|| Fanconi anemia, complementation group N
|| 3 to 5 fold increase in relative risk for breast cancer
|| common in clinvar
rs180177102, also known as c.1592delT and p.Leu531Cysfs, is a mutation in the PALB2 gene on chromosome 16.
The deletion variant, rs180177102(-), has been found in a 2015 meta-analysis to lead to a combined increased relative risk for breast cancer of 5.3 (CI: 3.0 to 9.4).[PMID 26250988]
A 2016 publication study involving 42,000 breast cancer cases concluded that rs180177102(-) carriers had an odds ratio of 3.44 (CI:1.4-8.5; p=7.1×10e-5) and a 40% (CI: 18-77%) chance of developing the disease by age 70.10.1136/jmedgenet-2016-103839
This mutation appears to be renamed i4000488 by 23andMe.
[PMID 17287723] A recurrent mutation in PALB2 in Finnish cancer families.
[PMID 18628482] Penetrance analysis of the PALB2 c.1592delT founder mutation.
[PMID 19383810] The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype.