Posts associated with "Genetic Test Interpretation"

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ICARE Newsletter Winter 2021

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that “… it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.”2 Another subsequent report in 2008 based …

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Permanent link to this article: https://inheritedcancer.net/4nlw2021/

ICARE Newsletter Winter 2021

Ask the Expert

In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Rebecca Smith, PhD, Laboratory Director at Genetics Associates, Inc. with over 20 years of experience in biomedical research and 7 years of experience in clinical laboratory diagnostics. If you have a question …

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Permanent link to this article: https://inheritedcancer.net/9nlw2021/

ICARE Social Media Post December 2020

CDH1 Cancer Risks

When a 𝘾𝘿𝙃1 mutation is identified, several factors should be considered to figure out what the cancer risks might be and what medical management should be advised. Specifically, differences in cancer risks among those with a 𝘾𝘿𝙃1 mutation are not well understood.   Identifying a 𝘾𝘿𝙃1 mutation in families with hereditary diffuse gastric cancer (HDGC) …

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Permanent link to this article: https://inheritedcancer.net/post121520/

ICARE Featured Video November 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

Below you may watch a featured video from the November 2020 Genetics Case Conference, which outlined how CHEK2 is NOT a Li-Fraumeni Syndrome gene. For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473​ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270​ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638

Permanent link to this article: https://inheritedcancer.net/video111220/

ICARE Newsletter Summer 2020

Ask the Expert

In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the …

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Permanent link to this article: https://inheritedcancer.net/6nls2020/

ICARE Featured Video May 2020

Variant Classification

Below you may watch a featured video from the May 2020 Genetics Case Conference, which focused on deciphering variant reports and classification with guest expert Dr. Rebecca Smith from Vanderbilt University Medical Center.    

Permanent link to this article: https://inheritedcancer.net/video51420/

ICARE Newsletter Summer 2019

Ask the Expert

The following question was addressed by Gillian Hooker, PhD, ScM, LCGC, who is the president-elect for the National Society of Genetic Counselors, Adjunct Associate Professor in the Division of Genetic Medicine at the Vanderbilt University Medical Center, and the Vice President of Clinical Development for Concert Genetics in Nashville, TN. Q. Why was the BRCA1/2 …

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Permanent link to this article: https://inheritedcancer.net/10nls2019/

ICARE Newsletter Winter 2019

Testing Interpretation and Variant Reclassification

Results of germline genetic testing generally yield three types of test results: Deleterious (positive), Negative (no mutation detected), and Variant of Uncertain Significance (VUS). As more genes are tested, the chance for a positive result goes up, as does the chance of receiving a VUS result.1 VUS results tell us that it remains uncertain whether …

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Permanent link to this article: https://inheritedcancer.net/15nlw2019/

ICARE Newsletter Summer 2011

Ask the Expert

We are fortunate to have Dr.  Alvaro Monteiro, who is a molecular geneticist and expert on the BRCA1 and BRCA2 genes, as a member of our team. For our first ICARE newsletter, Dr. Monteiro teaches us about Variants of Uncertain Significance. Q. What is a Variant of Uncertain Significance (VUS) test result? How do researchers …

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Permanent link to this article: https://inheritedcancer.net/1nls2011/