Oncofertility in adolescent and young adult hereditary cancer: Considerations for genetics professionals

Table 1 Prevalent adolescents and young adults hereditary cancer syndromes

Syndrome	Description	Genetic Testing recommendations
HBOC	Breast cancer or breast and ovarian cancers among multiple family members	Testing for BRCA1 and BRCA2
LFS	Increases risk for many cancers including sarcoma, breast, brain, lymphoma, lung, and others	Testing for p53
Retinoblastoma	Intraocular tumors (not always hereditary); nonocular tumors common in hereditary retinoblastoma	Testing for RB1
MEN and FMTC	Increases risk of endocrine tumors; FMTC is a common type of MEN	Testing for MEN1, RET, and CDKN1B
Lynch syndrome	Increases risk for colorectal cancer	Testing for MLH1, MSH2, MSH6, PMS2, or EPCAM
FAP	Increases risk for colorectal cancer; existence of multiple adenomas is passed down within family members	Testing for APC and MUTYH
Cowden Syndrome	Increased risk for breast, thyroid, endometrial (uterine lining), and other cancers	Testing for PTEN
Von Hippel - Lindau Syndrome	Increased risk for kidney cancer and multiple noncancerous tumors, including pheochromocytoma	Testing for VHL
Familial Melanoma	Increased risk for malignant melanoma and pancreatic cancers	CDK2NA and CDK4

HBOC: Hereditary breast and ovarian cancer; LFS: Li-fraumeni syndrome; MEN: Multiple endocrine neoplasia; FMTC: Familial medullary thyroid carcinoma; FAP: Familial adenomatous polyposis.

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 diagnosis	Genetic 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.

AYA: Adolescents and young adults.