Constitutional translocations

A patient with an infantile sacrococcygeal teratoma and a constitutional t(12;15)(q13;q25) has been identified.
By this chromosomal translocation, the SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and the embryonic polarity-related mesoderm development gene (MESDC2) on chromosome 15 are disrupted and fused.
Both reciprocal SENP1-MESDC2 (SEME) and MESDC2-SENP1 (MESE) fusion genes are transcribed in tumor-derived cells and their open reading frames encode aberrant proteins. (...)

Pathology
transient but potentially recurring neonatal leukemia (#18657848#)
References
Wong KF, Yuen HL, Siu LL, Pang A, Kwong YL. t(8;16)(p11;p13) predisposes to a transient but potentially recurring neonatal leukemia. Hum Pathol. 2008 Jul 25. PMID: #18657848#

der(10)t(6;10)(q23;q26)

constitutional t(11;22)(q23;q11)

A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). A t(9;12)(p21;q13) balanced chromosome translocation has been described in a family with LNN and CMM.
Molecular bioology
Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. (#17099875#)
References
Pujana MA, Ruiz A, Badenas C, Puig-Butille JA, Nadal M, Stark M, Gomez L, Valls J, Sole X, (...)

A subset of familial cases of renal cell carcinoma harbors a balanced constitutional chromosome 3 translocation. To date nine different chromosome 3 translocations have been associated with familial or multicentric clear cell RCC; and in three cases chromosome 6 was also involved.
The constitutional translocation, t(3;6)(q22;q16.1) is associated with multicentric RCC without evidence of VHL target gene dysregulation.
An analysis of breakpoint sequences revealed a 1.3-kb deletion on (...)

The t(3;8)(p14;q24.1) translocation fuses FHIT at 3p14 with the patched-related gene TRC8 at 8q24.1 (#9689122#) with formation of the TRC8/FHIT fusion gene).
TRC8 gene can be interrupted by a t(3;8)(p14.2;q24.1) translocation in hereditary renal clear cell carcinoma (#17539022#) hereditary renal clear cell carcinoma and non-medullary thyroid cancer (#470981#, #12522559#, #17539022#)
References
Poland KS, Azim M, Folsom M, Goldfarb R, Naeem R, Korch C, Drabkin HA, Gemmill RM, Plon SE. (...)