Table 3.

Allelic Disorders

GeneMOIDisorder
BRCA1 ADHereditary breast & ovarian cancer (See BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.)
Pancreatic cancer (OMIM 613347 & 614320)
Prostate cancer (OMIM 176807)
BRCA2 AD
BRIP1 ADBreast cancer & ovarian cancer predisposition (OMIM 605882 & OMIM 167000)
ERCC4 AR Xeroderma pigmentosum
ARIndividuals reported w/phenotypes of Fanconi anemia, xeroderma pigmentosum (XP)/Cockayne Syndrome (CS) complex or w/combined XP/CS/Fanconi anemia (OMIM 278760)
ARXFE progeroid syndrome (OMIM 610965)
FANCA ADBreast cancer & ovarian cancer predisposition [Del Valle et al 2020]
FANCM ARSpermatogenic failure; premature ovarian failure (OMIM 618086 & 618096)
PALB2 ADBreast cancer & ovarian cancer predisposition (OMIM 114480)
ADPancreatic cancer predisposition (OMIM 613348)
RAD51 AD Congenital mirror movements
RAD51C ADBreast cancer & ovarian cancer susceptibility (OMIM 613399)
XRCC2 ARSpermatogenic failure; premature ovarian failure (OMIM 619145 & 619146)

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance

From: Fanconi Anemia

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