Copyright ©The Author(s) 2015.
World J Med Genet. Nov 27, 2015; 5(4): 52-59
Published online Nov 27, 2015. doi: 10.5496/wjmg.v5.i4.52
Table 1 Prevalent adolescents and young adults hereditary cancer syndromes
SyndromeDescriptionGenetic Testing recommendations
HBOCBreast cancer or breast and ovarian cancers among multiple family membersTesting for BRCA1 and BRCA2
LFSIncreases risk for many cancers including sarcoma, breast, brain, lymphoma, lung, and othersTesting for p53
RetinoblastomaIntraocular tumors (not always hereditary); nonocular tumors common in hereditary retinoblastomaTesting for RB1
MEN and FMTCIncreases risk of endocrine tumors; FMTC is a common type of MENTesting for MEN1, RET, and CDKN1B
Lynch syndromeIncreases risk for colorectal cancerTesting for MLH1, MSH2, MSH6, PMS2, or EPCAM
FAPIncreases risk for colorectal cancer; existence of multiple adenomas is passed down within family membersTesting for APC and MUTYH
Cowden SyndromeIncreased risk for breast, thyroid, endometrial (uterine lining), and other cancersTesting for PTEN
Von Hippel - Lindau SyndromeIncreased risk for kidney cancer and multiple noncancerous tumors, including pheochromocytomaTesting for VHL
Familial MelanomaIncreased risk for malignant melanoma and pancreatic cancersCDK2NA and CDK4
Table 2 Hereditary breast and ovarian cancer syndrome pre and post treatment options with reproductive implications
Genetic counseling needs for AYAs with a new cancer diagnosisGenetic counseling needs for AYA cancer survivors
Surgical treatment (e.g., contralateral prophylactic mastectomy at the time of initial diagnosis for BRCA carriers)Risk reduction surgeries post treatment (e.g., salpingectomy vs bilateral salpingo oophorectomy for BRCA carriers)
Chemotherapy (e.g., clinical trials focused on poly ADP ribose polymerase inhibitors for BRCA carriers)Use of Tamoxifen for management of disease recurrence among ER + BRCA carriers.