A new study, which included ICARE-related efforts through including BEST study participants:▪️ Identified 12 breast cancer genes that may help to predict breast cancer risk▪️ Included more than 40,000 women of African ancestry, almost half of which had breast cancer Why is studying individuals from diverse ancestral backgrounds important?▪️ Refine risks across diverse populations▪️ A …
Permanent link to this article: https://inheritedcancer.net/post72524/
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 …
Permanent link to this article: https://inheritedcancer.net/post12420/
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 …
Permanent link to this article: https://inheritedcancer.net/post12120/
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 …
Permanent link to this article: https://inheritedcancer.net/post1920/
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, …
Permanent link to this article: https://inheritedcancer.net/13nlw2019/
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 …
Permanent link to this article: https://inheritedcancer.net/6nls2018/
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 …
Permanent link to this article: https://inheritedcancer.net/7nls2018/
Permanent link to this article: https://inheritedcancer.net/2nls2017/
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 …
Permanent link to this article: https://inheritedcancer.net/4nlw2017/
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 …
Permanent link to this article: https://inheritedcancer.net/3nls2016/
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 …
Permanent link to this article: https://inheritedcancer.net/2nlw2016/
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) …
Permanent link to this article: https://inheritedcancer.net/2nls2015/
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 …
Permanent link to this article: https://inheritedcancer.net/4nlw2015/
