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Collection of a Cancer Family History

Collection of a cancer family history is crucial to the identification of those individuals who have an inherited predisposition to malignancy or who are at increased risk for additional primary cancers. The goal of the cancer family history is to provide enough information to make a preliminary determination of the risk of a familial predisposition and to develop a preliminary management plan.

The cancer family history should be taken at the first visit with the oncology provider and should be updated periodically. ASCO recommends the minimum adequate family history for cancer patients be defined as family history of cancer in first- and second-degree relatives. First-degree relatives are parents, children, and full siblings; second-degree relatives are grandparents, aunts/uncles, nieces/nephews, grandchildren, and half-siblings. For each relative with cancer, ASCO recommends the following be recorded:

  • Type of primary cancer(s)
  • Age at diagnosis of each primary cancer
  • Lineage (maternal or paternal)

Patients should be asked if there is a known hereditary cancer predisposition syndrome, prior genetic testing, and for any information regarding ethnicity that may be relevant. Patients with cancer should be specifically asked if they have any Jewish ancestry on either the maternal or paternal side, and if so, a much lower threshold for testing should be adopted. Exploring both maternal and paternal lineage is important, as genetic predisposition can be transmitted from either side of the family. 

See Also: ASCO Statement on Family History Taking in the Oncology Setting 

Cancers for Which Genetic Counseling and Testing Should be Considered, Even in the Absence of Family History

Emerging research suggests that individuals with specific tumor types should be considered for genetic testing regardless of family history. A clinically important proportion of these tumors are caused by germline susceptibility genes, and prevention interventions are available that impact cancer risk in the patient and his or her relatives. For this reason, individuals with these tumor types should be referred for genetic counseling and possible genetic testing regardless of family history. Some of the more common cancer types in this category are detailed below:

Common Adult Cancers

Tumor Diagnosis Genetic Loci
Triple negative (ER/PR/Her2neu negative) breast cancer, particularly if diagnosed under age 60 BRCA1/BRCA2
Epithelial ovarian cancer, fallopian tube cancer, or primary peritoneal cancer (most commonly, high grade serous histology) BRCA1/BRCA2
Colorectal cancer demonstrating ismatch repair deficiency (via tumor studies including microsatelite instability analysis and/or immunohistochemistry, excluding known somatic causes including hypermethylation of MLH1 promoter and somatic BRAF mutation) MLH1/MSH2/MSH6/PMS2/EPCAM
Endometiral cancer demonstrating mismatch repair deficiency (via tumor studies including microsatelite instability analysis and/or immunohistochemistry, excluding known somatic causes including hypermethylation of MLH1 promoter) MLH1/MSH2/MSH6/PMS2

Rare Cancers

Tumor Diagnosis Genetic Loci
Adrenocortical carcinoma, choroid plexus carcinoma TP53
Phenochromocytoma, paraganglioma VHL, RET, Multiple SDH Loci
Tetinal or cerebellar hemangioblastoma, endolymphatic sac tumor VHL
Medullary thyroid cancer RET

Pediatric Cancers

Tumor Diagnosis Genetic Loci
Retinoblastoma RB1
Optic patheway tumor, malignant peripheral nerve sheath tumor, Juvenile Myelomonocytic Leukemia NF1
Atypiical teratoid/rhabdoid tumor INI1/SMARCB1
Acoustic or vestibular schwannomas NF2
Multiple gastrointestinal polyps BMPR1A, SMAD4, EPCAM, MLH1, MSH2, MSH6, PNS2, PTEN, APC, STK11, MYH

Content taken from Table 2 of the ASCO expert Statement: Collection & Utilization of a Cancer Family History for Oncology Providers (Luetal, 2014).

In addition to the above, testing should be done for the following common adult cancers, even in the absence of family history:

  • Breast Cancer dx < age 30-35 (TP53)
  • Breast Cancer dx < age 45 (BRCA1/2)
  • Any man with breast cancer (BRCA1/2)
  • Ashkenazi Jewish individuals with breast cancer (any age) or pancreatic cancer (any age) (BRCA1/2)
  • Colorectal cancer or endometrial cancer dx < age 50 (Lynch genes)
  • the same individual with >2 of the following cancers diagnosed any age (Lynch genes): colorectal, endometrial, stomach, ovarian, pancreas, ureter and renal pelvis, biliary tract, and brain tumor tumors, sebaceous gland adenomas, keratoacanthomas and carcinoma of the small bowel

Comments or Questions? Please contact us at Prevention@asco.org

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