“Whoa! It’s like Spotify but for academic articles.”

Instant Access to Thousands of Journals for just $40/month

Try 2 weeks free now

A novel germline point mutation, c.2304 G→T, in codon 768 of the RET proto‐oncogene in a patient with medullary thyroid carcinoma

<h5>To the Editor:</h5> Medullary thyroid carcinoma (MTC) is a neoplasm of the C cells of the thyroid and represents 10–15% of all thyroid carcinomas. MTC is sporadic in 75% of all presentations and hereditary in 25% of cases. Hereditary MTC is well defined: germline gain‐of‐function mutations in the RET proto‐oncogene cause multiple endocrine neoplasia type 2 (MEN 2) which is decided into MEN 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC) [Takahashi and Cooper, 1987 ]. As of 1996, germline mutations in exons 10, 11, and 13–16 of the RET proto‐oncogene have been described in 92% of MEN 2 cases [Eng et al., 1996 ]. The E768D mutation (c.2304 G → C [Antonarakis, 1998 ]) of the RET proto‐oncogene was identified for the first time in 1995 in a multigenerational family affected by FMTC [Eng et al., 1995 ]. Later, this same mutation was identified in other families with FMTC unrelated to the family in which it was initially described [Bolino et al., 1995 ; Boccia et al., 1997 ; Miyauchi et al., 1997 ]. It is interesting to note that the same mutation was identified in the tumor‐derived DNA in patients affected by sporadic MTC, supporting http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Loading next page...

You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy unlimited access and
personalized recommendations from
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $40/month

Try 2 weeks free now

Explore the DeepDyve Library

How DeepDyve Works

Spend time researching, not time worrying you’re buying articles that might not be useful.

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from Springer, Elsevier, Nature, IEEE, Wiley-Blackwell and more.

All the latest content is available, no embargo periods.

See the journals in your area

Simple and Affordable Pricing

14-day free trial. Cancel anytime, with a 30-day money-back guarantee.

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Best Deal — 25% off

Annual Plan

  • All the features of the Professional Plan, but for 25% off!
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

billed annually