Germline and Somatic Variants: What Is the Difference?

Cancers caused by germline pathogenic variants are called inherited or hereditary. More than 50 different hereditary cancer syndromes have been identified that can be passed from one generation to the next e.g. Lynch Syndrome

https://voice.ons.org/news-and-views/germline-and-somatic-variants-what-is-the-difference

Have you been diagnosed with Lynch syndrome?

FORCE(USA) has compiled resources and information to help people make informed decisions and receive support.

People diagnosed with Lynch syndrome have an increased risk for colorectal, endometrial and other cancers. Options are available for cancer treatment, screening and prevention for people with Lynch syndrome.

https://www.facingourrisk.org/portal/people-with-lynch-syndrome

ThisisGO.ie

Another brilliant resource now available for women living with/beyond and with a predisposition to cancer.

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-400 women are diagnosed with Uterine cancer every year. 70-80% diagnosed are living with obesity.

Log on to https://thisisgo.ie/?fbclid=IwAR13F4M_K4vkAjBjD__7C7zDvxQdpgWuSW-IQnmA3JX9LePG9QDh9qay_X8 for accurate info.

Two Fellows Use Online Resources to Boost Genetic Testing

The most commonly cited barriers to testing are lack of awareness, difficulty of access, and cost(USA)….despite known benefits, uptake for genetic testing has been slow: only 1 in 5 individuals use recommended genetic services even when there is a significant family history of colorectal, breast, or ovarian cancer.

Early detection of hereditary cancers and subsequent medical or surgical intervention decreases mortality, therefore this missed opportunity means an immense loss of lives.

https://www.onclive.com/view/two-fellows-use-online-resources-to-boost-genetic-testing

Lynch Syndrome: A Common Yet Under-Recognized Hereditary Cancer Predisposition

https://www.aboutgeneticcounselors.org/Resources-to-Help-You/Post/lynch-syndrome-a-common-yet-under-recognized-hereditary-cancer-predisposition

Lynch syndrome is the most common inherited predisposition to colorectal and endometrial (uterine) cancers, yet is it under-diagnosed. Around 90-95% of people who have Lynch syndrome are not aware of their condition.

This is a major concern because many of the cancers associated with Lynch syndrome are preventable or could be detected earlier through intensive cancer surveillance. Identifying patients with Lynch syndrome also helps with testing other members of their family who may be at risk and helps ensure access to care for patients who have high risks for cancer.

Keeping Patients Up to Date After Genetic Testing

“A patient can have the most thorough and accurate genetic testing available, but if that information is not integrated into their health care, that testing is meaningless. Or worse, if that testing is not interpreted correctly, it can be harmful”

Should children be Tested for Hereditary Syndromes?

“It is generally not a good idea to genetically test minor children for hereditary cancer syndromes, such as Lynch syndrome or BRCA, unless their family medical history warrants it.”

https://www.curetoday.com/view/should-children-be-tested-for-hereditary-cancer-syndromes-?fbclid=IwAR12H4WIHzF5Y-FbmD-9wOOSfzoTKMqZSFO6NQtfxlYLPnuXLJ-Z-CTnBYw

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