Posts associated with "New Genes"

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ICARE Social Media Post January 2020

New Gene: DUOX2

DUOX2 represents a newly identified gene that might predispose patients to thyroid cancer (specifically, ‘non-medullary’ thyroid cancer). The specific gene change (or ‘mutation’) that leads to thyroid cancer predisposition is known as Y1203H Additional studies are needed to confirm this association. Check it out at ASCO Post: https://tinyurl.com/sw3ew63 𝐨𝐫 you can access the article at …

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Permanent link to this article: https://inheritedcancer.net/post12420/

ICARE Social Media Post January 2020

New Gene: RABL3

About 10% of pancreatic cancers are thought to be the result of an inherited mutation. All of the genes that predispose patients to pancreatic cancers have not yet been discovered. Recently, a new gene known as RABL3 was linked to pancreatic cancer. This gene may increase the risk of hereditary pancreatic cancer. Additional studies are …

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Permanent link to this article: https://inheritedcancer.net/post12120/

ICARE Social Media Post January 2020

Celebrating 10 Years of ICARE

  Happy New Year! 2020 represents a decade for ICARE We are celebrating 10 years of research, education, and engagement, through which we have enrolled nearly 3500 participants, including over 2000 gene mutation carriers, disseminated 15 newsletters, led and collaborated on multiple research projects, and impacted individuals affected by inherited cancer predisposition all over the …

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Permanent link to this article: https://inheritedcancer.net/post1920/

ICARE Newsletter Winter 2019

New Genes: GALNT12

A gene called GALNT12 may be yet another inherited colorectal cancer gene,1 as originally suggested by prior studies.2 The current study screened almost 500 colorectal cancer patients and identified 8 rare variants that may be disease causing. The frequency of variants among colorectal cancer patients was much higher than that observed among population-matched healthy controls, …

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Permanent link to this article: https://inheritedcancer.net/13nlw2019/

ICARE Newsletter Summer 2018

NTHL1: A New Gene for Inherited Colorectal Cancers

In a study of 51 individuals with multiple colon polyps drawn from 48 families, genetic testing through whole-exome sequencing identified 7 individuals (from 3 unrelated families) to have a mutation in both copies of their NTHL1 gene, and pedigree structure was consistent with autosomal recessive inheritance.1 All these individuals had colorectal cancer and a large …

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Permanent link to this article: https://inheritedcancer.net/6nls2018/

ICARE Newsletter Summer 2018

New Data to Suggest Additional Genes Associated with Breast and Ovarian Cancer

A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …

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Permanent link to this article: https://inheritedcancer.net/7nls2018/

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Associations for Genes Tested Through Multi-Gene Panels

As testing for multiple genes at the same time (“multi-gene panel testing”) has become increasingly available with tremendous advances in genetic testing technology, it has become critical to evaluate and refine cancer associations and levels of risk for many of these genes now tested. Through a commercial laboratory database of almost 100,000 results of multi-gene …

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Permanent link to this article: https://inheritedcancer.net/2nls2017/

ICARE Newsletter Winter 2017

A Newly Identified Inherited Colon Cancer Gene: FAN1

There continues to be rapid advances in identifying new genes involved in inherited cancer risk.  An example of yet another recently identified gene is FAN1, in which a nonsense variant (i.e. the premature change or loss of a protein) was identified following exome sequencing in 3 individuals from a family who met clinical criteria for …

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Permanent link to this article: https://inheritedcancer.net/4nlw2017/

ICARE Newsletter Summer 2016

An Approach to Making Risk Management Recommendations for Newer Inherited Cancer Genes

A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than ‘high’) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …

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Permanent link to this article: https://inheritedcancer.net/3nls2016/

ICARE Newsletter Winter 2016

What Is the Risk for Ovarian Cancer Among Women with Mutations in Newer Ovarian Cancer Genes?

The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively.  Another set of genes known to raise ovarian cancer risks are the mismatch …

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Permanent link to this article: https://inheritedcancer.net/2nlw2016/

ICARE Newsletter Summer 2015

The Rapid Pace of Discovering More Inherited Cancer Genes Continues

Over the last few months, a number of additional genes associated with inherited cancer predisposition have been identified. A few of these genes include: 1) the RECQL gene which appears to be another rare gene involved in inherited breast cancer1; 2) the SMAD9 gene associated with hamartomatous polyposis and ganglioneuromas of the intestinal tract2; 3) …

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Permanent link to this article: https://inheritedcancer.net/2nls2015/

ICARE Newsletter Winter 2015

Discovery of New Colorectal Cancer Genes

New inherited cancer genes continue to be discovered with the exciting advances made possible through next-generation sequencing technologies. Recent studies identified that the POL genes predispose to inherited colorectal cancer.1,2,3 In one study, Niemenen and colleagues studied a four-generation family with Lynch Syndrome with no evidence of mismatch repair deficiency.2 Through various means (including genetic …

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Permanent link to this article: https://inheritedcancer.net/4nlw2015/