Table 2.

The presence of multiple red flags in the medical and/or family history increases concern for an underlying DNA repair disorder and should warrant further evaluation.

	“Red flags”
Constitutional features	Short stature Microcephaly Sparse or premature gray hair
Skin	Photosensitivity Pigmentation changes (hypo/hyperpigmentation) Poikiloderma Café-au-lait spots Teleangiectasias Pilomatricoma/pilomatrixoma (benign, hair follicle associated tumor) Butterfly shaped facial skin rash
Neurologic	Intellectual disabilities Hyporeflexia Loss of fine or gross motor skills Ataxia
Immunodeficiency	Recurrent sinopulmonary infections Hypogammaglobulinemia T and B lymphocytopenia
Hematologic	Bone marrow failure
Cancers	Pediatric cancers including head and neck, brain, squamous cell carcinoma, melanoma, adrenocortical carcinoma, NHL, MDS, AML Family member with cancer below age 50, especially if of breast, endometrial, or colorectal origin 2 or more cancers in one individual/family Multiple family members with similar or related cancers