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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
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
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