Open AccessChallenges in Interpreting Germline Mutations in BARD 1 and ATM in Breast and Ovarian Cancer Patients
Author(s) -
DeLeonardis Kimberly,
Sedgwick Kristin,
Voznesensky Olga,
Matloff Ellen,
Hofstatter Erin,
Balk Steven,
Tung Nadine
Publication year - 2017
Publication title -
the breast journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.533
H-Index - 72
eISSN - 1524-4741
pISSN - 1075-122X
DOI - 10.1111/tbj.12764
Subject(s) - germline , germline mutation , medicine , ovarian cancer , breast cancer , loss of heterozygosity , penetrance , mutation , cancer , genetics , fallopian tube cancer , oncology , gene , cancer research , biology , phenotype , allele
Next‐generation sequencing promotes identification of mutations in non‐ BRCA 1/2 genes in hereditary cancer families. The contribution of mutations in moderate penetrance genes to hereditary cancer risk is not well established. Here, we report a family with early onset breast and fallopian tube cancer that was identified as carrying germline mutations in BARD 1 and ATM genes. Loss of heterozygosity studies suggest a causative role of the BARD 1 mutation in the development of primary peritoneal cancer, but fail to confirm an association between germline ATM mutations and breast cancer development in this family. Complexities in interpreting implications of mutations in moderate‐risk cancer susceptibility genes are discussed.