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Volumn 61, Issue 6, 2016, Pages 515-522

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: Implications of embracing a multi-gene panel in molecular diagnosis in India

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; COHORT ANALYSIS; COMPUTER PROGRAM; EARLY CANCER DIAGNOSIS; FAMILY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIATION; GROUPS BY AGE; HUMAN; INDIA; MAJOR CLINICAL STUDY; MIDDLE AGED; MOLECULAR DIAGNOSIS; MULTIGENE FAMILY; NEXT GENERATION SEQUENCING; OVARY CANCER; SEQUENCE ANALYSIS; SEQUENTIAL ANALYSIS; TUMOR GENE; AGED; BREAST NEOPLASMS; COPY NUMBER VARIATION; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; GENETICS; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HIGH THROUGHPUT SEQUENCING; MUTATION; MUTATION RATE; ONSET AGE; OVARIAN NEOPLASMS; PREVALENCE; PROCEDURES; TUMOR SUPPRESSOR GENE; YOUNG ADULT;

EID: 84976556872     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.4     Document Type: Article
Times cited : (64)

References (43)
  • 2
    • 84918815964 scopus 로고    scopus 로고
    • Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012
    • Ferlay, J., Soerjomataram, I., Dikshit, R., Eser, S., Mathers, C., Rebelo, M. et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int. J. Cancer 136, E359-E386 (2015).
    • (2015) Int. J. Cancer , vol.136 , pp. E359-E386
    • Ferlay, J.1    Soerjomataram, I.2    Dikshit, R.3    Eser, S.4    Mathers, C.5    Rebelo, M.6
  • 5
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789-792 (1995).
    • (1995) Nature , vol.378 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3    Swift, S.4    Seal, S.5    Mangion, J.6
  • 6
    • 79960330300 scopus 로고    scopus 로고
    • Hereditary breast and ovarian cancer: New genes, new treatments, new concepts
    • Meindl, A., Ditsch, N., Kast, K., Rhiem, K. & Schmutzler, R. K. Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch. Arztebl. Int. 108, 323-330 (2011).
    • (2011) Dtsch. Arztebl. Int. , vol.108 , pp. 323-330
    • Meindl, A.1    Ditsch, N.2    Kast, K.3    Rhiem, K.4    Schmutzler, R.K.5
  • 7
    • 0027977943 scopus 로고
    • E-cadherin gene mutations provide clues to diffuse type gastric carcinomas
    • Becker, K. F., Atkinson, M. J., Reich, U., Becker, I., Nekarda, H., Siewert, J. R. et al. E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res. 54, 3845-3852 (1994).
    • (1994) Cancer Res , vol.54 , pp. 3845-3852
    • Becker, K.F.1    Atkinson, M.J.2    Reich, U.3    Becker, I.4    Nekarda, H.5    Siewert, J.R.6
  • 8
    • 0031004088 scopus 로고    scopus 로고
    • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    • Liaw, D., Marsh, D. J., Li, J., Dahia, P. L., Wang, S. I., Zheng, Z. et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat. Genet. 16, 64-67 (1997).
    • (1997) Nat. Genet. , vol.16 , pp. 64-67
    • Liaw, D.1    Marsh, D.J.2    Li, J.3    Dahia, P.L.4    Wang, S.I.5    Zheng, Z.6
  • 9
    • 0032495530 scopus 로고    scopus 로고
    • A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
    • Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A. et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391, 184-187 (1998).
    • (1998) Nature , vol.391 , pp. 184-187
    • Hemminki, A.1    Markie, D.2    Tomlinson, I.3    Avizienyte, E.4    Roth, S.5    Loukola, A.6
  • 10
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    • Malkin, D., Li, F. P., Strong, L. C., Fraumeni, J. F., Nelson, C. E., Kim, D. H. et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250, 1233-1238 (1990).
    • (1990) Science , vol.250 , pp. 1233-1238
    • Malkin, D.1    Li, F.P.2    Strong, L.C.3    Fraumeni, J.F.4    Nelson, C.E.5    Kim, D.H.6
  • 12
    • 20644461718 scopus 로고    scopus 로고
    • BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function
    • Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S. et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105, 149-160 (2001).
    • (2001) Cell , vol.105 , pp. 149-160
    • Cantor, S.B.1    Bell, D.W.2    Ganesan, S.3    Kass, E.M.4    Drapkin, R.5    Grossman, S.6
  • 13
    • 18544389716 scopus 로고    scopus 로고
    • Low-penetrance susceptibility to breast cancer due to CHEK2() 1100delC in noncarriers of BRCA1 or BRCA2 mutations
    • Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., Wasielewski, M., de Snoo, A., Oldenburg, R. et al. Low-penetrance susceptibility to breast cancer due to CHEK2() 1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat. Genet. 31, 55-59 (2002).
    • (2002) Nat. Genet. , vol.31 , pp. 55-59
    • Meijers-Heijboer, H.1    Van Den Ouweland, A.2    Klijn, J.3    Wasielewski, M.4    De Snoo, A.5    Oldenburg, R.6
  • 15
    • 33747884830 scopus 로고    scopus 로고
    • RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
    • Heikkinen, K., Rapakko, K., Karppinen, S.-M., Erkko, H., Knuutila, S., Lundán, T. et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 27, 1593-1599 (2006).
    • (2006) Carcinogenesis , vol.27 , pp. 1593-1599
    • Heikkinen, K.1    Rapakko, K.2    Karppinen, S.-M.3    Erkko, H.4    Knuutila, S.5    Lundán, T.6
  • 16
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A. et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 39, 165-167 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 165-167
    • Rahman, N.1    Seal, S.2    Thompson, D.3    Kelly, P.4    Renwick, A.5    Elliott, A.6
  • 17
    • 77951720395 scopus 로고    scopus 로고
    • Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    • Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D. et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat. Genet. 42, 410-414 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 410-414
    • Meindl, A.1    Hellebrand, H.2    Wiek, C.3    Erven, V.4    Wappenschmidt, B.5    Niederacher, D.6
  • 18
    • 2942625429 scopus 로고    scopus 로고
    • The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
    • Rodríguez-López, R., Osorio, A., Ribas, G., Pollán, M., Sánchez-Pulido, L., de la Hoya, M. et al. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int. J. Cancer 110, 845-849 (2004).
    • (2004) Int. J. Cancer , vol.110 , pp. 845-849
    • Rodríguez-López, R.1    Osorio, A.2    Ribas, G.3    Pollán, M.4    Sánchez-Pulido, L.5    De La Hoya, M.6
  • 19
    • 73449143225 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: Identification of four novel mutations and high-frequency occurrence of 185delAG mutation
    • Vaidyanathan, K., Lakhotia, S., Ravishankar, H. M., 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. 34, 415-422 (2009).
    • (2009) J. Biosci. , vol.34 , pp. 415-422
    • Vaidyanathan, K.1    Lakhotia, S.2    Ravishankar, H.M.3    Tabassum, U.4    Mukherjee, G.5    Somasundaram, K.6
  • 20
    • 1442329632 scopus 로고    scopus 로고
    • Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families
    • Valarmathi, M. T., Sawhney, M., Deo, S. S. V, Shukla, N. K. & Das, S. N. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. Hum. Mutat. 23, 205 (2004).
    • (2004) Hum. Mutat. , vol.23 , pp. 205
    • Valarmathi, M.T.1    Sawhney, M.2    Deo, S.S.V.3    Shukla, N.K.4    Das, S.N.5
  • 21
    • 0642340839 scopus 로고    scopus 로고
    • BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India
    • Rajkumar, T., Soumittra, N., Nancy, N. K., Swaminathan, R., Sridevi, V. & Shanta, V. BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac. J. Cancer Prev. 4, 203-208 (2003).
    • (2003) Asian Pac. J. Cancer Prev. , vol.4 , pp. 203-208
    • Rajkumar, T.1    Soumittra, N.2    Nancy, N.K.3    Swaminathan, R.4    Sridevi, V.5    Shanta, V.6
  • 22
    • 84874104566 scopus 로고    scopus 로고
    • Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India
    • Hansa, J., Kannan, R. & Ghosh, S. K. Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India. Asian Pac. J. Cancer Prev. 13, 5871-5874 (2012).
    • (2012) Asian Pac. J. Cancer Prev. , vol.13 , pp. 5871-5874
    • Hansa, J.1    Kannan, R.2    Ghosh, S.K.3
  • 23
    • 16644377263 scopus 로고    scopus 로고
    • Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India
    • Hedau, S., Jain, N., Husain, S. A, Mandal, A. K., Ray, G., Shahid, M. et al. Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res. Treat. 88, 177-186 (2004).
    • (2004) Breast Cancer Res. Treat. , vol.88 , pp. 177-186
    • Hedau, S.1    Jain, N.2    Husain, S.A.3    Mandal, A.K.4    Ray, G.5    Shahid, M.6
  • 25
    • 33750591960 scopus 로고    scopus 로고
    • Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
    • Saxena, S., Chakraborty, A., Kaushal, M., Kotwal, S., Bhatanager, D., Mohil, R. S. et al. Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med. Genet. 7, 75 (2006).
    • (2006) BMC Med. Genet. , vol.7 , pp. 75
    • Saxena, S.1    Chakraborty, A.2    Kaushal, M.3    Kotwal, S.4    Bhatanager, D.5    Mohil, R.S.6
  • 26
    • 84939445966 scopus 로고    scopus 로고
    • Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers
    • Rajkumar, T., Meenakumari, B., Mani, S., Sridevi, V. & Sundersingh, S. Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers. Asian Pac. J. Cancer Prev. 16, 5211-5217 (2015).
    • (2015) Asian Pac. J. Cancer Prev. , vol.16 , pp. 5211-5217
    • Rajkumar, T.1    Meenakumari, B.2    Mani, S.3    Sridevi, V.4    Sundersingh, S.5
  • 27
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • Richards, C. S., Bale, S., Bellissimo, D. B., Das, S., Grody, W. W., Hegde, M. R. et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet. Med. 10, 294-300 (2008).
    • (2008) Genet. Med. , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3    Das, S.4    Grody, W.W.5    Hegde, M.R.6
  • 28
    • 84888119068 scopus 로고    scopus 로고
    • Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing
    • Chan, K. C. A., Jiang, P., Chan, C. W. M., Sun, K., Wong, J., Hui, E. P. et al. Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing. Proc. Natl Acad. Sci. USA 110, 18761-18768 (2013).
    • (2013) Proc. Natl Acad. Sci. USA , vol.110 , pp. 18761-18768
    • Chan, K.C.A.1    Jiang, P.2    Chan, C.W.M.3    Sun, K.4    Wong, J.5    Hui, E.P.6
  • 29
    • 0030305457 scopus 로고    scopus 로고
    • A language for data analysis and graphics
    • Ihaka, R. & Gentleman, R. R: A language for data analysis and graphics. J. Comput. Graph. Stat. 5, 299-314 (1996).
    • (1996) J. Comput. Graph. Stat. , vol.5 , pp. 299-314
    • Ihaka, R.1    Gentleman, R.R.2
  • 30
    • 0029083814 scopus 로고
    • The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    • Struewing, J. P., Abeliovich, D., Peretz, T., Avishai, N., Kaback, M. M., Collins, F. S. et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat. Genet. 11, 198-200 (1995).
    • (1995) Nat. Genet. , vol.11 , pp. 198-200
    • Struewing, J.P.1    Abeliovich, D.2    Peretz, T.3    Avishai, N.4    Kaback, M.M.5    Collins, F.S.6
  • 31
    • 84918798338 scopus 로고    scopus 로고
    • Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel
    • Tung, N., Battelli, C., Allen, B., Kaldate, R., Bhatnagar, S., Bowles, K. et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121, 25-33 (2015).
    • (2015) Cancer , vol.121 , pp. 25-33
    • Tung, N.1    Battelli, C.2    Allen, B.3    Kaldate, R.4    Bhatnagar, S.5    Bowles, K.6
  • 32
    • 84952642532 scopus 로고    scopus 로고
    • A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 Patients
    • Lincoln, S. E., Kobayashi, Y., Anderson, M. J., Yang, S., Desmond, A. J., Mills, M. A. et al. A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 Patients. J. Mol. Diagn. 17, 533-544 (2015).
    • (2015) J. Mol. Diagn. , vol.17 , pp. 533-544
    • Lincoln, S.E.1    Kobayashi, Y.2    Anderson, M.J.3    Yang, S.4    Desmond, A.J.5    Mills, M.A.6
  • 33
    • 84908502657 scopus 로고    scopus 로고
    • Nextgeneration sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
    • Castéra, L., Krieger, S., Rousselin, A., Legros, A., Baumann, J.-J., Bruet, O. et al. Nextgeneration sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur. J. Hum. Genet. 22, 1305-1313 (2014).
    • (2014) Eur. J. Hum. Genet. , vol.22 , pp. 1305-1313
    • Castéra, L.1    Krieger, S.2    Rousselin, A.3    Legros, A.4    Baumann, J.-J.5    Bruet, O.6
  • 35
    • 84904750123 scopus 로고    scopus 로고
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
    • Kurian, A. W., Hare, E. E., Mills, M. A., Kingham, K. E., McPherson, L., Whittemore, A. S. et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J. Clin. Oncol. 32, 2001-2009 (2014).
    • (2014) J. Clin. Oncol. , vol.32 , pp. 2001-2009
    • Kurian, A.W.1    Hare, E.E.2    Mills, M.A.3    Kingham, K.E.4    McPherson, L.5    Whittemore, A.S.6
  • 36
    • 84965090778 scopus 로고    scopus 로고
    • Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment
    • 02114
    • Desmond, A., Kurian, A. W., Gabree, M., Mills, M. A., Anderson, M. J., Kobayashi, Y. et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol. 02114, 1-9 (2015).
    • (2015) JAMA Oncol. , pp. 1-9
    • Desmond, A.1    Kurian, A.W.2    Gabree, M.3    Mills, M.A.4    Anderson, M.J.5    Kobayashi, Y.6
  • 37
    • 84892566869 scopus 로고    scopus 로고
    • Distribution of BRCA1 and BRCA2 mutations in asian patients with breast cancer
    • Kim, H. & Choi, D. H. Distribution of BRCA1 and BRCA2 mutations in asian patients with breast cancer. J. Breast Cancer 16, 357-365 (2013).
    • (2013) J. Breast Cancer , vol.16 , pp. 357-365
    • Kim, H.1    Choi, D.H.2
  • 38
    • 84888986609 scopus 로고    scopus 로고
    • A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer
    • Karami, F. & Mehdipour, P. A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. Biomed Res. Int. 2013, 928562 (2013).
    • (2013) Biomed Res. Int. , vol.2013 , pp. 928562
    • Karami, F.1    Mehdipour, P.2
  • 40
    • 84961291803 scopus 로고    scopus 로고
    • Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
    • Feng, Y., Chen, D., Wang, G.-L., Zhang, V. W. & Wong, L.-J. C. Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing. Genet. Med. 17, 99-107 (2015).
    • (2015) Genet. Med. , vol.17 , pp. 99-107
    • Feng, Y.1    Chen, D.2    Wang, G.-L.3    Zhang, V.W.4    Wong, L.-J.C.5
  • 42
    • 84899995183 scopus 로고    scopus 로고
    • NCRP (National Cancer Registry Programme). (Indian Council of Medical Research, Bangalore
    • NCRP (National Cancer Registry Programme). Time Trends in Cancer Incidence Rates 1982-2010. (Indian Council of Medical Research, Bangalore, 2013).
    • (2013) Time Trends in Cancer Incidence Rates 1982-2010
  • 43
    • 84925450175 scopus 로고    scopus 로고
    • Global surveillance of cancer survival 1995-2009: Analysis of individual data for 25 676 887 patients from 279 population-based registries in 67 countries (CONCORD-2)
    • Allemani, C., Weir, H. K., Carreira, H., Harewood, R., Spika, D., Wang, X.-S. et al. Global surveillance of cancer survival 1995-2009: analysis of individual data for 25 676 887 patients from 279 population-based registries in 67 countries (CONCORD-2). Lancet 385, 977-1010 (2014).
    • (2014) Lancet , vol.385 , pp. 977-1010
    • Allemani, C.1    Weir, H.K.2    Carreira, H.3    Harewood, R.4    Spika, D.5    Wang, X.-S.6


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