Background
The PALB2 gene, also known as the FANCN gene, was identified as a breast cancer risk gene on chromosome 16 in 2007 (Rahman 2007). Deleterious germline mutations in PALB2 are primarily associated with an increased risk of breast cancer (Rahman 2007; Antoniou 2014). They have also been associated with an increased risk of pancreatic cancer (Jones 2009; Tischkowitz 2009).
Individuals with biallelic (homozygous or compound heterozygous) mutations in PALB2 can present with Fanconi anemia, an autosomal recessive disorder characterized by physical abnormalities, bone marrow failure, and an increased risk for malignancy such as solid tumors (Reid 2007).
Affected Phenotypes Included in Penetrance Model - PALB2 penetrance model coming soon
Breast Cancer (male and female)
(Pancreatic Cancer - TBD)
Note: Cancers other than breast cancer (and pancreatic cancer, TBD) are not included in this model.
Coding the Pedigree
Code affected individuals in column 5 of the Excel or plain text file used to build your pedigree.
- Code "2" (affected) for individuals with breast cancer.
- Code "1" (unaffected) for individuals who have not had breast cancer. Individuals who have only had pancreatic cancer(?) should be coded as "1."
- Code "0" for individuals with uncertain or unknown affected status.
More information on formatting pedigrees can be found here.
References
- Rahman N, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007, 39:165. PMID: 17200668
- Antoniou AC, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014, 371:497. PMID: 25099575
- Jones S, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009, 324:217. PMID: 19264984
- Tischkowitz MD, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology. 2009, 137:1183. PMID: 19635604
- Reid S, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007, 39:162. PMID: 17200671
