A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. / Wadt, Karin Anna Wallentin; Aoude, L G; Johansson, P; Solinas, A; Pritchard, A; Crainic, O; Andersen, M.T.; Kiilgaard, Jens Folke; Heegaard, S; Sunde, L; Federspiel, Birgitte; Madore, J; Thompson, J F; McCarthy, S W; Goodwin, A; Tsao, H; Jönsson, G; Busam, K; Gupta, R; Trent, J M; Gerdes, A-M; Brown, K M; Scolyer, R A; Hayward, N K.

I: Clinical Genetics, Bind 88, Nr. 3, 09.2015, s. 267-272.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Wadt, KAW, Aoude, LG, Johansson, P, Solinas, A, Pritchard, A, Crainic, O, Andersen, MT, Kiilgaard, JF, Heegaard, S, Sunde, L, Federspiel, B, Madore, J, Thompson, JF, McCarthy, SW, Goodwin, A, Tsao, H, Jönsson, G, Busam, K, Gupta, R, Trent, JM, Gerdes, A-M, Brown, KM, Scolyer, RA & Hayward, NK 2015, 'A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma', Clinical Genetics, bind 88, nr. 3, s. 267-272. https://doi.org/10.1111/cge.12501

APA

Wadt, K. A. W., Aoude, L. G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M. T., Kiilgaard, J. F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., McCarthy, S. W., Goodwin, A., Tsao, H., Jönsson, G., Busam, K., Gupta, R., ... Hayward, N. K. (2015). A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clinical Genetics, 88(3), 267-272. https://doi.org/10.1111/cge.12501

Vancouver

Wadt KAW, Aoude LG, Johansson P, Solinas A, Pritchard A, Crainic O o.a. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clinical Genetics. 2015 sep.;88(3):267-272. https://doi.org/10.1111/cge.12501

Author

Wadt, Karin Anna Wallentin ; Aoude, L G ; Johansson, P ; Solinas, A ; Pritchard, A ; Crainic, O ; Andersen, M.T. ; Kiilgaard, Jens Folke ; Heegaard, S ; Sunde, L ; Federspiel, Birgitte ; Madore, J ; Thompson, J F ; McCarthy, S W ; Goodwin, A ; Tsao, H ; Jönsson, G ; Busam, K ; Gupta, R ; Trent, J M ; Gerdes, A-M ; Brown, K M ; Scolyer, R A ; Hayward, N K. / A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. I: Clinical Genetics. 2015 ; Bind 88, Nr. 3. s. 267-272.

Bibtex

@article{b3660affa3364faeb55a52c32d81def3,

title = "A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma",

abstract = "We report four previously undescribed families with germline BRCA1-associated protein-1 gene (BAP1) mutations and expand the clinical phenotype of this tumor syndrome. The tumor spectrum in these families is predominantly uveal malignant melanoma (UMM), cutaneous malignant melanoma (CMM) and mesothelioma, as previously reported for germline BAP1 mutations. However, mutation carriers from three new families, and one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in BAP1 (p.R60X), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family.",

author = "Wadt, {Karin Anna Wallentin} and Aoude, {L G} and P Johansson and A Solinas and A Pritchard and O Crainic and M.T. Andersen and Kiilgaard, {Jens Folke} and S Heegaard and L Sunde and Birgitte Federspiel and J Madore and Thompson, {J F} and McCarthy, {S W} and A Goodwin and H Tsao and G J{\"o}nsson and K Busam and R Gupta and Trent, {J M} and A-M Gerdes and Brown, {K M} and Scolyer, {R A} and Hayward, {N K}",

note = "{\textcopyright} 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2015",

month = sep,

doi = "10.1111/cge.12501",

language = "English",

volume = "88",

pages = "267--272",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "3",

}

RIS

TY - JOUR

T1 - A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

AU - Wadt, Karin Anna Wallentin

AU - Aoude, L G

AU - Johansson, P

AU - Solinas, A

AU - Pritchard, A

AU - Crainic, O

AU - Andersen, M.T.

AU - Kiilgaard, Jens Folke

AU - Heegaard, S

AU - Sunde, L

AU - Federspiel, Birgitte

AU - Madore, J

AU - Thompson, J F

AU - McCarthy, S W

AU - Goodwin, A

AU - Tsao, H

AU - Jönsson, G

AU - Busam, K

AU - Gupta, R

AU - Trent, J M

AU - Gerdes, A-M

AU - Brown, K M

AU - Scolyer, R A

AU - Hayward, N K

PY - 2015/9

Y1 - 2015/9

N2 - We report four previously undescribed families with germline BRCA1-associated protein-1 gene (BAP1) mutations and expand the clinical phenotype of this tumor syndrome. The tumor spectrum in these families is predominantly uveal malignant melanoma (UMM), cutaneous malignant melanoma (CMM) and mesothelioma, as previously reported for germline BAP1 mutations. However, mutation carriers from three new families, and one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in BAP1 (p.R60X), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family.

AB - We report four previously undescribed families with germline BRCA1-associated protein-1 gene (BAP1) mutations and expand the clinical phenotype of this tumor syndrome. The tumor spectrum in these families is predominantly uveal malignant melanoma (UMM), cutaneous malignant melanoma (CMM) and mesothelioma, as previously reported for germline BAP1 mutations. However, mutation carriers from three new families, and one previously reported family, developed basal cell carcinoma (BCC), thus suggesting inclusion of BCC in the phenotypic spectrum of the BAP1 tumor syndrome. This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in BAP1 (p.R60X), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family.

U2 - 10.1111/cge.12501

DO - 10.1111/cge.12501

M3 - Journal article

C2 - 25225168

VL - 88

SP - 267

EP - 272

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

ID: 127204121