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June 24, 2024




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Astle & Hepworth
Hereditary Thyroid Cancer
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Do you know this woman?
Familial Medullary Thyroid Cancer (FMTC)
Where did it come from?

In 1968, at the age of 67, Clara Pearl Astle Carling was diagnosed with Medullary Thyroid Carcinoma. With the assistance of Dr. Devaprabu Abraham at the University of Utah, it was later found that this uncommon form of thyroid cancer was caused from a genetic variant. Over the course of many years, several of her children developed the same type of thyroid cancer.

Fast forwarding to recent years, several of Grace Emily Astle Frank's children were also diagnosed with the same Medullary Thyroid Cancer. Since Pearl and Grace are sisters, it became readily apparent that this gene was passed to them from either their father, John Francis Astle, or their mother, Lauretta Hepworth Astle.

John and Lauretta Astle had a total of thirteen children. Of those children, only eight went on to have children of their own. At this point in time, we know that three of these eight children were affected by this genetic variant (John Francis Astle Jr, Clara Pearl Astle Carling, and Grace Emily Astle Frank).

While there is much to be learned, we do know that nearly twenty immediate descendants of Clara and Grace have been diagnosed with this same cancer. Many others who have been found to carry this same genetic variant have had their thyroids removed to avoid development of this cancer. This genetic variant is also associated with hyperparathyroidism (identified in the John Francis Astle Jr line), pheochromocytoma, and other endocrine disorders.

Below is a consolidated pedigree chart. If you are a descendant of any one of these individuals and are aware of a diagnosis anywhere in their posterity of Medullary Thyroid Cancer, we would appreciate you reaching out.

Medullary Thyroid Cancer Pedigree

If you have knowledge of thyroid cancer or parathyroid disease occurring in the descendants of any of the following people, please contact us to help further the research on Familial Medullary Thyroid Cancer.

DNA Variant
Classification: Pathogenic
Gene: RET (REarranged during Transfection)
Nucleic Acid Change: c.1826G>A; Heterozygous
Amino Acid Alteration: p.Cys609Tyr

Invitae offers a low cost option to test for this mutation. If positive, other immediate family members can also be tested for free.

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