MGY250 Unit 11 Quiz

The One Retinoblastoma World map is an excellent resource that "aims to connect affected families to expert care; promote evidence-based retinoblastoma treatment; and facilitate enhanced collaboration among treatment centers." In your web browser, go to the page http://map.1rbw.org/ (Links to an external site.) and select "Go directly to the map". On the map, look up country information on Canada. Canada has ?? estimated new patients annually and there are ?? documented treatment centres in the country? Note: Map seems not to load in Chrome, but will load in Safari or Explorer. If you're able, use the interactive map to explore the site. If not, see screenshots here. 115, 10 38, 4 158, 7 24, 10

24, 10

The One Retinoblastoma World map is an excellent resource that "aims to connect affected families to expert care; promote evidence-based retinoblastoma treatment; and facilitate enhanced collaboration among treatment centers." In your web browser, go to the page http://map.1rbw.org/ (Links to an external site.) and select "Go directly to the map". On the map, look up country information on Kenya. There are ?? documented treatment centres in Kenya? Note: Map seems not to load in Chrome, but will load in Safari or Explorer. If you're able, use the interactive map to explore the site. If not, see screenshots here. 3 4 7 2

7

Retinoblastoma is initiated by loss of function of RB1 and progression is frequently associated with (select all that apply): Amplification of specific chromosomal regions including 1q32, 2p24, 6p22 Amplification of genes including KIF14, MDM4, MYCN, DEK Loss of function of BRCA1 and/or BRCA2 General genome instability with a lack of pattern in amplification or deletion

Amplification of specific chromosomal regions including 1q32, 2p24, 6p22 Amplification of genes including KIF14, MDM4, MYCN, DEK

The inheritance pattern of retinoblastoma is: Autosomal recessive X-linked recessive X-linked dominant Autosomal dominant

Autosomal dominant

The One Retinoblastoma World map is an excellent resource that "aims to connect affected families to expert care; promote evidence-based retinoblastoma treatment; and facilitate enhanced collaboration among treatment centers." In your web browser, go to the page http://map.1rbw.org/ (Links to an external site.) and select "Go directly to the map". How many retinoblastoma genetic testing labs are there worldwide? Hint: you should be able to see them on the map, but this is a lot easier if you unclick "Retinoblastoma Treatment Centers" and "Stories" Note: Map seems not to load in Chrome, but will load in Safari or Explorer. If you're able, use the interactive map to explore the site. If not, see screenshots here. Between 2 and 10 1 Between 11 and 20 Greater than 20

Between 2 and 10

Retinoblastoma caused by RB1+/+ MYCNA is (select all that apply): Diagnosed at a very early median age Caused by a constitutional (germline) MYCN amplification Common Very aggressive

Diagnosed at a very early median age Very aggressive

Retinoblastoma is an excellent model for testing genetic service interventions because (select all that apply): It is the prototypic genetic cancer where genetic testing and counselling have a large effect on the outcome of the child It is a frequently occurring cancer Retinoblastoma care is an example of the inequity of the service gap globally

It is the prototypic genetic cancer where genetic testing and counselling have a large effect on the outcome of the child Retinoblastoma care is an example of the inequity of the service gap globally

Dr. Kahaki thinks that the biggest challenge to treating retinoblastoma in Kenya is A lack of genetic counsellors A lack of locally available focal therapy A lack of genetic testing centres Late diagnosis of the disease

Late diagnosis of the disease

Development of a comprehensive genetics service in Kenya was found to rest on the following 3 pillars: Patient and Family Counselling, Community Health Care Worker Intervention and Medical Eduction Genetic Testing, Community Involvement and Medical Eduction Patient and Family Counselling, Community Involvement and Medical Eduction Genetic Testing, Community Involvement and Frequent Screening

Patient and Family Counselling, Community Involvement and Medical Eduction

Prior to cloning the retinoblastoma gene, researchers knew that it had to be on chromosome 13q because: Patients with trisomy 13 have a high risk of retinoblastoma All genes that encode eye function are found on chromosome 13 Patients with big 13q deletions would have high risk of retinoblastoma Data from mouse backcross experiments suggested this

Patients with big 13q deletions would have high risk of retinoblastoma

Almost all individuals that are RB1-/- develop retinoblastoma because: RB1-/- exhibits variable expressivity Retinoblastoma is mostly sporadic RB1-/- penetrance is high Retinoblastoma is heritable

RB1-/- penetrance is high

In the AJCC TMNH retinoblastoma staging system, H0 indicates: That there is insufficient evidence to show that there is a constitutional RB1 mutation That you have proven that that person does not have a constitutional RB1 mutation. That it is unknown whether that person has a constitutional RB1 mutation. That the person has a constitutional RB1 mutation

That you have proven that that person does not have a constitutional RB1 mutation.

Germline mutations causing retinoblastoma are most often found on: The paternal allele, likely because it undergoes more DNA and cell divisions than the maternal allele The paternal allele, likely because the Y chromosome has a higher mutation rate The maternal allele, likely because it undergoes more DNA and cell divisions than the paternal allele The maternal allele, likely because the X chromosome has a higher mutation rate

The paternal allele, likely because it undergoes more DNA and cell divisions than the maternal allele

Which of the following statements are true about RB1 germline mutations? (select all that apply): There are two hotspots for mutation in the RB1 gene. They are often deletion mutations. They are not caused by splice site mutations. There are only a few known mutations in RB1 that cause retinoblastoma.

There are two hotspots for mutation in the RB1 gene. They are often deletion mutations.

Retinoblastoma an important global health issue because (select all that apply): There is a lack of guidance on genetic counselling delivery in the sociocultural context of many low resourced settings Most cases of retinoblastoma occur in high resourced settings Retinoblastoma is major cause of mortality worldwide There is a health equity gap in implementation of genetic services

There is a lack of guidance on genetic counselling delivery in the sociocultural context of many low resourced settings There is a health equity gap in implementation of genetic services

Reason(s) to include traditional healers in discussions of retinoblastoma care include (select all that apply): They are often the first point of contact so their referral to a medical clinic is important for early diagnosis They could be allies in improving the genetic follow up with retinoblastoma affected families, such as in referring newborns for screening They can potentially help dispel myths of the cause of retinoblastoma

They are often the first point of contact so their referral to a medical clinic is important for early diagnosis They could be allies in improving the genetic follow up with retinoblastoma affected families, such as in referring newborns for screening They can potentially help dispel myths of the cause of retinoblastoma

In the absence of genetic testing for retinoblastoma, all patients with unilateral retinoblastoma should be told (select all that apply): They are unlikely to have children with retinoblastoma therefore it is not necessary to bring newborns to the clinic shortly after birth They may be at risk for second cancers later in life Every child they have should be brought to the clinic shortly after birth to have their eyes examined

They may be at risk for second cancers later in life Every child they have should be brought to the clinic shortly after birth to have their eyes examined

For a person with heritable retinoblastoma (select all that are possible): There is no risk of secondary cancers Can be caused by amplification of the MYCN gene in retinal cells only, with normal RB1 This predisposition may not have been inherited from a parent All of their cells are predisposed to retinoblastoma due to a heterozygous RB1 mutation

This predisposition may not have been inherited from a parent All of their cells are predisposed to retinoblastoma due to a heterozygous RB1 mutation

A disadvantage(s) of relying on family history alone (without genetic testing) to determine if retinoblastoma is heritable is (select all that apply): Unable to determine the heritability in cases of unilateral retinoblastoma The family history information may not be accurate A small family size can make it difficult to determine an inheritance pattern Unable to determine the heritability of cases of bilateral retinoblastoma

Unable to determine the heritability in cases of unilateral retinoblastoma The family history information may not be accurate A small family size can make it difficult to determine an inheritance pattern

What are the three aspects of providing medical care to her retinoblastoma patients, according to Dr. Kahaki? tests to confirm diagnosis, tests to confirm extent of disease, providing treatment according to what is needed tests to confirm extent of disease, chemotherapy, radiotherapy tests to confirm diagnosis, genetic testing, chemotherapy chemotherapy, radiotherapy, enucleation

tests to confirm diagnosis, tests to confirm extent of disease, providing treatment according to what is needed