{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:41:41Z","timestamp":1768322501739,"version":"3.49.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T00:00:00Z","timestamp":1524700800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Central University of Punjab"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Med Oncol"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1007\/s12032-018-1143-2","type":"journal-article","created":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T09:56:26Z","timestamp":1524736586000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients"],"prefix":"10.1007","volume":"35","author":[{"given":"Raman Preet","family":"Kaur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gowhar","family":"Shafi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raja Paramjeet Singh","family":"Benipal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7657-8592","authenticated-orcid":false,"given":"Anjana","family":"Munshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,4,26]]},"reference":[{"issue":"3","key":"1143_CR1","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.molonc.2010.04.011","volume":"4","author":"N Mavaddat","year":"2010","unstructured":"Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol. 2010;4(3):174\u201391.","journal-title":"Mol Oncol"},{"issue":"2","key":"1143_CR2","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1399-0004.2012.01859.x","volume":"82","author":"F Lalloo","year":"2012","unstructured":"Lalloo F, Evans DG. Familial breast cancer. Clin Genet. 2012;82(2):105\u201314.","journal-title":"Clin Genet"},{"key":"1143_CR3","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/1471-2350-7-75","volume":"4","author":"S Saxena","year":"2006","unstructured":"Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, Mohil RS. Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet. 2006;4:75.","journal-title":"BMC Med Genet"},{"key":"1143_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.4137\/CMO.S13410","volume":"8","author":"E Blaurock-Busch","year":"2014","unstructured":"Blaurock-Busch E, Busch YM, Friedle A, Buerner H, Parkash C, Kaur A. Comparing the metal concentration in the hair of cancer patients and healthy people living in the Malwa region of Punjab, India. Clin Med Insights Oncol. 2014;8:1.","journal-title":"Clin Med Insights Oncol"},{"issue":"5","key":"1143_CR5","doi-asserted-by":"publisher","first-page":"399","DOI":"10.3390\/ijerph5050399","volume":"5","author":"J Thakur","year":"2008","unstructured":"Thakur J, Rao B, Rajwanshi A, Parwana H, Kumar R. Epidemiological study of high cancer among rural agricultural community of Punjab in Northern India. Int J Environ Res Public Health. 2008;5(5):399\u2013407.","journal-title":"Int J Environ Res Public Health"},{"issue":"1","key":"1143_CR6","first-page":"56","volume":"8","author":"I Ali","year":"2011","unstructured":"Ali I, Wani WA, Saleem K. Cancer scenario in India with future perspectives. Cancer Ther. 2011;8(1):56\u201370.","journal-title":"Cancer Ther"},{"key":"1143_CR7","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1016\/j.scitotenv.2013.06.066","volume":"463","author":"J Bedi","year":"2013","unstructured":"Bedi J, Gill J, Aulakh R, Kaur P, Sharma A, Pooni P. Pesticide residues in human breast milk: risk assessment for infants from Punjab, India. Sci Total Environ. 2013;463:720\u201326.","journal-title":"Sci Total Environ"},{"issue":"1","key":"1143_CR8","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/1471-2350-14-61","volume":"14","author":"D Berzina","year":"2013","unstructured":"Berzina D, Nakazawa-Miklasevica M, Zestkova J, Aksenoka K, Irmejs A, Gardovskis A, Kalniete D, Gardovskis J, Miklasevics E. BRCA1\/2 mutation screening in high-risk breast\/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families. BMC Med Genet. 2013;14(1):61.","journal-title":"BMC Med Genet"},{"issue":"6","key":"1143_CR9","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/ejhg.2008.212","volume":"17","author":"T Ripperger","year":"2009","unstructured":"Ripperger T, Gadzicki D, Meindl A, Schlegelberger B. Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet. 2009;17(6):722\u201331.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"1143_CR10","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1038\/sj.bjc.6603535","volume":"96","author":"E Levy-Lahad","year":"2007","unstructured":"Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007;96(1):11\u20135.","journal-title":"Br J Cancer"},{"issue":"3","key":"1143_CR11","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1007\/s12032-018-1085-8","volume":"35","author":"A Shailani","year":"2018","unstructured":"Shailani A, Kaur RP, Munshi A. A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors. Med Oncol. 2018;35(3):18.","journal-title":"Med Oncol"},{"issue":"3","key":"1143_CR12","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s12038-009-0048-9","volume":"34","author":"K Vaidyanathan","year":"2009","unstructured":"Vaidyanathan K, Lakhotia S, Ravishankar HM, Tabassum U, Mukherjee G, Somasundaram K. BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation. J Biosci. 2009;34(3):415\u201322.","journal-title":"J Biosci"},{"issue":"4","key":"1143_CR13","doi-asserted-by":"publisher","first-page":"357","DOI":"10.4048\/jbc.2013.16.4.357","volume":"16","author":"H Kim","year":"2013","unstructured":"Kim H, Choi DH. Distribution of BRCA1 and BRCA2 mutations in Asian patients with breast cancer. J Breast Cancer. 2013;16(4):357\u201365.","journal-title":"J Breast Cancer"},{"issue":"1\u20132","key":"1143_CR14","doi-asserted-by":"publisher","first-page":"25","DOI":"10.3233\/BD-2010-0306","volume":"32","author":"BN Peshkin","year":"2011","unstructured":"Peshkin BN, Alabek ML, Isaacs C. BRCA1\/2 mutations and triple negative breast cancers. Breast Dis. 2011;32(1\u20132):25\u201333.","journal-title":"Breast Dis"},{"issue":"5","key":"1143_CR15","doi-asserted-by":"publisher","first-page":"e38361","DOI":"10.1371\/journal.pone.0038361","volume":"7","author":"P Meyer","year":"2012","unstructured":"Meyer P, Landgraf K, H\u00f6gel B, Eiermann W, Ataseven B. BRCA2 mutations and triple-negative breast cancer. PLoS ONE. 2012;7(5):e38361.","journal-title":"PLoS ONE"},{"issue":"1","key":"1143_CR16","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1002\/cncr.29010","volume":"121","author":"N Tung","year":"2015","unstructured":"Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121(1):25\u201333.","journal-title":"Cancer"},{"key":"1143_CR17","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.4161\/cc.10.8.15273","volume":"10","author":"KJ Dedes","year":"2011","unstructured":"Dedes KJ, Wilkerson PM, Wetterskog D, Weigelt B, Ashworth A, Reis-Filho JS. Synthetic lethality of PARP inhibition in cancers lacking BRCA1 and BRCA2 mutations. Cell Cycle. 2011;10:1192\u20139.","journal-title":"Cell Cycle"},{"issue":"8","key":"1143_CR18","doi-asserted-by":"publisher","first-page":"1989","DOI":"10.1002\/cncr.26506","volume":"118","author":"G Rennert","year":"2012","unstructured":"Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O. MutYH mutation carriers have increased breast cancer risk. Cancer. 2012;118(8):1989\u201393.","journal-title":"Cancer"},{"issue":"6","key":"1143_CR19","doi-asserted-by":"publisher","first-page":"1976","DOI":"10.1053\/j.gastro.2009.08.052","volume":"137","author":"S Vogt","year":"2009","unstructured":"Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976\u201385.","journal-title":"Gastroenterology"},{"issue":"3","key":"1143_CR20","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s10549-010-0801-7","volume":"124","author":"M Wasielewski","year":"2010","unstructured":"Wasielewski M, Out AA, Vermeulen J, Nielsen M, van den Ouweland A, Tops CM, Wijnen JT, Vasen HF, Weiss MM, Klijn JG, Devilee P. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Breast Cancer Res Treat. 2010;124(3):635\u201341.","journal-title":"Breast Cancer Res Treat"},{"issue":"3","key":"1143_CR21","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/j.lungcan.2010.10.009","volume":"72","author":"YL Lo","year":"2011","unstructured":"Lo YL, Hsiao CF, Jou YS, Chang GC, Tsai YH, Su WC, Chen KY, Chen YM, Huang MS, Hsieh WS, Chen CJ. Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers. Lung Cancer. 2011;72(3):280\u20136.","journal-title":"Lung Cancer"},{"issue":"8","key":"1143_CR22","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1136\/jmedgenet-2015-103216","volume":"52","author":"EF Harkness","year":"2015","unstructured":"Harkness EF, Barrow E, Newton K, Green K, Clancy T, Lalloo F, Hill J, Evans DG. Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study. J Med Genet. 2015;52(8):553\u20136.","journal-title":"J Med Genet"},{"issue":"28","key":"1143_CR23","doi-asserted-by":"publisher","first-page":"3747","DOI":"10.1200\/JCO.2010.34.0778","volume":"29","author":"C Cybulski","year":"2011","unstructured":"Cybulski C, Woko\u0142orczyk D, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Masoj\u0107 B, D\u0119bniak T, G\u00f3rski B, Blecharz P, Narod SA. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol. 2011;29(28):3747\u201352.","journal-title":"J Clin Oncol"},{"issue":"11","key":"1143_CR24","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/jnci\/dji141","volume":"97","author":"D Thompson","year":"2005","unstructured":"Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005;97(11):813\u201322.","journal-title":"J Natl Cancer Inst"},{"key":"1143_CR25","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1200\/JCO.2007.12.5922","volume":"26","author":"M Weischer","year":"2008","unstructured":"Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008;26:542\u20138.","journal-title":"J Clin Oncol"},{"issue":"6","key":"1143_CR26","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1002\/mgg3.98","volume":"2","author":"MJ Podralska","year":"2014","unstructured":"Podralska MJ, Stembalska A, \u015al\u0119zak R, Lewandowicz-Uszy\u0144ska A, Pietrucha B, Ko\u0142tan S, Wigowska-Sowi\u0144ska J, Pilch J, Mosor M, Zi\u00f3\u0142kowska-Suchanek I, Dzikiewicz-Krawczyk A. Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Mol Genet Genomic Med. 2014;2(6):504\u201311.","journal-title":"Mol Genet Genomic Med"},{"key":"1143_CR27","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00580-017-2455-x","volume":"26","author":"M Jalilvand","year":"2017","unstructured":"Jalilvand M, Oloomi M, Najafipour R, Alizadeh SA, Saki N, Rad FS, Shekari M. An association study between CHEK2 gene mutations and susceptibility to breast cancer. Comp Clin Pathol. 2017;26:1\u20139.","journal-title":"Comp Clin Pathol"},{"key":"1143_CR28","first-page":"331","volume":"9","author":"P Apostolou","year":"2017","unstructured":"Apostolou P, Papasotiriou I. Current perspectives on CHEK2 mutations in breast cancer. Breast Cancer: Targets Ther. 2017;9:331.","journal-title":"Breast Cancer: Targets Ther"},{"issue":"2","key":"1143_CR29","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/S0955-2863(98)00074-6","volume":"10","author":"YI Kim","year":"1999","unstructured":"Kim YI. Folate and carcinogenesis: evidence, mechanisms, and implications. J Nutr Biochem. 1999;10(2):66\u201388.","journal-title":"J Nutr Biochem"},{"issue":"1","key":"1143_CR30","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0065-2571(99)00037-0","volume":"40","author":"JB Mason","year":"2000","unstructured":"Mason JB, Choi SW. Folate and carcinogenesis: developing a unifying hypothesis. Adv Enzyme Regul. 2000;40(1):127\u201341.","journal-title":"Adv Enzyme Regul"},{"key":"1143_CR31","doi-asserted-by":"crossref","unstructured":"Ma LM, Ruan LH, Yang HP. Meta-analysis of the association of MTHFR polymorphisms with multiple myeloma risk. Sci Rep 2015; 5.","DOI":"10.1038\/srep10735"},{"issue":"1","key":"1143_CR32","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/j.mrfmmm.2005.05.012","volume":"578","author":"S Beetstra","year":"2005","unstructured":"Beetstra S, Thomas P, Salisbury C, Turner J, Fenech M. Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei. Mutat Res. 2005;578(1):317 \u2013 26.","journal-title":"Mutat Res"},{"issue":"6","key":"1143_CR33","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1159\/000076460","volume":"24","author":"E Ergul","year":"2003","unstructured":"Ergul E, Sazci A, Utkan Z, Canturk NZ. Polymorphisms in the MTHFR gene are associated with breast cancer. Tumor Biol. 2003;24(6):286 \u2013 90.","journal-title":"Tumor Biol"},{"issue":"4","key":"1143_CR34","first-page":"972","volume":"62","author":"DJ Tan","year":"2002","unstructured":"Tan DJ, Bai RK, Wong LJ. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res. 2002;62(4):972\u20136.","journal-title":"Cancer Res"},{"issue":"1","key":"1143_CR35","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1093\/carcin\/bgh282","volume":"26","author":"W Zhu","year":"2005","unstructured":"Zhu W, Qin W, Bradley P, Wessel A, Puckett CL, Sauter ER. Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid. Carcinogenesis. 2005;26(1):145\u201352.","journal-title":"Carcinogenesis"},{"issue":"1","key":"1143_CR36","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1007\/s10549-011-1403-8","volume":"131","author":"M Ratajska","year":"2012","unstructured":"Ratajska M, Antoszewska E, Piskorz A, Brozek I, Borg \u00c5, Kusmierek H, Biernat W, Limon J. Cancer predisposing BARD1 mutations in breast\u2013ovarian cancer families. Breast Cancer Res Treat. 2012;131(1):89\u201397.","journal-title":"Breast Cancer Res Treat"},{"key":"1143_CR37","doi-asserted-by":"crossref","unstructured":"Klonowska K, Ratajska M, Czubak K, Kuzniacka A, Brozek I, Koczkowska M, Sniadecki M, Debniak J, Wydra D, Balut M, Stukan M. Analysis of large mutations in BARD1 in patients with breast and\/or ovarian cancer: the Polish population as an example. Sci Rep. 2015; 5.","DOI":"10.1038\/srep10424"},{"issue":"7678","key":"1143_CR38","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/nature24284","volume":"551","author":"K Michailidou","year":"2017","unstructured":"Michailidou K, Lindstr\u00f6m S, Dennis J, Beesley J, Hui S, Kar S, Lema\u00e7on A, Soucy P, Glubb D, Rostamianfar A, Bolla MK. Association analysis identifies 65 new breast cancer risk loci. Nature. 2017;551(7678):92\u20134.","journal-title":"Nature"}],"container-title":["Medical Oncology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12032-018-1143-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12032-018-1143-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12032-018-1143-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,25]],"date-time":"2019-04-25T19:32:01Z","timestamp":1556220721000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12032-018-1143-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,26]]},"references-count":38,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["1143"],"URL":"https:\/\/doi.org\/10.1007\/s12032-018-1143-2","relation":{},"ISSN":["1357-0560","1559-131X"],"issn-type":[{"value":"1357-0560","type":"print"},{"value":"1559-131X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,26]]},"assertion":[{"value":"5 April 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 April 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors do not hold any conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was carried out only after the ethical clearance by Institutional Ethics Committee (IES) of CUPB and the study hospital.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The samples and information were collected from the participants only after their written informed consent.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}],"article-number":"81"}}