Set of flashcards Clinical genetic exam 20

Flashcards	100
Language	Deutsch
Category	Medical
Level	University
Created / Updated	23.02.2020 / 24.02.2020
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Somatic del(1p) and del(19q) are characteristic for

Primary glioblastoma

Meningioma

Ependymoma

Oligodendroglioma

Primary glioblastoma

Meningioma

Ependymoma

Oligodendroglioma

WAGR acronym stands for

Wilms tumor, Aniridia, Genitourinary abnormalities, Retardation of psychomotor development

Wooly hair, Azoospermia, Gonadoblastoma risk, Renal abnormalities

Wormian bones, Adontia, Growth retardation, Radius bone defects

Wilms tumor, Adontia, Gonadoblastoma risk, Radius bone defects

Wilms tumor, Aniridia, Genitourinary abnormalities, Retardation of psychomotor development

Wooly hair, Azoospermia, Gonadoblastoma risk, Renal abnormalities

Wormian bones, Adontia, Growth retardation, Radius bone defects

Wilms tumor, Adontia, Gonadoblastoma risk, Radius bone defects

Term “triple negative” breast cancer refers to:

A patient who has been diagnosed with three primary breast and/or ovarian cancers

A breast cancer patient who has been diagnosed with no mutations in three genes: BRCA1, BRCA2 and PALB2

A breast cancer with no cell surface receptors for estrogen, progesterone and HER2

A breast cancer patient in whose family BRCA1 and BRCA2 mutations were excluded in at least three of 1st/2nd degree relatives

A patient who has been diagnosed with three primary breast and/or ovarian cancers

A breast cancer patient who has been diagnosed with no mutations in three genes: BRCA1, BRCA2 and PALB2

A breast cancer with no cell surface receptors for estrogen, progesterone and HER2

A breast cancer patient in whose family BRCA1 and BRCA2 mutations were excluded in at least three of 1st/2nd degree relatives

In oncology, molecular prognostic markers allow to

Predict a tumor’s drug sensitivity

Establish the prognosis about the course of a disease

Predict tumor’s radio sensitivity

Decide about prophylactic resection of healthy organs

Predict a tumor’s drug sensitivity

Establish the prognosis about the course of a disease

Predict tumor’s radio sensitivity

Decide about prophylactic resection of healthy organs

EML4-ALK fusion gene is present in 3-5% of

Breast cancer

Small cell lung cancer

Non-small cell lung cancer

Colon cancer metastasis

Breast cancer

Small cell lung cancer

Non-small cell lung cancer

Colon cancer metastasis

Intrinsic resistance to targeted therapy in oncology results from

Cancer genetics instability

Mutation in p53gene

Activation of the alternative genetic pathway by given therapy

Decrease in immunity of cancer cells

Cancer genetics instability

Mutation in p53gene

Activation of the alternative genetic pathway by given therapy

Decrease in immunity of cancer cells

Term “genetic tumor heterogeneity” means:

A situation when one patient suffers from two or more different cancers

An unequal supply of oxygen in different areas of the tumor

A variety in frequency of necrotic cells in different areas of the tumor

An existence of different clones of cancer cells within the tumor

A situation when one patient suffers from two or more different cancers

An unequal supply of oxygen in different areas of the tumor

A variety in frequency of necrotic cells in different areas of the tumor

An existence of different clones of cancer cells within the tumor

DNA methylation is involved in

Intracellular signal transduction

Regulation of gene expression

Chromosome Philadelphia formation

Regulation of the frequency of unbalanced translocations in cancer cells

Intracellular signal transduction

Regulation of gene expression

Chromosome Philadelphia formation

Regulation of the frequency of unbalanced translocations in cancer cells

Turcot syndrome belongs to a group of

Hereditary colon cancer syndromes

Hereditary breast/ovarian cancer syndromes

Chromosome breakage syndromes

Trinucleotide repeats expansion disease

Hereditary colon cancer syndromes

Hereditary breast/ovarian cancer syndromes

Chromosome breakage syndromes

Trinucleotide repeats expansion disease

The term “oncogene addiction” means

That the response to a therapy depends on the expression of TP53

That the development of cancer is related to the expression of BRCA1

That there is a critical oncogene mutation resulting in cell proliferation

This term does not exist!

That the response to a therapy depends on the expression of TP53

That the development of cancer is related to the expression of BRCA1

That there is a critical oncogene mutation resulting in cell proliferation

This term does not exist!

To extracolonic symptoms of familial adenomatous polyposis belong

Congenital hypertrophy of the retinal pigment epithelium, jaw cysts, sebaceous cysts and osteomas

Increased frequency of sunlight-induced skin cancers, progressive degenerative skin and eyes changes, skin cancers

Lisch nodules, jaw cysts and osteomas

Mental retardation and dysmorphic features

Congenital hypertrophy of the retinal pigment epithelium, jaw cysts, sebaceous cysts and osteomas

Increased frequency of sunlight-induced skin cancers, progressive degenerative skin and eyes changes, skin cancers

Lisch nodules, jaw cysts and osteomas

Mental retardation and dysmorphic features

Hamartoma is

Mostly noncancerous, tumor-like growth consisting of a disorganized mixture of cells and tissues

A rare type of adrenocortical cancer

A hereditary skin cancer syndrome

A synonym for teratoma

Mostly noncancerous, tumor-like growth consisting of a disorganized mixture of cells and tissues

A rare type of adrenocortical cancer

A hereditary skin cancer syndrome

A synonym for teratoma

Response to monoclonal anti-EGFR therapy in colorectal cancer metastases depends on:

mutations in KRAS, PIK3CA, BRAF and NRAS genes

mutations in Mutator genes

mutations in BRCA1 gene

mutations in APC gene

mutations in KRAS, PIK3CA, BRAF and NRAS genes

mutations in Mutator genes

mutations in BRCA1 gene

mutations in APC gene

Bilateral, prophylactic mastectomy should be offered to

All patients diagnosed with breast cancer

All patients diagnosed with breast cancer before 50

Carriers of BRCA1/BRCA2 mutations who were diagnosed with breast cancer

All carriers of BRCA1/BRCA2 pathogenic mutations

All patients diagnosed with breast cancer

All patients diagnosed with breast cancer before 50

Carriers of BRCA1/BRCA2 mutations who were diagnosed with breast cancer

All carriers of BRCA1/BRCA2 pathogenic mutations

Presented pedigree meets the clinical criteria of:

HNPCC

FAP

HBOC

Von Hippel-Lindau syndrome

HNPCC

FAP

HBOC

Von Hippel-Lindau syndrome

Intellectual disability, tall stature, marcoorchidism, dolichocephaly, mandibular prognathism, and protruding ears are typical clinical symptoms of a disease caused by:

mutation in FMR1 gene

a mutation in HTT (IT 15) gene

an additional X chromosome in a male

a mutation in MECP 2 gene

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mutation in FMR1 gene

a mutation in HTT (IT 15) gene

an additional X chromosome in a male

a mutation in MECP 2 gene

A woman whose son and brother have Duchenne muscular dystrophy?

is an obligatory mutation carrier

is not an mutation carrier

there is a 50% risk that the woman is a mutation carrier

there ist a 75% risk that the woman is a mutation carrier

is an obligatory mutation carrier

is not an mutation carrier

there is a 50% risk that the woman is a mutation carrier

there ist a 75% risk that the woman is a mutation carrier

Spinal muscular atrophy is characterized by the occurrence of:

subtypes classified by the age of onset and the severity of clinical symptoms

simultaneous mutation in SMN1 and SMN2 gene

intellectual disability

All of the above

subtypes classified by the age of onset and the severity of clinical symptoms

simultaneous mutation in SMN1 and SMN2 gene

intellectual disability

All of the above

Ultrasonographic features of Down syndrome in fetus are:

1. increased size of nuchal translucency

2. decreased size of nuchal translucency

3. increaded ossification of nasal bone

4. decreased ossificaltion of nasal bone

5. shortened femur

6. bifid uvula

1, 4, 5

1, 3, 6

1, 3, 5, 6

2, 4, 5

1, 4, 5

1, 3, 6

1, 3, 5, 6

2, 4, 5

Clinical genetic exam 20

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