|
1
|
Kar SP, Beesley J, Amin Al Olama A,
Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S,
Ramus SJ, Thompson DJ, et al: Genome-wide meta-analyses of breast,
ovarian, and prostate cancer association studies identify multiple
new susceptibility loci shared by at least two cancer types. Cancer
Discov. 6:1052–1067. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Paulo P, Pinto P, Peixoto A, Santos C,
Pinto C, Rocha P, Veiga I, Soares G, Machado C, Ramos F and
Teixeira MR: Validation of a next-generation sequencing pipeline
for the molecular diagnosis of multiple inherited cancer
predisposing syndromes. J Mol Diagn. 19:502–513. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Pinto P, Paulo P, Santos C, Rocha P, Pinto
C, Veiga I, Pinheiro M, Peixoto A and Teixeira MR: Implementation
of next-generation sequencing for molecular diagnosis of hereditary
breast and ovarian cancer highlights its genetic heterogeneity.
Breast Cancer Res Treat. 159:245–256. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Breast Cancer Association Consortium, .
Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C,
Wahlström C, Pooley KA, Parsons MT, Fortuno C, et al: Breast cancer
risk genes-association analysis in more than 113,000 women. N Engl
J Med. 384:428–439. 2021. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Eccles DM, Mitchell G, Monteiro ANA,
Schmutzler R, Couch FJ, Spurdle AB and Gómez-García EB; ENIGMA
Clinical Working Group, : BRCA1 and BRCA2 genetic testing-pitfalls
and recommendations for managing variants of uncertain clinical
significance. Ann Oncol. 26:2057–2065. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Gasparini P, Lovat F, Fassan M, Casadei L,
Cascione L, Jacob NK, Carasi S, Palmieri D, Costinean S, Shapiro
CL, et al: Protective role of miR-155 in breast cancer through
RAD51 targeting impairs homologous recombination after irradiation.
Proc Natl Acad Sci USA. 111:4536–4541. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Lord CJ and Ashworth A: The DNA damage
response and cancer therapy. Nature. 481:287–294. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Prasad CB, Prasad SB, Yadav SS, Pandey LK,
Singh S, Pradhan S and Narayan G: Olaparib modulates DNA repair
efficiency, sensitizes cervical cancer cells to cisplatin and
exhibits anti-metastatic property. Sci Rep. 7:128762017. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Ratanaphan A: A DNA repair BRCA1 estrogen
receptor and targeted therapy in breast cancer. Int J Mol Sci.
13:14898–14916. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Conde J, Silva SN, Azevedo AP, Teixeira V,
Pina JE, Rueff J and Gaspar JF: Association of common variants in
mismatch repair genes and breast cancer susceptibility: A multigene
study. BMC Cancer. 9:3442009. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Silva SN, Costa B, Rueff J and Gaspar JF:
DNA repair perspectives in thyroid and breast cancer: The role of
DNA repair polymorphisms. DNA Repair and Human Health. Vengrova S:
InTech; 2011
|
|
12
|
Silva SN, Moita R, Azevedo AP, Gouveia R,
Manita I, Pina JE, Rueff J and Gaspar J: Menopausal age and XRCC1
gene polymorphisms: Role in breast cancer risk. Cancer Detect Prev.
31:303–309. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Silva SN, Tomar M, Paulo C, Gomes BC,
Azevedo AP, Teixeira V, Pina JE, Rueff J and Gaspar JF: Breast
cancer risk and common single nucleotide polymorphisms in
homologous recombination DNA repair pathway genes XRCC2, XRCC3,
NBS1 and RAD51. Cancer Epidemiol. 34:85–92. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Gomes BC, Silva SN, Azevedo AP, Manita I,
Gil OM, Ferreira TC, Limbert E, Rueff J and Gaspar JF: The role of
common variants of non-homologous end-joining repair genes XRCC4,
LIG4 and Ku80 in thyroid cancer risk. Oncol Rep. 24:1079–1085.
2010.PubMed/NCBI
|
|
15
|
Helleday T: The underlying mechanism for
the PARP and BRCA synthetic lethality: Clearing up the
misunderstandings. Mol Oncol. 5:387–393. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Lord CJ and Ashworth A: BRCAness
revisited. Nat Rev Cancer. 16:110–120. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Roy R, Chun J and Powell SN: BRCA1 and
BRCA2: Different roles in a common pathway of genome protection.
Nat Rev Cancer. 12:68–78. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Sonnenblick A, de Azambuja E, Azim HA Jr
and Piccart M: An update on PARP inhibitors-moving to the adjuvant
setting. Nat Rev Clin Oncol. 12:27–41. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Christou C and Kyriacou K: BRCA1 and Its
network of interacting partners. Biology (Basel). 2:40–63.
2013.PubMed/NCBI
|
|
20
|
Sharma B, Kaur RP, Raut S and Munshi A:
BRCA1 mutation spectrum, functions, and therapeutic strategies: The
story so far. Curr Probl Cancer. 42:189–207. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Colas C, Golmard L, de Pauw A, Caputo SM
and Stoppa-Lyonnet D: ‘Decoding hereditary breast cancer’ benefits
and questions from multigene panel testing. Breast. 45:29–35. 2019.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Calò V, Bruno L, La Paglia L, Perez M,
Margarese N, Di Gaudio F and Russo A: The clinical significance of
unknown sequence variants in BRCA genes. Cancers (Basel).
2:1644–1660. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Beitsch PD, Whitworth PW, Hughes K, Patel
R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, et
al: Underdiagnosis of hereditary breast cancer: Are genetic testing
guidelines a tool or an obstacle? J Clin Oncol. 37:453–460. 2019.
View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Kuchenbaecker KB, Hopper JL, Barnes DR,
Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE,
Milne RL, Andrieu N, et al: Risks of breast, ovarian, and
contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
JAMA. 317:24022017. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Martins V, Antunes AC, Cardoso J, Santos L
and Gil OM: Influence of age and gender in response to γ-radiation
in Portuguese individuals using chromosomal aberration
assay-preliminary findings. Radiat Meas. 46:1000–1003. 2011.
View Article : Google Scholar
|
|
26
|
Gil OM, Oliveira NG, Rodrigues AS, Laires
A, Ferreira TC, Limbert E, Léonard A, Gerber G and Rueff J:
Cytogenetic alterations and oxidative stress in thyroid cancer
patients after iodine-131 therapy. Mutagenesis. 15:69–75. 2000.
View Article : Google Scholar
|
|
27
|
Rodrigues AS, Oliveira NG, Gil OM, Léonard
A and Rueff J: Use of cytogenetic indicators in radiobiology.
Radiat Prot Dosimetry. 115:455–460. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Rueff J, Brás A, Cristóvão L, Mexia J, Sá
da Costa M and Pires V: DNA strand breaks and chromosomal
aberrations induced by H2O2 and 60Co gamma-radiation. Mutat Res.
289:197–204. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Cytogenetic Dosimetry, . Applications in
preparedness for and response to radiation emergencies.
International Atomic Energy Agency; Vienna: 2011
|
|
30
|
Antunes AC, Martins V, Cardoso J, Santos L
and Monteiro Gil O: The cytokinesis-blocked micronucleus assay:
Dose estimation and inter-individual differences in the response to
γ-radiation. Mutat Res Genet Toxicol Environ Mutagen. 760:17–22.
2014. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Oliveira NG, Neves M, Rodrigues AS,
Monteiro Gil O, Chaveca T and Rueff J: Assessment of the adaptive
response induced by quercetin using the MNCB peripheral blood human
lymphocytes assay. Mutagenesis. 15:77–83. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Pingarilho M, Oliveira NG, Martins C,
Fernandes AS, de Lima JP, Rueff J and Gaspar JF: Genetic
polymorphisms in detoxification and DNA repair genes and
susceptibility to glycidamide-induced DNA damage. J Toxicol Environ
Health A. 75:920–933. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Martins V, Antunes AC and Monteiro Gil O:
Implementation of a dose-response curve for γ-radiation in the
Portuguese population by use of the chromosomal aberration assay.
Mutat Res. 750:50–54. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Cullen SP and Martin SJ: Caspase
activation pathways: Some recent progress. Cell Death Differ.
16:935–938. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Gudmundsdottir K and Ashworth A: The roles
of BRCA1 and BRCA2 and associated proteins in the maintenance of
genomic stability. Oncogene. 25:5864–5874. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Silva SN, Gomes BC, André S, Félix A,
Rodrigues AS and Rueff J: Male and female breast cancer: The two
faces of the same genetic susceptibility coin. Breast Cancer Res
Treat. 188:295–305. 2021. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Guidugli L, Carreira A, Caputo SM, Ehlen
A, Galli A, Monteiro AN, Neuhausen SL, Hansen TV, Couch FJ and
Vreeswijk MP; ENIGMA consortium, : Functional assays for analysis
of variants of uncertain significance in BRCA2. Hum Mutat.
35:151–164. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Boonen RACM, Rodrigue A, Stoepker C,
Wiegant WW, Vroling B, Sharma M, Rother MB, Celosse N, Vreeswijk
MPG, Couch F, et al: Functional analysis of genetic variants in the
high-risk breast cancer susceptibility gene PALB2. Nat Commun.
10:52962019. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Millot GA, Carvalho MA, Caputo SM,
Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen
TVO, Galli A, et al: A guide for functional analysis of BRCA1
variants of uncertain significance. Hum Mutat. 33:1526–1537. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Obe G, Pfeiffer P, Savage JRK, Johannes C,
Goedecke W, Jeppesen P, Natarajan AT, Martínez-López W, Folle GA
and Drets ME: Chromosomal aberrations: Formation, identification
and distribution. Mutat Res. 504:17–36. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Terzoudi GI and Pantelias GE: Cytogenetic
methods for biodosimetry and risk individualisation after exposure
to ionising radiation. Radiat Prot Dosimetry. 122:513–520. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Sommer S, Buraczewska I and Kruszewski M:
Micronucleus assay: The state of art, and future directions. Int J
Mol Sci. 21:15342020. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Murgia E, Ballardin M, Bonassi S, Rossi AM
and Barale R: Validation of micronuclei frequency in peripheral
blood lymphocytes as early cancer risk biomarker in a nested
case-control study. Mutat Res. 639:27–34. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Cardinale F, Bruzzi P and Bolognesi C:
Role of micronucleus test in predicting breast cancer
susceptibility: A systematic review and meta-analysis. Br J Cancer.
106:780–790. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Scott D, Hu Q and Roberts SA: Dose-rate
sparing for micronucleus induction in lymphocytes of controls and
ataxia-telangiectasia heterozygotes exposed to 60Co
gamma-irradiation in vitro. Int J Radiat Biol. 70:521–527. 1996.
View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Gunasekarana V, Raj GV and Chand P: A
comprehensive review on clinical applications of comet assay. J
Clin Diagn Res. 9:GE01–GE05. 2015.PubMed/NCBI
|
|
47
|
Kopjar N, Garaj-Vrhovac V and Milas I:
Assessment of chemotherapy-induced DNA damage in peripheral blood
leukocytes of cancer patients using the alkaline comet assay.
Teratog Carcinog Mutagen. 22:13–30. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Vinnikov V, Hande MP, Wilkins R, Wojcik A,
Zubizarreta E and Belyakov O: Prediction of the acute or late
radiation toxicity effects in radiotherapy patients using ex vivo
induced biodosimetric markers: A review. J Pers Med. 10:2852020.
View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Kaur S, Sangeeta, Galhna KK and Gautam N:
Assessment of radiation induced DNA damage in human peripheral
blood lymphocytes using COMET assay. Int J Life Sci Scienti Res.
3:1208–1214. 2017. View Article : Google Scholar
|
|
50
|
Majtnerová P and Roušar T: An overview of
apoptosis assays detecting DNA fragmentation. Mol Biol Rep.
45:1469–1478. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Brignoni L, Cappetta M, Colistro V, Sans
M, Artagaveytia N, Bonilla C and Bertoni B: Genomic diversity in
sporadic breast cancer in a Latin American population. Genes
(Basel). 11:12722020. View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Xu GP, Zhao Q, Wang D, Xie WY, Zhang LJ,
Zhou H, Chen SZ and Wu LF: The association between BRCA1 gene
polymorphism and cancer risk: A meta-analysis. Oncotarget.
9:8681–8694. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Majewski J and Pastinen T: The study of
eQTL variations by RNA-seq: From SNPs to phenotypes. Trends Genet.
27:72–79. 2011. View Article : Google Scholar : PubMed/NCBI
|
