1998; 282: 1893–1897.
59.
MatsuokaS., RotmanG., OgawaA.. Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro.Proc Natl Acad Sci U S A.2000; 97: 10389–10394.
60.
ChehabN.H., MalikzayA., AppelM.. Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53.Genes Dev.2000; 14: 278–288.
61.
ShiehS.Y., AhnJ., TamaiK.. The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites.Genes Dev.2000; 14: 289–300. Erratum in: Genes Dev. 2000;14: 750.
62.
LeeJ.S., CollinsK.M., BrownA.L.. hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response.Nature.2000; 404: 201–204.
63.
Meijers-HeijboerH., van den OuwelandA., KlijnJ.. Low-penetrance susceptibility to breast cancer due to CHEK2(∗)1100delC in noncarriers of BRCA1 or BRCA2 mutations.Nat Genet.2002; 31: 55–59. Epub 2002 Apr 22.
64.
VahteristoP., BartkovaJ., EerolaH.. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.Am J Hum Genet.2002; 71: 432–438. Epub 2002 Jul 28.
65.
SchutteM., SealS., BarfootR.. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.Am J Hum Genet.2003; 72: 1023–8. Epub 2003 Feb 27.
66.
OldenburgR.A., Kroeze-JansemaK., KraanJ.. The CHEK2∗1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families.Cancer Res.2003; 63: 8153–8157.
67.
LiJ., YenC., LiawD.. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.Science.1997; 275: 1943–1947.
68.
SteckP.A., PershouseM.A., JasserS.A.. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.Nat Genet.1997; 15: 356–362.
69.
LiawD., MarshD.J., LiJ.. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.Nat Genet.1997; 16: 64–67.
70.
NelenM.R., van StaverenW.C., PeetersE.A.. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.Hum Mol Genet.1997; 6: 1383–1387.
71.
TsouH.C., TengD.H., PingX.L.. The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.Am J Hum Genet.1997; 61: 1036–1043.
72.
MarshD.J., KumJ.B., LunettaK.L.. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Hum Mol Genet.1999; 8: 1461–1472.
73.
EngC., PeacockeM.. PTEN and inherited hamartoma-cancer syndromes.Nat Genet.1998; 19: 223.
74.
FeilotterH.E., CoulonV., McVeighJ.L.. Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma.Br J Cancer.1999; 79: 718–723.
75.
TengD.H., HuR., LinH.. MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines.Cancer Res.1997; 57: 5221–5225.
76.
SinghB., IttmannM.M., KrolewskiJ.J.. Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locus.Genes Chromosomes Cancer.1998; 21: 166–171.
77.
MaehamaT., DixonJ.E.. The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate.J Biol Chem.1998; 273: 13375–13378.
78.
RenaG., GuoS., CichyS.C.. Phosphorylation of the transcription factor forkhead family member FKHR by protein kinase B.J Biol Chem.1999; 274: 17179–17183.
79.
NakamuraN., RamaswamyS., VazquezF.. Forkhead transcription factors are critical effectors of cell death and cell cycle arrest downstream of PTEN.Mol Cell Biol.2000; 20: 8969–8982.
80.
TranH., BrunetA., GrenierJ.M.. DNA repair pathway stimulated by the forkhead transcription factor FOXO3a through the Gadd45 protein.Science.2002; 296: 530–534.
81.
MonteiroA.N.. BRCA1: the enigma of tissue-specific tumor development.Trends Genet.2003; 19: 312–315.
82.
ElledgeS.J., AmonA.. The BRCA1 suppressor hypothesis: an explanation for the tissue-specific tumor development in BRCA1 patients.Cancer Cell.2002; 1: 129–132.
83.
SigurdsonA.J., HauptmannM., ChatterjeeN.. Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.BMC Cancer.2004; 4: 9.
84.
RutterJ.L., SmithA.M., DavilaM.R.. Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.Hum Mutat.2003; 22: 121–128.
85.
KarppinenS.M., VuoskuJ., HeikkinenK.. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.Eur J Cancer.2003; 39: 366–371.
86.
LuoL., LeiH., DuQ.. No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22.Int J Cancer.2002; 98: 638–639
87.
KarppinenS.M., HeikkinenK., RapakkoK., Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.J Med Genet.2004; 41: e114.
88.
ThaiT.H., DuF., TsanJ.T.. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.Hum Mol Genet.1998; 7: 195–202.
89.
GhimentiC., SensiE., PresciuttiniS.. Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations.Genes Chromosomes Cancer.2002; 33: 235–242.
90.
IshitobiM., MiyoshiY., HasegawaS.. Mutational analysis of BARD1 in familial breast cancer patients in Japan.Cancer Lett.2003; 200: 1–7.
91.
FuY.P., YuJ.C., ChengT.C.. Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility.Cancer Res.2003; 63: 2440–2446.
92.
SensiE., TancrediM., AretiniP.. Clinicopathological significance of GADD45 gene alterations in human familial breast carcinoma.Breast Cancer Res Treat.2004; 87: 197–201.
93.
MonteiroA.N., ZhangS., PhelanC.M., Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families.J Med Genet.2003; 40: e51.
94.
KuschelB., AuranenA., McBrideS.. Variants in DNA double-strand break repair genes and breast cancer susceptibility.Hum Mol Genet.2002; 11: 1399–1407.
95.
HanJ., HankinsonS.E., RanuH.. Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses’ Health Study.Carcinogenesis.2004; 25: 189–195. Epub 2003 Oct 24.
96.
HeikkinenK., KarppinenS.M., SoiniY.. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.J Med Genet.2003; 40: e131.
97.
ForstiA., AngeliniS., FestaF.. Single nucleotide polymorphisms in breast cancer.Oncol Rep.2004; 11: 917–922.
98.
SteffenJ., VaronR., MosorM.. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.Int J Cancer.2004; 111: 67–71.
99.
GorskiB., DebniakT., MasojcB.. Germline 657del5 mutation in the NBS1 gene in breast cancer patients.Int J Cancer.2003; 106: 379–381. Erratum in: Int J Cancer. 2003;106: 984.
100.
KatoM., YanoK., MatsuoF.. Identification of Rad51 alteration in patients with bilateral breast cancer.J Hum Genet.2000; 45: 133–137.
101.
BellD.W., WahrerD.C., KangD.H.. Common nonsense mutations in RAD52.Cancer Res.1999; 59: 3883–3888.
102.
Levy-LahadE., LahadA., EisenbergS.. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.Proc Natl Acad Sci U S A.2001; 98: 3232–3236.
103.
KadouriL., Kote-JaraiZ., HubertA.. A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers.Br J Cancer.2004; 90: 2002–2005.
104.
JakubowskaA., NarodS.A., GoldgarD.E.. Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland.Cancer Epidemiol Biomarkers Prev.2003; 12: 457–459.
105.
WangW.W., SpurdleA.B., KolachanaP.. A single nucleotide polymorphism in the 5’ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers.Cancer Epidemiol Biomarkers Prev.2001; 10: 955–960.
106.
TongD., VolmT., EberhardtE.. Rad52 gene mutations in breast/ovarian cancer families and sporadic ovarian carcinoma patients.Oncol Rep.2003; 10: 1551–1553.
107.
HanJ., HankinsonS.E., De VivoI.. No association between a stop codon polymorphism in RAD52 and breast cancer risk.Cancer Epidemiol Biomarkers Prev.2002; 11 (10 pt 1): 1138–1139.
108.
MatsudaM., MiyagawaK., TakahashiM.. Mutations in the RAD54 recombination gene in primary cancers.Oncogene.1999; 18: 3427–3430.
109.
SmithT.R., LevineE.A., PerrierN.D.. DNA-repair genetic polymorphisms and breast cancer risk.Cancer Epidemiol Biomarkers Prev.2003; 12 (11 pt 1): 1200–1204.
110.
KumarR., HoglundL., ZhaoC.. Single nucleotide polymorphisms in the XPG gene: determination of role in DNA repair and breast cancer risk.Int J Cancer.2003; 103: 671–675.
111.
MoullanN., CoxD.G., AngeleS.. Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy.Cancer Epidemiol Biomarkers Prev.2003; 12 (11 pt 1): 1168–1174.
112.
DuellE.J., MillikanR.C., PittmanG.S.. Polymorphisms in the DNA repair gene XRCC1 and breast cancer.Cancer Epidemiol Biomarkers Prev.2001; 10: 217–222.
113.
ShuX.O., CaiQ., GaoY.T.. A population-based case-control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer.Cancer Epidemiol Biomarkers Prev.2003; 12: 1462–1467.
114.
SmithT.R., MillerM.S., LohmanK.. Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer.Cancer Lett.2003; 190: 183–190.
115.
FigueiredoJ.C., KnightJ.A., BriollaisL.. Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry.Cancer Epidemiol Biomarkers Prev.2004; 13: 583–591.
116.
Rodriguez-LopezR., OsorioA., Sanchez-PulidoL.. No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families.Int J Cancer.2003; 103: 136–137.
117.
RafiiS., O'ReganP., XinarianosG.. A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer.Hum Mol Genet.2002; 11: 1433–1438.
118.
JacobsenN.R., NexoB.A., OlsenA.. No association between the DNA repair gene XRCC3 T241M polymorphism and risk of skin cancer and breast cancer.Cancer Epidemiol Biomarkers Prev.2003; 12: 584–585.
119.
GoodeE.L., UlrichC.M., PotterJ.D.. Polymorphisms in DNA repair genes and associations with cancer risk.Cancer Epidemiol Biomarkers Prev.2002; 11: 1513–1530.
120.
van HaaftenG., VastenhouwN.L., NollenE.A.. Gene interactions in the DNA damage-response pathway identified by genome-wide RNA-interference analysis of synthetic lethality.Proc Natl Acad Sci U S A.2004; 101: 12992–12996. Epub 2004 Aug 23.
121.
MarnellosG.. High-throughput SNP analysis for genetic association studies.Curr Opin Drug Discov Devel.2003; 6: 317–321.
122.
KirkB.W., FeinsodM., FavisR.. Single nucleotide polymorphism seeking long term association with complex disease.Nucleic Acids Res.2002; 30: 3295–3311.