2015
DOI: 10.1016/j.cancergen.2015.07.004
|View full text |Cite
|
Sign up to set email alerts
|

An asbestos-exposed family with multiple cases of pleural malignant mesothelioma without inheritance of a predisposing BAP1 mutation

Abstract: We report a family with domestic exposure to asbestos and multiple cancers, including eight pleural malignant mesotheliomas and several other lung/pleural tumors. DNA sequence analysis revealed no evidence for an inherited mutation of BAP1. Sequence analysis of other potentially relevant genes, including TP53, CDKN2A and BARD1, also revealed no mutations. DNA microarray analysis of two mesotheliomas revealed multiple genomic imbalances including consistent losses of overlappping segments in 2q, 6q, 9p, 14q, 15… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

1
8
0
1

Year Published

2016
2016
2023
2023

Publication Types

Select...
4
1

Relationship

1
4

Authors

Journals

citations
Cited by 13 publications
(10 citation statements)
references
References 27 publications
1
8
0
1
Order By: Relevance
“…IHC findings in three epithelioid MM cases (C-II-1, D-II-3, O-II-3) suggest that the loss of nuclear staining occurred via somatic mutation Page 10 of 19 (see Figure 1). BAP1 nuclear staining retained in one sarcomatoid MM (G-II-8) is in agreement with other studies reporting data of positive BAP1 staining on sarcomatoid MM [25] and on the absence of BAP1 mutation [9,10,18,19]. Considering all families with multiple cases of MM analyzed to date for BAP1 germline mutations (see Table 2), those described in the present study without a predisposing germline BAP1 mutation are similar to those reported by other investigators [9,10,19].…”
Section: Case D-ii-3) Somatic Mutations In Exonsupporting
confidence: 93%
See 4 more Smart Citations
“…IHC findings in three epithelioid MM cases (C-II-1, D-II-3, O-II-3) suggest that the loss of nuclear staining occurred via somatic mutation Page 10 of 19 (see Figure 1). BAP1 nuclear staining retained in one sarcomatoid MM (G-II-8) is in agreement with other studies reporting data of positive BAP1 staining on sarcomatoid MM [25] and on the absence of BAP1 mutation [9,10,18,19]. Considering all families with multiple cases of MM analyzed to date for BAP1 germline mutations (see Table 2), those described in the present study without a predisposing germline BAP1 mutation are similar to those reported by other investigators [9,10,19].…”
Section: Case D-ii-3) Somatic Mutations In Exonsupporting
confidence: 93%
“…The absence of a germline mutation in coding regions and intron-exon boundaries of BAP1 gene was proven in the normal tissue DNA belonging to one index case (D-II-4) and by excluding single point mutations and small InDels in tumor DNA belonging to the other three index cases (C-II-2, O-III-1, G-II-6). We cannot exclude large deletions of BAP1 that are undetectable by Sanger sequencing [3,9,11,19]. However, large deletions of BAP1 have never been detected in germline configuration in families either with multiple MM [3,9,11,[32][33][34][35][36][37] or without MM [26,28,29].…”
Section: Discussionmentioning
confidence: 93%
See 3 more Smart Citations