NIH Clinical Center logo     America's Clinical Research Hospital File folder iconExplore the NIH
Clinical Center
Search the Studies - NIH Clinical Research Studies

Protocol Details

Multidisciplinary Etiologic Study of Familial Testicular Cancer

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 12
Max Age: 100

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Familial Testicular Germ Cell Tumor

Recruitment Keyword(s)

Testicular Cancer


Testicular Cancer

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Cancer Institute


People with a family history of testicular cancer may be at increased risk for the disease.

Genetic and clinical studies of patients with testicular cancer and their family members may help clarify the cause of the disease and identify clinical features.


To characterize the clinical features of testicular cancer.

To identify genes that may lead to increased risk of the disease.

To examine emotional and behavioral issues of members of families at increased risk of the disease.


Males and females from a family with at least two cases of testicular cancer in blood relatives.

Males with testicular cancer in both testicles.

Males with testicular cancer who have an identical twin.

Participants must be at least 12 years of age.


Participants may take part in Part 1 or Parts 1 and 2 of this 2-part study.

Part 1 participants:

-Provide a blood or cheek cell sample to obtain DNA for gene studies.

-Provide permission for researchers to obtain their medical records for review.

-Complete questionnaires about their personal and family medical history, exposure to factors that might influence the risk of testicular cancer, and their feelings about being a member of a family in which several members have testicular cancer.

-These data are collected from participants in their home communities.

Part 2 participants:

-All participants provide a medical history, have a complete physical examination, including routine lab tests, and have an ultrasound test of the abdomen to look at the kidneys.

-Males have an ultrasound test of the testicles and scrotum.

-Females have an ultrasound test of the pelvis to look at the ovaries, uterus and fallopian tubes.

-Males 18 years of age and older provide a semen sample.

-Some participants have computed tomography (CT) scanning of the chest, abdomen and pelvis instead of kidney ultrasound. Children under 18 years of age may have magnetic resonance imaging (MRI) instead of CT.

-These data are collected from participants during a 2-day visit to the NIH Clinical Center in Bethesda, MD. Travel costs are covered by the protocol.

--Back to Top--



Study population:

Patients must be members of families with familial TGCT as defined below.

Definition of familial TGCT:

The criterion establishing familial TGCT is the presence of:

-at least two cases of documented GCT in blood relatives (at least one of which is testicular in origin),


-a single family member with bilateral testicular cancer,

-men with a history of TGCT who are one in a set of identical siblings will also be included in the study.

Case definition:

A case will be determined to have TGCT according to the following criteria:

-Pathologic confirmation of a germ cell derived tumor arising in the testis. Extragonadal germ cell tumors will also be included.

-Germ cell derived histologies including: seminoma, germinoma, embryonal carcinoma, endodermal sinus (yolk sac) tumor, gonadoblastoma, choriocarcinoma, teratoma, and mixed germ cell tumor.

-A case will be determined to have TIN on the basis of pathologic confirmation of intratubular malignant germ cells (ITMGCs) as defined by Burke and Mostofi.

Individuals from participating families who are eligible for this study include:

i) all TGCT cases;

ii) All GCT cases (including those of ovarian or extra-gonadal sites);

iii) all first-degree relatives of each TGCT case;

iv) the spouse(s) of every case if the spouse and case had children who are participating in the study;

v) any blood relative not included in (ii - iii) above who genetically links two cases; and

vi) any blood relative with cancer other than TGCT

vii) family members as described in i) - v) above must be age 12 or greater in order to participate


Families will be deemed ineligible for participation in this study if:

There are not at least two proven cases of GCT in the family, one of which is testicular in origin, unless there is a family member with bilateral testicular cancer;

Deceased TGCT cases lacking both archival sources of tissue for DNA extraction AND lacking surviving spouses and children who are willing to paricipate in the study (unavailability of such persons prohibits inferring the genotype of the deceased individual with TGCT).

Critical informative family members are unwilling to participate (i.e., unwilling to provide written informed consent);

--Back to Top--


Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14.

Chung CC, Kanetsky PA, Wang Z, Hildebrandt MA, Koster R, Skotheim RI, Kratz CP, Turnbull C, Cortessis VK, Bakken AC, Bishop DT, Cook MB, Erickson RL, Foss(SqrRoot)(Bullet) SD, Jacobs KB, Korde LA, Kraggerud SM, Lothe RA, Loud JT, Rahman N, Skinner EC, Thomas DC, Wu X, Yeager M, Schumacher FR, Greene MH, Schwartz SM, McGlynn KA, Chanock SJ, Nathanson KL. Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nat Genet. 2013 Jun;45(6):680-5. doi: 10.1038/ng.2634. Epub 2013 May 12.

Schumacher FR, Wang Z, Skotheim RI, Koster R, Chung CC, Hildebrandt MA, Kratz CP, Bakken AC, Bishop DT, Cook MB, Erickson RL, Foss(SqrRoot)(Bullet) SD, Greene MH, Jacobs KB, Kanetsky PA, Kolonel LN, Loud JT, Korde LA, Le Marchand L, Lewinger JP, Lothe RA, Pike MC, Rahman N, Rubertone MV, Schwartz SM, Siegmund KD, Skinner EC, Turnbull C, Van Den Berg DJ, Wu X, Yeager M, Nathanson KL, Chanock SJ, Cortessis VK, McGlynn KA. Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23. Hum Mol Genet. 2013 Jul 1;22(13):2748-53. doi: 10.1093/hmg/ddt109. Epub 2013 Mar 5.

--Back to Top--


Principal Investigator

Referral Contact

For more information:

Jennifer T. Loud, C.R.N.P.
National Cancer Institute (NCI)
BG 9609 RM 6E536
(301) 594-7642

Jennifer T. Loud, C.R.N.P.
National Cancer Institute (NCI)
BG 9609 RM 6E536
(301) 594-7642

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office

Clinical Trials Number:


--Back to Top--


Contact the Patient Recruitment and Public Liaison Office for:

  • Details on how to participate in a study
  • Details on how to refer a patient to a study

NIH Clinical Studies Information Request

Contact the Office of Communications for:

  • General information about the NIH Clinical Center

Contact the Department Clinical Research Informatics, (DCRI) for:

  • Technical questions about Adobe Acrobat and the PDF format
  • Technical questions about this web server