Li-Fraumeni Syndrome (LFS)

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome with an increased risk to develop (most notably) soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, and adrenocortical carcinoma (ACC). Classic LFS and Li-Fraumeni Like (LFL) syndrome are defined based upon the presence of these hallmark tumors in the proband and family members at early ages of onset, as noted in the table in the Information Sheet. Those individuals with isolated breast cancer diagnosed at an early age in the absence of a family history suggestive of LFS or LFL rarely have a mutation identified in the TP53 gene (Gonzalez et al., 2009; Ginsburg et al., 2009).

Tests Available

Forms and Documents

Test Details

TP53
  • Confirmation of a clinical diagnosis
  • Differentiation between hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2 genes)
  • Identification of family members at-risk to develop cancers related to LFS
  • To determine an appropriate surveillance and treatment protocol
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing

Ordering

559
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81405x1
No
Yes
  • 191 Malignant neoplasm of brain Excludes: cranial nerves (192.0) retrobulbar area (190.1)
  • 171 Malignant neoplasm of connective and other soft tissue Includes: blood vessel bursa fascia fat ligament, except uterine muscle peripheral, sympathetic, and parasympathetic nerves and ganglia synovia tendon (sheath) Excludes: cartilage (of): articular (170.0-170.9) larynx (161.3) nose (160.0) connective tissue: breast (174.0-175.9) internal organs code to malignant neoplasm of the site [e.g., leiomyosarcoma of stomach, 151.9] heart (164.1) uterine ligament (183.4)
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 194 Malignant neoplasm of other endocrine glands and related structures Excludes: islets of Langerhans (157.4) neuroendocrine tumors (209.00-209.69) ovary (183.0) testis (186.0-186.9) thymus (164.0)
* For price inquiries please email zebras@genedx.com

References

  1. Birch et al., (1994) Cancer Res 54 :1298-1304.
  2. Bougeard et al., (2003) Oncogene 22:840-846.
  3. Eeles et al., (1995) Cancer Surv 25 :101-124.
  4. Ginsburg et al., (2009) Fam Cancer 8:563-567.
  5. Gonzalez et al., (2009) J Clin Oncol 27:1250-1256.
  6. Gonzalez et al., (2009) J Med Genet 46 :689-693.
  7. Li et al., (1988) Cancer Res 48:5358-5362.
  8. Tinat et al., (2009) J Clin Oncol 27(26):e108-e109.
  9. Varley et al., (2003) Hum Mutat 21:313-320.

Forms and Documents

Test Details

TP53
  • An individual with a personal history and family history of tumors associated with Li-Fraumeni syndrome (LFS), such as soft tissue sarcoma, osteosarcoma, brain tumors, breast cancer, adrenocortical carcinoma, etc., particularly if at least one is early-onset
  • An individual with multiple primary cancers within the LFS-tumor spectrum, particularly if at least one is early-onset
  • An individual with a personal history of a rare LFS-associated tumor, such as an adrenocortical carcinoma, choroid plexus carcinoma, rhabdomyosarcoma of embryonal anaplastic subtype, etc., regardless of age
  • An individual with breast cancer diagnosed at age 30 or younger
  • An unaffected individual with a family history suggestive of LFS (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • Exon Array CGH

Ordering

718
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81405x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Birch et al., (1994) Cancer Res 54 :1298-1304.
  2. Bougeard et al., (2003) Oncogene 22:840-846.
  3. Eeles et al., (1995) Cancer Surv 25 :101-124.
  4. Ginsburg et al., (2009) Fam Cancer 8:563-567.
  5. Gonzalez et al., (2009) J Clin Oncol 27:1250-1256.
  6. Gonzalez et al., (2009) J Med Genet 46 :689-693.
  7. Li et al., (1988) Cancer Res 48:5358-5362.
  8. Tinat et al., (2009) J Clin Oncol 27(26):e108-e109.
  9. Varley et al., (2003) Hum Mutat 21:313-320.