|
1
|
Stewart BW and Wild CP (eds): World Cancer
Report 2014. International Agency for Research on Cancer, WHO,
2014.
|
|
2
|
Testa U, Castelli G and Pelosi E: Breast
cancer: A molecularly heterogenous disease needing subtype-specific
treatments. Med Sci (Basel). 8(18)2020.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Almutlaq BA, Almuazzi RF, Almuhayfir AA,
Alfouzan AM, Alshammari BT, AlAnzi HS and Ahmed HG: Breast cancer
in Saudi Arabia and its possible risk factors. J Cancer Policy.
12:83–89. 2017.
|
|
4
|
Siegel RL, Miller KD and Jemal A: Cancer
statistics, 2018. CA Cancer J Clin. 68:7–30. 2018.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Zhang J, Späth SS, Marjani SL, Zhang W and
Pan X: Characterization of cancer genomic heterogeneity by
next-generation sequencing advances precision medicine in cancer
treatment. Precis Clin Med. 1:29–48. 2018.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Fasching PA, Ekici AB, Adamietz BR,
Wachter DL, Hein A, Bayer CM, Häberle L, Loehberg CR, Jud SM,
Heusinger K, et al: Breast cancer risk-genes, environment and
clinics. Geburtshilfe Frauenheilkd. 71:1056–1066. 2011.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Rudolph A, Chang-Claude J and Schmidt MK:
Gene-environment interaction and risk of breast cancer. Br J
Cancer. 114:125–133. 2016.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Hiatt RA, Haslam SZ and Osuch J: Breast
Cancer and the Environment Research Centers. The breast cancer and
the environment research centers: Transdisciplinary research on the
role of the environment in breast cancer etiology. Environ Health
Perspect. 117:1814–1822. 2009.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Winters S, Martin C, Murphy D and Shokar
NK: Breast cancer epidemiology, prevention, and screening. Prog Mol
Biol Transl Sci. 151:1–32. 2017.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Parkin DM and Boyd L: 8. Cancers
attributable to overweight and obesity in the UK in 2010. Br J
Cancer. 105 (Suppl 2):S34–S37. 2011.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Nelson HD, Zakher B, Cantor A, Fu R,
Griffin J, O'Meara ES, Buist DS, Kerlikowske K, van Ravesteyn NT,
Trentham-Dietz A, et al: Risk factors for breast cancer for women
aged 40 to 49 years: A systematic review and meta-analysis. Ann
Intern Med. 156:635–648. 2012.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Collaborative Group on Hormonal Factors in
Breast Cancer. Menarche, menopause, and breast cancer risk:
Individual participant meta-analysis, including 118 964 women with
breast cancer from 117 epidemiological studies. Lancet Oncol.
13:1141–1151. 2012.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Fenga C: Occupational exposure and risk of
breast cancer. Biomed Rep. 4:282–292. 2016.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Elkum N, Al-Tweigeri T, Ajarim D,
Al-Zahrani A, Amer SM and Aboussekhra A: Obesity is a significant
risk factor for breast cancer in Arab women. BMC Cancer.
14(788)2014.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Gnant M, Mlineritsch B, Schippinger W,
Luschin-Ebengreuth G, Pöstlberger S, Menzel C, Jakesz R, Seifert M,
Hubalek M, Bjelic-Radisic V, et al: Endocrine therapy plus
zoledronic acid in premenopausal breast cancer. N Engl J Med.
360:679–691. 2009.PubMed/NCBI View Article : Google Scholar
|
|
16
|
McCormack VA and dos Santos Silva I:
Breast density and parenchymal patterns as markers of breast cancer
risk: A meta-analysis. Cancer Epidemiol Biomarkers Prev.
15:1159–1169. 2006.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Druesne-Pecollo N, Touvier M, Barrandon E,
Chan DS, Norat T, Zelek L, Hercberg S and Latino-Martel P: Excess
body weight and second primary cancer risk after breast cancer: A
systematic review and meta-analysis of prospective studies. Breast
Cancer Res Treat. 135:647–654. 2012.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Abderrahman B and Jordan VC: Rethinking
extended adjuvant antiestrogen therapy to increase survivorship in
breast cancer. JAMA Oncol. 4:15–16. 2018.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Apostolou P and Fostira F: Hereditary
breast cancer: The era of new susceptibility genes. Biomed Res Int.
2013(747318)2013.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Michailidou K, Beesley J, Lindstrom S,
Canisius S, Dennis J, Lush MJ, Maranian MJ, Bolla MK, Wang Q, Shah
M, et al: Genome-wide association analysis of more than 120,000
individuals identifies 15 new susceptibility loci for breast
cancer. Nat Genet. 47:373–380. 2015.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Luen S, Virassamy B, Savas P, Salgado R
and Loi S: The genomic landscape of breast cancer and its
interaction with host immunity. Breast. 29:241–250. 2016.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Mundhofir FE, Wulandari CE, Prajoko YW and
Winarni TI: BRCA1 gene mutation screening for the hereditary breast
and/or ovarian cancer syndrome in breast cancer cases: A first high
resolution DNA melting analysis in Indonesia. Asian Pac J Cancer
Prev. 17:1539–1546. 2016.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Yoshida K and Miki Y: Role of BRCA1 and
BRCA2 as regulators of DNA repair, transcription, and cell cycle in
response to DNA damage. Cancer Sci. 95:866–871. 2004.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Couch FJ, Nathanson KL and Offit K: Two
decades after BRCA: Setting paradigms in personalized cancer care
and prevention. Science. 343:1466–1470. 2014.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Byler S, Goldgar S, Heerboth S, Leary M,
Housman G, Moulton K and Sarkar S: Genetic and epigenetic aspects
of breast cancer progression and therapy. Anticancer Res.
34:1071–1077. 2014.PubMed/NCBI
|
|
26
|
Forbes SA, Beare D, Boutselakis H, Bamford
S, Bindal N, Tate J, Cole CG, Ward S, Dawson E, Ponting L, et al:
COSMIC: Somatic cancer genetics at high-resolution. Nucleic Acids
Res. 45:D777–D783. 2017.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Marcus L, Lemery SJ, Keegan P and Pazdur
R: FDA approval summary: Pembrolizumab for the treatment of
microsatellite instability-high solid tumors. Clin Cancer Res.
25:3753–3758. 2019.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Kurata K, Kubo M, Mori H, Kawaji H,
Motoyama Y, Kuroki L, Yamada M, Kaneshiro K, Kai M and Nakamura M:
Abstract P1-06-11: Microsatellite instability in triple negative
breast cancers. Cancer Res. 79 (Suppl 4)(P1-06-11)2019.
|
|
29
|
Bonneville R, Krook MA, Kautto EA, Miya J,
Wing MR, Chen HZ, Reeser JW, Yu L and Roychowdhury S: Landscape of
microsatellite instability across 39 cancer types. JCO Precis
Oncol: Oct 3, 2017 (Epub ahead of print). doi:
10.1200/PO.17.00073.
|
|
30
|
Le Du F, Eckhardt BL, Lim B, Litton JK,
Moulder S, Meric-Bernstam F, Gonzalez-Angulo AM and Ueno NT: Is the
future of personalized therapy in triple-negative breast cancer
based on molecular subtype? Oncotarget. 6:12890–12908.
2015.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Liu YR, Jiang YZ, Xu XE, Yu KD, Jin X, Hu
X, Zuo WJ, Hao S, Wu J, Liu GY, et al: Comprehensive transcriptome
analysis identifies novel molecular subtypes and subtype-specific
RNAs of triple-negative breast cancer. Breast Cancer Res.
18(33)2016.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Sachdev JC, Sandoval AC and Jahanzeb M:
Update on precision medicine in breast cancer. Cancer Treat Res.
178:45–80. 2019.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Nagahashi M, Shimada Y, Ichikawa H,
Kameyama H, Takabe K, Okuda S and Wakai T: Next generation
sequencing-based gene panel tests for the management of solid
tumors. Cancer Sci. 110:6–15. 2019.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Smith NG, Gyanchandani R, Shah OS, Gurda
GT, Lucas PC, Hartmaier RJ, Brufsky AM, Puhalla S, Bahreini A, Kota
K, et al: Targeted mutation detection in breast cancer using
MammaSeq™. Breast Cancer Res. 21(22)2019.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Desmedt C, Voet T, Sotiriou C and Campbell
PJ: Next-generation sequencing in breast cancer: First take home
messages. Curr Opin Oncol. 24:597–604. 2012.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Ma R, Gong J and Jiang X: Novel
applications of next-generation sequencing in breast cancer
research. Genes Dis. 4:149–153. 2017.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Shrestha B and Dunn L: The declaration of
Helsinki on medical research involving human subjects: A review of
seventh revision. J Nepal Health Res Counc. 17:548–552.
2020.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Arteche-López A, Ávila-Fernández A, Romero
R, Riveiro-Álvarez R, López-Martínez MA, Giménez-Pardo A,
Vélez-Monsalve C, Gallego-Merlo J, García-Vara I, Almoguera B, et
al: Sanger sequencing is no longer always necessary based on a
single-center validation of 1109 NGS variants in 825 clinical
exomes. Sci Rep. 11(5697)2021.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Donnelly TT, Khater AH, Al-Bader SB, Al
Kuwari MG, Malik M, Al-Meer N, Singh R and Fung T: Factors that
influence awareness of breast cancer screening among Arab women in
Qatar: Results from a cross sectional survey. Asian Pac J Cancer
Prev. 15:10157–10164. 2014.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Azaiza F and Cohen M: Health beliefs and
rates of breast cancer screening among Arab women. J Womens Health
(Larchmt). 15:520–530. 2006.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Baron-Epel O, Friedman N and Lernau O:
Reducing disparities in mammography-use in a multicultural
population in Israel. Int J Equity Health. 8(19)2009.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Bener A, Ayub H, Kakil R and Ibrahim W:
Patterns of cancer incidence among the population of Qatar: A
worldwide comparative study. Asian Pac J Cancer Prev. 9:19–24.
2008.PubMed/NCBI
|
|
43
|
Najjar H and Easson A: Age at diagnosis of
breast cancer in Arab nations. Int J Surg. 8:448–452.
2010.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Soskolne V, Marie S and Manor O: Beliefs,
recommendations and intentions are important explanatory factors of
mammography screening behavior among Muslim Arab women in Israel.
Health Educ Res. 22:665–676. 2007.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Tarabeia J, Baron-Epel O, Barchana M,
Liphshitz I, Ifrah A, Fishler Y and Green MS: A comparison of
trends in incidence and mortality rates of breast cancer, incidence
to mortality ratio and stage at diagnosis between Arab and Jewish
women in Israel, 1979-2002. Eur J Cancer Prev. 16:36–42.
2007.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Bai X, Zhang E, Ye H, Nandakumar V, Wang
Z, Chen L, Tang C, Li J, Li H, Zhang W, et al: PIK3CA and TP53 gene
mutations in human breast cancer tumors frequently detected by ion
torrent DNA sequencing. PLoS One. 9(e99306)2014.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Cho SH, Jeon J and Kim SI: Personalized
medicine in breast cancer: A systematic review. J Breast Cancer.
15:265–272. 2012.PubMed/NCBI View Article : Google Scholar
|
|
48
|
van den Brandt PA, Spiegelman D, Yaun SS,
Adami HO, Beeson L, Folsom AR, Fraser G, Goldbohm RA, Graham S,
Kushi L, et al: Pooled analysis of prospective cohort studies on
height, weight, and breast cancer risk. Am J Epidemiol.
152:514–527. 2000.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Gallagher EJ and LeRoith D: Obesity and
diabetes: The increased risk of cancer and cancer-related
mortality. Physiol Rev. 95:727–748. 2015.PubMed/NCBI View Article : Google Scholar
|
|
50
|
Gregor MF and Hotamisligil GS:
Inflammatory mechanisms in obesity. Annu Rev Immunol. 29:415–445.
2011.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Seo BR, Bhardwaj P, Choi S, Gonzalez J,
Andresen Eguiluz RC, Wang K, Mohanan S, Morris PG, Du B, Zhou XK,
et al: Obesity-dependent changes in interstitial ECM mechanics
promote breast tumorigenesis. Sci Transl Med.
7(301ra130)2015.PubMed/NCBI View Article : Google Scholar
|
|
52
|
Anstey EH, Shoemaker ML, Barrera CM,
O'Neil ME, Verma AB and Holman DM: Breastfeeding and breast cancer
risk reduction: Implications for black mothers. Am J Prev Med. 53
(Suppl 1):S40–S46. 2017.PubMed/NCBI View Article : Google Scholar
|
|
53
|
Levine AJ: p53, the cellular gatekeeper
for growth and division. Cell. 88:323–331. 1997.PubMed/NCBI View Article : Google Scholar
|
|
54
|
Langerød A, Zhao H, Borgan Ø, Nesland JM,
Bukholm IR, Ikdahl T, Kåresen R, Børresen-Dale AL and Jeffrey SS:
TP53 mutation status and gene expression profiles are powerful
prognostic markers of breast cancer. Breast Cancer Res.
9(R30)2007.PubMed/NCBI View Article : Google Scholar
|
|
55
|
Petitjean A, Mathe E, Kato S, Ishioka C,
Tavtigian SV, Hainaut P and Olivier M: Impact of mutant p53
functional properties on TP53 mutation patterns and tumor
phenotype: Lessons from recent developments in the IARC TP53
database. Hum Mutat. 28:622–629. 2007.PubMed/NCBI View Article : Google Scholar
|
|
56
|
Silwal-Pandit L, Vollan HK, Chin SF, Rueda
OM, McKinney S, Osako T, Quigley DA, Kristensen VN, Aparicio S,
Børresen-Dale AL, et al: TP53 mutation spectrum in breast cancer is
subtype specific and has distinct prognostic relevance. Clin Cancer
Res. 20:3569–3580. 2014.PubMed/NCBI View Article : Google Scholar
|
|
57
|
Ko LJ and Prives C: p53: Puzzle and
paradigm. Genes Dev. 10:1054–1072. 1996.PubMed/NCBI View Article : Google Scholar
|
|
58
|
Cancer Genome Atlas Network. Comprehensive
molecular portraits of human breast tumours. Nature. 490:61–70.
2012.PubMed/NCBI View Article : Google Scholar
|
|
59
|
Bai H, Yu J, Jia S, Liu X, Liang X and Li
H: Prognostic value of the TP53 mutation location in metastatic
breast cancer as detected by next-generation sequencing. Cancer
Manag Res. 13:3303–3316. 2021.PubMed/NCBI View Article : Google Scholar
|
|
60
|
Ren J, Wang B and Li J: Integrating
proteomic and phosphoproteomic data for pathway analysis in breast
cancer. BMC Syst Biol. 12 (Suppl 8)(S130)2018.PubMed/NCBI View Article : Google Scholar
|
|
61
|
Andrikopoulou A, Terpos E, Chatzinikolaou
S, Apostolidou K, Ntanasis-Stathopoulos I, Gavriatopoulou M,
Dimopoulos MA and Zagouri F: TP53 mutations determined by targeted
NGS in breast cancer: A case-control study. Oncotarget.
12:2206–2214. 2021.PubMed/NCBI View Article : Google Scholar
|
|
62
|
Bader AG, Kang S and Vogt PK:
Cancer-specific mutations in PIK3CA are oncogenic in vivo. Proc
Natl Acad Sci USA. 103:1475–1479. 2006.PubMed/NCBI View Article : Google Scholar
|
|
63
|
Kang S, Bader AG and Vogt PK:
Phosphatidylinositol 3-kinase mutations identified in human cancer
are oncogenic. Proc Natl Acad Sci USA. 102:802–807. 2005.PubMed/NCBI View Article : Google Scholar
|
|
64
|
Fresno Vara JA, Casado E, de Castro J,
Cejas P, Belda-Iniesta C and González-Barón M: PI3K/Akt signalling
pathway and cancer. Cancer Treat Rev. 30:193–204. 2004.PubMed/NCBI View Article : Google Scholar
|
|
65
|
Noorolyai S, Shajari N, Baghbani E,
Sadreddini S and Baradaran B: The relation between PI3K/AKT
signalling pathway and cancer. Gene. 698:120–128. 2019.PubMed/NCBI View Article : Google Scholar
|
|
66
|
Janku F, Yap TA and Meric-Bernstam F:
Targeting the PI3K pathway in cancer: Are we making headway? Nat
Rev Clin Oncol. 15:273–291. 2018.PubMed/NCBI View Article : Google Scholar
|
|
67
|
Liu P, Cheng H, Roberts TM and Zhao JJ:
Targeting the phosphoinositide 3-kinase pathway in cancer. Nat Rev
Drug Discov. 8:627–644. 2009.PubMed/NCBI View Article : Google Scholar
|
|
68
|
Cizkova M, Susini A, Vacher S,
Cizeron-Clairac G, Andrieu C, Driouch K, Fourme E, Lidereau R and
Bièche I: PIK3CA mutation impact on survival in breast cancer
patients and in ERα, PR and ERBB2-based subgroups. Breast Cancer
Res. 14(R28)2012.PubMed/NCBI View Article : Google Scholar
|
|
69
|
Saal LH, Holm K, Maurer M, Memeo L, Su T,
Wang X, Yu JS, Malmström PO, Mansukhani M, Enoksson J, et al:
PIK3CA mutations correlate with hormone receptors, node metastasis,
and ERBB2, and are mutually exclusive with PTEN loss in human
breast carcinoma. Cancer Res. 65:2554–2559. 2005.PubMed/NCBI View Article : Google Scholar
|
|
70
|
Martínez-Sáez O, Chic N, Pascual T, Adamo
B, Vidal M, González-Farré B, Sanfeliu E, Schettini F, Conte B,
Brasó-Maristany F, et al: Frequency and spectrum of PIK3CA somatic
mutations in breast cancer. Breast Cancer Res.
22(45)2020.PubMed/NCBI View Article : Google Scholar
|
|
71
|
QIAGEN Manchester, Ltd.
therascreen® PIK3CA RGQ PCR Kit Instructions for Use
(Handbook), 2019 (cited 2022 16 january); Available from:
https://www.accessdata.fda.gov/cdrh_docs/pdf19/P190001C.pdf.
|
|
72
|
Bellevicine C, Sgariglia R, Nacchio M, De
Luca C, Pisapia P, Pepe F and Troncone G: Molecular testing of
thyroid fine-needle aspiration: Local issues and solutions. An
interventional cytopathologist perspective. J Mol Pathol.
2:233–240. 2021.
|
|
73
|
Hempel D, Ebner F, Garg A, Trepotec Z,
Both A, Stein W, Gaumann A, Güttler L, Janni W, DeGregorio A, et
al: Real world data analysis of next generation sequencing and
protein expression in metastatic breast cancer patients. Sci Rep.
10(10459)2020.PubMed/NCBI View Article : Google Scholar
|
|
74
|
Mosele F, Stefanovska B, Lusque A, Tran
Dien A, Garberis I, Droin N, Le Tourneau C, Sablin MP, Lacroix L,
Enrico D, et al: Outcome and molecular landscape of patients with
PIK3CA-mutated metastatic breast cancer. Ann Oncol. 31:377–386.
2020.PubMed/NCBI View Article : Google Scholar
|
|
75
|
Tang Y, Li J, Xie N, Yang X, Liu L, Wu H,
Tian C, He Y, Wang X, He Q, et al: PIK3CA gene mutations in the
helical domain correlate with high tumor mutation burden and poor
prognosis in metastatic breast carcinomas with late-line therapies.
Aging (Albany NY). 12:1577–1590. 2020.PubMed/NCBI View Article : Google Scholar
|
|
76
|
Anderson EJ, Mollon LE, Dean JL, Warholak
TL, Aizer A, Platt EA, Tang DH and Davis LE: A systematic review of
the prevalence and diagnostic workup of PIK3CA mutations in
HR+/HER2-metastatic breast cancer. Int J Breast Cancer.
2020(3759179)2020.PubMed/NCBI View Article : Google Scholar
|
|
77
|
Board RE, Wardley AM, Dixon JM, Armstrong
AC, Howell S, Renshaw L, Donald E, Greystoke A, Ranson M, Hughes A
and Dive C: Detection of PIK3CA mutations in circulating free DNA
in patients with breast cancer. Breast Cancer Res Treat.
120:461–467. 2010.PubMed/NCBI View Article : Google Scholar
|
|
78
|
Fusco N, Malapelle U, Fassan M, Marchiò C,
Buglioni S, Zupo S, Criscitiello C, Vigneri P, Dei Tos AP, Maiorano
E and Viale G: PIK3CA mutations as a molecular target for hormone
receptor-positive, HER2-negative metastatic breast cancer. Front
Oncol. 11(644737)2021.PubMed/NCBI View Article : Google Scholar
|
