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Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway

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Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway. / Volckmar, Anna-Lena; Leichsenring, Jonas; Flechtenmacher, Christa; Pfarr, Nicole; Siebolts, Udo; Kirchner, Martina; Budczies, Jan; Bockmayr, Michael; Ridinger, Kathrin; Lorenz, Katja; Herpel, Esther; Noske, Aurelia; Weichert, Wilko; Klauschen, Frederick; Schirmacher, Peter; Penzel, Roland; Endris, Volker; Stenzinger, Albrecht.

In: GENE CHROMOSOME CANC, Vol. 56, No. 1, 01.2017, p. 11-17.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Volckmar, A-L, Leichsenring, J, Flechtenmacher, C, Pfarr, N, Siebolts, U, Kirchner, M, Budczies, J, Bockmayr, M, Ridinger, K, Lorenz, K, Herpel, E, Noske, A, Weichert, W, Klauschen, F, Schirmacher, P, Penzel, R, Endris, V & Stenzinger, A 2017, 'Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway', GENE CHROMOSOME CANC, vol. 56, no. 1, pp. 11-17. https://doi.org/10.1002/gcc.22396

APA

Volckmar, A-L., Leichsenring, J., Flechtenmacher, C., Pfarr, N., Siebolts, U., Kirchner, M., Budczies, J., Bockmayr, M., Ridinger, K., Lorenz, K., Herpel, E., Noske, A., Weichert, W., Klauschen, F., Schirmacher, P., Penzel, R., Endris, V., & Stenzinger, A. (2017). Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway. GENE CHROMOSOME CANC, 56(1), 11-17. https://doi.org/10.1002/gcc.22396

Vancouver

Volckmar A-L, Leichsenring J, Flechtenmacher C, Pfarr N, Siebolts U, Kirchner M et al. Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway. GENE CHROMOSOME CANC. 2017 Jan;56(1):11-17. https://doi.org/10.1002/gcc.22396

Bibtex

@article{a3192835cee445b8ba2ac94bb4eef0cb,
title = "Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway",
abstract = "Adenomas of the breast are rare benign tumors although single cases with malignant behavior have been reported. However, the genetic basis of these tumors is unknown. Employing targeted next generation sequencing of 50 cancer-related genes as well as Sanger sequencing, we profiled a cohort of 18 mammary adenomas comprising 9 ductal, 6 tubular, and 3 lactating adenoma. Missense mutations were detected in 8 of the 18 cases (44%). Specifically, five (56%) ductal adenomas and three (50%) tubular adenomas harbored mutated genes. No mutations were detected in lactating adenomas. Three of the nine ductal adenomas showed mutant AKT1 (p.E17K) with two of them harboring an additional GNAS mutation (p.R201C). One case had mutant PIK3CA (p.H1047R) and another case a mutation in GNAS (p.R201C). The three cases of mutated tubular adenomas showed mutations in either MET or FGFR3. Of note, we did not detect copy number changes and none of the cases including tubular adenomas had mutations in exon 2 of MED12. Our results suggest that ductal adenomas are related to papillomas of the breast and screening for mutations in exon 2 of MED12 might help to facilitate differential diagnosis between tubular adenoma and fibroadenoma in difficult cases. Lastly, our data exemplarily demonstrate that mutations in cancer-related genes per se do not indicate malignancy but occur in benign tumors. {\textcopyright} 2016 Wiley Periodicals, Inc.",
keywords = "Adenoma, Adolescent, Adult, Aged, Aged, 80 and over, Biomarkers, Tumor, Breast Neoplasms, Chromogranins, Exons, Female, Follow-Up Studies, GTP-Binding Protein alpha Subunits, Gs, High-Throughput Nucleotide Sequencing, Humans, Lactation, Mediator Complex, Middle Aged, Mutation, Neoplasm Staging, Phosphatidylinositol 3-Kinases, Prognosis, Proto-Oncogene Proteins c-akt, Young Adult, Journal Article",
author = "Anna-Lena Volckmar and Jonas Leichsenring and Christa Flechtenmacher and Nicole Pfarr and Udo Siebolts and Martina Kirchner and Jan Budczies and Michael Bockmayr and Kathrin Ridinger and Katja Lorenz and Esther Herpel and Aurelia Noske and Wilko Weichert and Frederick Klauschen and Peter Schirmacher and Roland Penzel and Volker Endris and Albrecht Stenzinger",
note = "{\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2017",
month = jan,
doi = "10.1002/gcc.22396",
language = "English",
volume = "56",
pages = "11--17",
journal = "GENE CHROMOSOME CANC",
issn = "1045-2257",
publisher = "Wiley-Liss Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway

AU - Volckmar, Anna-Lena

AU - Leichsenring, Jonas

AU - Flechtenmacher, Christa

AU - Pfarr, Nicole

AU - Siebolts, Udo

AU - Kirchner, Martina

AU - Budczies, Jan

AU - Bockmayr, Michael

AU - Ridinger, Kathrin

AU - Lorenz, Katja

AU - Herpel, Esther

AU - Noske, Aurelia

AU - Weichert, Wilko

AU - Klauschen, Frederick

AU - Schirmacher, Peter

AU - Penzel, Roland

AU - Endris, Volker

AU - Stenzinger, Albrecht

N1 - © 2016 Wiley Periodicals, Inc.

PY - 2017/1

Y1 - 2017/1

N2 - Adenomas of the breast are rare benign tumors although single cases with malignant behavior have been reported. However, the genetic basis of these tumors is unknown. Employing targeted next generation sequencing of 50 cancer-related genes as well as Sanger sequencing, we profiled a cohort of 18 mammary adenomas comprising 9 ductal, 6 tubular, and 3 lactating adenoma. Missense mutations were detected in 8 of the 18 cases (44%). Specifically, five (56%) ductal adenomas and three (50%) tubular adenomas harbored mutated genes. No mutations were detected in lactating adenomas. Three of the nine ductal adenomas showed mutant AKT1 (p.E17K) with two of them harboring an additional GNAS mutation (p.R201C). One case had mutant PIK3CA (p.H1047R) and another case a mutation in GNAS (p.R201C). The three cases of mutated tubular adenomas showed mutations in either MET or FGFR3. Of note, we did not detect copy number changes and none of the cases including tubular adenomas had mutations in exon 2 of MED12. Our results suggest that ductal adenomas are related to papillomas of the breast and screening for mutations in exon 2 of MED12 might help to facilitate differential diagnosis between tubular adenoma and fibroadenoma in difficult cases. Lastly, our data exemplarily demonstrate that mutations in cancer-related genes per se do not indicate malignancy but occur in benign tumors. © 2016 Wiley Periodicals, Inc.

AB - Adenomas of the breast are rare benign tumors although single cases with malignant behavior have been reported. However, the genetic basis of these tumors is unknown. Employing targeted next generation sequencing of 50 cancer-related genes as well as Sanger sequencing, we profiled a cohort of 18 mammary adenomas comprising 9 ductal, 6 tubular, and 3 lactating adenoma. Missense mutations were detected in 8 of the 18 cases (44%). Specifically, five (56%) ductal adenomas and three (50%) tubular adenomas harbored mutated genes. No mutations were detected in lactating adenomas. Three of the nine ductal adenomas showed mutant AKT1 (p.E17K) with two of them harboring an additional GNAS mutation (p.R201C). One case had mutant PIK3CA (p.H1047R) and another case a mutation in GNAS (p.R201C). The three cases of mutated tubular adenomas showed mutations in either MET or FGFR3. Of note, we did not detect copy number changes and none of the cases including tubular adenomas had mutations in exon 2 of MED12. Our results suggest that ductal adenomas are related to papillomas of the breast and screening for mutations in exon 2 of MED12 might help to facilitate differential diagnosis between tubular adenoma and fibroadenoma in difficult cases. Lastly, our data exemplarily demonstrate that mutations in cancer-related genes per se do not indicate malignancy but occur in benign tumors. © 2016 Wiley Periodicals, Inc.

KW - Adenoma

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Biomarkers, Tumor

KW - Breast Neoplasms

KW - Chromogranins

KW - Exons

KW - Female

KW - Follow-Up Studies

KW - GTP-Binding Protein alpha Subunits, Gs

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Lactation

KW - Mediator Complex

KW - Middle Aged

KW - Mutation

KW - Neoplasm Staging

KW - Phosphatidylinositol 3-Kinases

KW - Prognosis

KW - Proto-Oncogene Proteins c-akt

KW - Young Adult

KW - Journal Article

U2 - 10.1002/gcc.22396

DO - 10.1002/gcc.22396

M3 - SCORING: Journal article

C2 - 27438523

VL - 56

SP - 11

EP - 17

JO - GENE CHROMOSOME CANC

JF - GENE CHROMOSOME CANC

SN - 1045-2257

IS - 1

ER -