Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer

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Zurück zum Zitat Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjörd JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinski M, Jäger N, Jones DT, Jones D, Knappskog S, Kool M, Lakhani SR, López-Otín C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdés-Mas R, van Buuren MM, van ‘t Veer L, Vincent-Salomon A, Waddell N, Yates LR, Australian Pancreatic Cancer Genome Initiative, ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium; ICGC PedBrain, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR (2013) Signatures of mutational processes in human cancer. Nature 500(7463):415–421 Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjörd JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinski M, Jäger N, Jones DT, Jones D, Knappskog S, Kool M, Lakhani SR, López-Otín C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdés-Mas R, van Buuren MM, van ‘t Veer L, Vincent-Salomon A, Waddell N, Yates LR, Australian Pancreatic Cancer Genome Initiative, ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium; ICGC PedBrain, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR (2013) Signatures of mutational processes in human cancer. Nature 500(7463):415–421

Zurück zum Zitat Burns MB, Lackey L, Carpenter MA, Rathore A, Land AM, Leonard B, Refsland EW, Kotandeniya D, Tretyakova N, Nikas JB, Yee D, Temiz NA, Donohue DE, McDougle RM, Brown WL, Law EK, Harris RS (2013) APOBEC3B is an enzymatic source of mutation in breast cancer. Nature 494(7437):366–370CrossRefPubMedPubMedCentral Burns MB, Lackey L, Carpenter MA, Rathore A, Land AM, Leonard B, Refsland EW, Kotandeniya D, Tretyakova N, Nikas JB, Yee D, Temiz NA, Donohue DE, McDougle RM, Brown WL, Law EK, Harris RS (2013) APOBEC3B is an enzymatic source of mutation in breast cancer. Nature 494(7437):366–370CrossRefPubMedPubMedCentral

Zurück zum Zitat Kanu N, Cerone MA, Goh G, Zalmas LP, Bartkova J, Dietzen M, McGranahan N, Rogers R, Law EK, Gromova I, Kschischo M, Walton MI, Rossanese OW, Bartek J, Harris RS, Venkatesan S, Swanton C (2016) DNA replication stress mediates APOBEC3 family mutagenesis in breast cancer. Genome Biol 17(1):185CrossRefPubMedPubMedCentral Kanu N, Cerone MA, Goh G, Zalmas LP, Bartkova J, Dietzen M, McGranahan N, Rogers R, Law EK, Gromova I, Kschischo M, Walton MI, Rossanese OW, Bartek J, Harris RS, Venkatesan S, Swanton C (2016) DNA replication stress mediates APOBEC3 family mutagenesis in breast cancer. Genome Biol 17(1):185CrossRefPubMedPubMedCentral

Zurück zum Zitat Periyasamy M, Patel H, Lai CF, Nguyen VT, Nevedomskaya E, Harrod A, Russell R, Remenyi J, Ochocka AM, Thomas RS, Fuller-Pace F, Győrffy B, Caldas C, Navaratnam N, Carroll JS, Zwart W, Coombes RC, Magnani L, Buluwela L, Ali S (2015) APOBEC3B-mediated cytidine deamination is required for estrogen receptor action in breast cancer. Cell Rep 13(1):108–121CrossRefPubMedPubMedCentral Periyasamy M, Patel H, Lai CF, Nguyen VT, Nevedomskaya E, Harrod A, Russell R, Remenyi J, Ochocka AM, Thomas RS, Fuller-Pace F, Győrffy B, Caldas C, Navaratnam N, Carroll JS, Zwart W, Coombes RC, Magnani L, Buluwela L, Ali S (2015) APOBEC3B-mediated cytidine deamination is required for estrogen receptor action in breast cancer. Cell Rep 13(1):108–121CrossRefPubMedPubMedCentral

Zurück zum Zitat Long J, Delahanty RJ, Li G, Gao YT, Lu W, Cai Q, Xiang YB, Li C, Ji BT, Zheng Y, Ali S, Shu XO, Zheng W (2013) A common deletion in the APOBEC3 genes and breast cancer risk. J Natl Cancer Inst 105:573–579CrossRefPubMedPubMedCentral Long J, Delahanty RJ, Li G, Gao YT, Lu W, Cai Q, Xiang YB, Li C, Ji BT, Zheng Y, Ali S, Shu XO, Zheng W (2013) A common deletion in the APOBEC3 genes and breast cancer risk. J Natl Cancer Inst 105:573–579CrossRefPubMedPubMedCentral

Zurück zum Zitat Xuan D, Li G, Cai Q, Deming-Halverson S, Shrubsole MJ, Shu XO, Kelley MC, Zheng W, Long J (2013) APOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry. Carcinogenesis 34:2240–2243CrossRefPubMedPubMedCentral Xuan D, Li G, Cai Q, Deming-Halverson S, Shrubsole MJ, Shu XO, Kelley MC, Zheng W, Long J (2013) APOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry. Carcinogenesis 34:2240–2243CrossRefPubMedPubMedCentral

Zurück zum Zitat Cescon DW, Haibe-Kains B, Mak TW (2015) APOBEC3B expression in breast cancer reflects cellular proliferation, while a deletion polymorphism is associated with immune activation. Proc Natl Acad Sci USA 112(9):2841–2846CrossRefPubMedPubMedCentral Cescon DW, Haibe-Kains B, Mak TW (2015) APOBEC3B expression in breast cancer reflects cellular proliferation, while a deletion polymorphism is associated with immune activation. Proc Natl Acad Sci USA 112(9):2841–2846CrossRefPubMedPubMedCentral

Zurück zum Zitat Wen WX, Soo JS, Kwan PY, Hong E, Khang TF, Mariapun S, Lee CS, Hasan SN, Rajadurai P, Yip CH, Mohd Taib NA, Teo SH (2016) Germline APOBEC3B deletion is associated with breast cancer risk in an Asian multi-ethnic cohort and with immune cell presentation. Breast Cancer Res 27 18(1):56 Wen WX, Soo JS, Kwan PY, Hong E, Khang TF, Mariapun S, Lee CS, Hasan SN, Rajadurai P, Yip CH, Mohd Taib NA, Teo SH (2016) Germline APOBEC3B deletion is associated with breast cancer risk in an Asian multi-ethnic cohort and with immune cell presentation. Breast Cancer Res 27 18(1):56

Zurück zum Zitat Caval V, Bouzidi MS, Suspène R, Laude H, Dumargne MC, Bashamboo A, Krey T, Vartanian JP, Wain-Hobson S (2015) Molecular basis of the attenuated phenotype of human APOBEC3B DNA mutator enzyme. Nucleic Acids Res 43(19):9340–9349CrossRefPubMedPubMedCentral Caval V, Bouzidi MS, Suspène R, Laude H, Dumargne MC, Bashamboo A, Krey T, Vartanian JP, Wain-Hobson S (2015) Molecular basis of the attenuated phenotype of human APOBEC3B DNA mutator enzyme. Nucleic Acids Res 43(19):9340–9349CrossRefPubMedPubMedCentral

Zurück zum Zitat Caval V, Suspène R, Shapira M, Vartanian JP, Wain-Hobson S (2014) A prevalent cancer susceptibility APOBEC3A hybrid allele bearing APOBEC3B 3’UTR enhances chromosomal DNA damage. Nat Commun. 9(5):5129CrossRef Caval V, Suspène R, Shapira M, Vartanian JP, Wain-Hobson S (2014) A prevalent cancer susceptibility APOBEC3A hybrid allele bearing APOBEC3B 3’UTR enhances chromosomal DNA damage. Nat Commun. 9(5):5129CrossRef

Zurück zum Zitat Harris RS (2015) Molecular mechanism and clinical impact of APOBEC3B-catalyzed mutagenesis in breast cancer. Breast Cancer Res 17:8CrossRefPubMedPubMedCentral Harris RS (2015) Molecular mechanism and clinical impact of APOBEC3B-catalyzed mutagenesis in breast cancer. Breast Cancer Res 17:8CrossRefPubMedPubMedCentral

Zurück zum Zitat Land AM, Wang J, Law EK, Aberle R, Kirmaier A, Krupp A, Johnson WE, Harris RS (2015) Degradation of the cancer genomic DNA deaminase APOBEC3B by SIV Vif. Oncotarget 6(37):39969–39979PubMedPubMedCentral Land AM, Wang J, Law EK, Aberle R, Kirmaier A, Krupp A, Johnson WE, Harris RS (2015) Degradation of the cancer genomic DNA deaminase APOBEC3B by SIV Vif. Oncotarget 6(37):39969–39979PubMedPubMedCentral

Zurück zum Zitat Bogdanova N, Cybulski C, Bermisheva M, Datsyuk I, Yamini P, Hillemanns P, Antonenkova NN, Khusnutdinova E, Lubinski J, Dörk T (2009) A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat 118:207–211CrossRefPubMed Bogdanova N, Cybulski C, Bermisheva M, Datsyuk I, Yamini P, Hillemanns P, Antonenkova NN, Khusnutdinova E, Lubinski J, Dörk T (2009) A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat 118:207–211CrossRefPubMed

Zurück zum Zitat Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, Dörk T (2010) High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet 78:364–372CrossRefPubMed Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, Dörk T (2010) High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet 78:364–372CrossRefPubMed

Zurück zum Zitat Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T (2013) Nonsense mutation p. Q548X in BLM, the gene mutated in Bloom’s syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 137(2):533–539CrossRefPubMed Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T (2013) Nonsense mutation p. Q548X in BLM, the gene mutated in Bloom’s syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 137(2):533–539CrossRefPubMed

Zurück zum Zitat Noskowicz M, Bogdanova N, Bermisheva M, Takhirova Z, Antonenkova N, Khusnutdinova E, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Dörk T (2014) Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe. Fam Cancer 13(2):137–142CrossRefPubMed Noskowicz M, Bogdanova N, Bermisheva M, Takhirova Z, Antonenkova N, Khusnutdinova E, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Dörk T (2014) Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe. Fam Cancer 13(2):137–142CrossRefPubMed

Zurück zum Zitat Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG (2012) Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 8(9):e1002894 Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG (2012) Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 8(9):e1002894

Zurück zum Zitat Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H (2014) Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci USA 111(42):15172–15177CrossRefPubMedPubMedCentral Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H (2014) Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci USA 111(42):15172–15177CrossRefPubMedPubMedCentral

Zurück zum Zitat Sun J, Wang Y, Xia Y, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Lou H, Xie Y (2015) Mutations in RECQL gene are associated with predisposition to breast cancer. PLoS Genet 11(5):e1005228CrossRefPubMedPubMedCentral Sun J, Wang Y, Xia Y, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Lou H, Xie Y (2015) Mutations in RECQL gene are associated with predisposition to breast cancer. PLoS Genet 11(5):e1005228CrossRefPubMedPubMedCentral

Zurück zum Zitat Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR (2015) Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet 47(6):643–646CrossRefPubMed Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR (2015) Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet 47(6):643–646CrossRefPubMed

Zurück zum Zitat Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP (2015) Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. Breast Cancer Res Treat 153(2):435–443CrossRefPubMedPubMedCentral Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP (2015) Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. Breast Cancer Res Treat 153(2):435–443CrossRefPubMedPubMedCentral

Zurück zum Zitat Chan K, Roberts SA, Klimczak LJ, Sterling JF, Saini N, Malc EP, Kim J, Kwiatkowski DJ, Fargo DC, Mieczkowski PA, Getz G, Gordenin DA (2015) An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet 47(9):1067–1072CrossRefPubMedPubMedCentral Chan K, Roberts SA, Klimczak LJ, Sterling JF, Saini N, Malc EP, Kim J, Kwiatkowski DJ, Fargo DC, Mieczkowski PA, Getz G, Gordenin DA (2015) An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet 47(9):1067–1072CrossRefPubMedPubMedCentral

Zurück zum Zitat Burns MB, Leonard B, Harris RS (2015) APOBEC3B: pathological consequences of an innate immune DNA mutator. Biomed J 38(2):102–110CrossRefPubMed Burns MB, Leonard B, Harris RS (2015) APOBEC3B: pathological consequences of an innate immune DNA mutator. Biomed J 38(2):102–110CrossRefPubMed