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64 Cards in this Set
- Front
- Back
Burkitt Lymphoma
Translocation site Genes at breakpoints |
t(8:14), t(8;2), t(8;22)
c-myc on 8 and Ig loci |
|
Follicular Lymphoma
Translocation site Genes at breakpoints |
t(14;18)
BCL2 on 14 and Ig loci |
|
Papillary Thyroid
Translocation site Genes at breakpoints |
inv10(q11.2;q21)
Ret |
|
T-ALL
Translocation site Genes at breakpoints |
t(8;14)
c-myc and T Cell Receptor (TCR) |
|
CML/ALL- Philadelphia
Translocation site Genes at breakpoints |
t(9;22)
c-ABL on 9 and BCR on 22 |
|
APL
Translocation site Genes at breakpoints |
t(15;17)
RARa on 17 and PML on 15 |
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ALL/ANLL
Translocation site Genes at breakpoints |
t(9;11), t(11;19), t(1;11)
MLL (11q23) and various partners |
|
pre-B ALL
Translocation site Genes at breakpoints |
t(1;19)
PBX1 on 1 and E2F on 19 |
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Ewing's Sarcoma
Translocation site Genes at breakpoints |
t(11;22)
Fli on 22 and EWS on 22 |
|
Rhabdomyosarcoma
Translocation site Genes at breakpoints |
t(2;13)
Pax3 on 2 and forkhead on 13 |
|
Prostate CA
Translocation site Genes at breakpoints |
Translocations/deletions of 21q22
TMPRSS2 and members of the ETS family |
|
Optic Gliomas
Approximate hereditary component (%) Genes involved |
45%
NF1 |
|
Juvenile Myelomonocytic Leukemia
Approximate hereditary component (%) Genes involved |
30-50%
NF1 |
|
Retinoblastoma
Approximate hereditary component (%) Genes involved |
40%
RB1 |
|
Pheochromocytoma
Approximate hereditary component (%) Genes involved |
25%
VHL, Ret, SDHB, SDHD |
|
Adrenocortial carcinoma
Approximate hereditary component (%) Genes involved |
50%
P53 |
|
Atypical Teratoid Rhabdoid Tumor
Approximate hereditary component (%) Genes involved |
20-30%
SMARCB1/SNF5/INI11 |
|
Wilms Tumor
Approximate hereditary component (%) Genes involved |
3-5%
WT1 and BWS loci |
|
FAP/Gardner
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD
Colonic 5-25 100% 5% Osteomas, Desmoid tumors, CHRPE, Epidermoid cysts, Hepatoblastoma, Thyroid CA 5q21-APC |
|
MODE OF INHERITANCE
POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % MUTYH/MYH Assoc Polyposis SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD and AR
Colonic Variable 1.5-2RR (AD) Unclear Not clearly described MYH (MUTYH) 1p34 |
|
Juvenile Polyposis
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD
Colonic and small int 5-10 10% 10% Hamartomas MAD4H (SMAD4) BMPR1A1, PTEN |
|
Peutz-Jeghers
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD
small intest 20s 15% 5-10% Pigemented lesions on the bucca; mucosa, Breast CA 19p13 STK11 and one not yet identified |
|
Turcot/Mismatch Repair Def Syndrome
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD and AR
colonic childhood in AR form variable unclear medulloblastoma, glioma/GBM, Tcell Lymphoma, NF1 like phenotype in AR form Both APC and HPNCC (AD) and PMS2, MSH6, MLH1 and MSH2 (AR) |
|
Cumulative risk (%) for breast and ovarian cancer in mutation carriers (age 50 and 70)
BRCA1 |
Age 50
Br 49 Ov 16 Age 70 Br 71 Ov 42 |
|
Cumulative risk (%) for breast and ovarian cancer in mutation carriers (age 50 and 70)
BRCA2 |
Age 50
Br 28 Ov 0.4 Age 70 Br 84 Ov 27 |
|
Cumulative risk (%) for breast and ovarian cancer in mutation carriers (age 50 and 70)
Ashkenazi BRCA muts |
Age 50
Br 33 Ov 7 Age 70 Br 56 Ov 16 |
|
Retinoblastoma
Gene name Common mutation type |
RB1
Frameshift, Nonsense, Dels |
|
Li Fraumeni
Gene name Common mutation type |
P53
Missense (partic exons 5-9) however, testing is controversial |
|
Familial Adenomatous Polyposis
Gene name Common mutation type |
APC
truncating |
|
MUTYH Polyposis
Gene name Common mutation type |
MUTYH, MYH
truncating |
|
Juvenile Polyposis
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD
Colonic and small int 5-10 10% 10% Hamartomas MAD4H (SMAD4) BMPR1A1, PTEN |
|
Peutz-Jeghers
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD
small intest 20s 15% 5-10% Pigemented lesions on the bucca; mucosa, Breast CA 19p13 STK11 and one not yet identified |
|
Turcot/Mismatch Repair Def Syndrome
MODE OF INHERITANCE POLYP LOCATION AGE OF ONSET ADENOCARCINOMA % SMALL INT CA % EXTRACOLONIC MANIFESTATIONS GENES |
AD and AR
colonic childhood in AR form variable unclear medulloblastoma, glioma/GBM, Tcell Lymphoma, NF1 like phenotype in AR form Both APC and HPNCC (AD) and PMS2, MSH6, MLH1 and MSH2 (AR) |
|
Cumulative risk (%) for breast and ovarian cancer in mutation carriers (age 50 and 70)
BRCA1 |
Age 50
Br 49 Ov 16 Age 70 Br 71 Ov 42 |
|
Cumulative risk (%) for breast and ovarian cancer in mutation carriers (age 50 and 70)
BRCA2 |
Age 50
Br 28 Ov 0.4 Age 70 Br 84 Ov 27 |
|
Cumulative risk (%) for breast and ovarian cancer in mutation carriers (age 50 and 70)
Ashkenazi BRCA muts |
Age 50
Br 33 Ov 7 Age 70 Br 56 Ov 16 |
|
Retinoblastoma
Gene name Common mutation type |
RB1
Frameshift, Nonsense, Dels |
|
Li Fraumeni
Gene name Common mutation type |
P53
Missense (partic exons 5-9) however, testing is controversial |
|
Familial Adenomatous Polyposis
Gene name Common mutation type |
APC
truncating |
|
MUTYH Polyposis
Gene name Common mutation type |
MUTYH, MYH
truncating |
|
HNPCC
Gene name Common mutation type |
MSH2, MLH1, MSH6
Variety of truncating, rare missense, tumor has microsatellite instab |
|
Breast/Ovarian
Gene name Common mutation type |
BRCA1/2
Truncating/rare missense |
|
Cowden
Gene name Common mutation type |
PTEN
Truncating/ rare missense |
|
MEN1
Gene name Common mutation type |
MEN1
Truncating/ missense |
|
MEN2A and B
Gene name Common mutation type |
Ret
Specific missense |
|
Von Hippel Lindau
Gene name Common mutation type |
VHL
Missense, nonsense, rare del, spread throughout the gene |
|
Gorlin
Gene name Common mutation type |
PTCH
Nonsense, truncating |
|
Rhabdoid Predisposition Syndrome
Gene name Common mutation type |
SMARCB1/1
Nonsense, deletions |
|
Ataxia Telangiectasia
Clinical Features Diagnostic Test Treatment Adjustments with Dx |
cerebellar ataxia, telangiectasias, immunodef, leukemias, lymphomas and solid tumors
inc AFP, sensitiz to ionizing rad alter radiation therapy and chemo that induces double strand breaks |
|
Nijmegen breakage syndrome
Clinical Features Diagnostic Test Treatment Adjustments with Dx |
microcephaly, immunodef, DD, lymphoma
sens to ionizing rad, polish founder mut in NBS1 alter radiation therapy and chemo that induces double strand breaks |
|
HNPCC
Gene name Common mutation type |
MSH2, MLH1, MSH6
Variety of truncating, rare missense, tumor has microsatellite instab |
|
Breast/Ovarian
Gene name Common mutation type |
BRCA1/2
Truncating/rare missense |
|
Cowden
Gene name Common mutation type |
PTEN
Truncating/ rare missense |
|
MEN1
Gene name Common mutation type |
MEN1
Truncating/ missense |
|
MEN2A and B
Gene name Common mutation type |
Ret
Specific missense |
|
Von Hippel Lindau
Gene name Common mutation type |
VHL
Missense, nonsense, rare del, spread throughout the gene |
|
Gorlin
Gene name Common mutation type |
PTCH
Nonsense, truncating |
|
Rhabdoid Predisposition Syndrome
Gene name Common mutation type |
SMARCB1/1
Nonsense, deletions |
|
Ataxia Telangiectasia
Clinical Features Diagnostic Test Treatment Adjustments with Dx |
cerebellar ataxia, telangiectasias, immunodef, leukemias, lymphomas and solid tumors
inc AFP, sensitiz to ionizing rad alter radiation therapy and chemo that induces double strand breaks |
|
Nijmegen breakage syndrome
Clinical Features Diagnostic Test Treatment Adjustments with Dx |
microcephaly, immunodef, DD, lymphoma
sens to ionizing rad, polish founder mut in NBS1 alter radiation therapy and chemo that induces double strand breaks |
|
Ligase IV deficiency
Clinical Features Diagnostic Test Change in care indicated |
Microcephaly, immunodef, anemia, DD, lymphomas
sensitivity to ionizing rad alter rad therapy, chemo that induces DS breaks |
|
Fanconi Anemia
Clinical Features Diagnostic Test Change in care indicated |
Bone marrow failure, radial ray anomalies, microophalmia, renal anomalies, bronzing of the skin
chromosome breakage after DEB specialized conditioning for BMT, sens to x-linking agents |
|
Bloom Syndrome
Clinical Features Diagnostic Test Change in care indicated |
short stature, butterfly rash on face, GI intol, immunodef
increased sister chromatid exchange increased toxicity to chemo |
|
Gorlin Syndrome
Clinical Features Diagnostic Test Change in care indicated |
palmar pits, calcification of the falx, odontogenic cysts, basal cell CA, medulloblastoma
mut anal of PTCH gene rad ther causes large numbers of BCC in radiation field |