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Table 3 Clinical information and summary of personal and family histories of mutation carriers

From: Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

Index patient identifier Variant Personal history (age at diagnosis in years) Immunohistochemistry (if available) Family history of cancer (age at diagnosis in years) Conformance to LFS/LFL criteriaa
7 PALB2:p.(Arg170Ilefs*14) BC (40) 1. TNBC Mat. – M: BC (40) Eeles
Pat. – F: leukemia (< 50), GM: esophagus (60) Chompret 2008
Chompret 2009
30 RUNX1:c.97+1G>A BC (33) N/A Mat. – M: BC (56), GM: BC (60) Chompret 2008
32 ATM exon 62–63 del BC bilateral (30 + 40) 1. Triple-positive
2. Triple-positive
Mat. – M: OvCa (51), half-S: BC (41) + lung (46), U: leukemia (45), GM: cancer, GF: cancer Eeles
orig. Chompret
Chompret 2008
Chompret 2009
Chompret 2015
40 ATM:p.(Cys2931*) BC (39) N/A Mat. – M: OvCa (40), A: leukemia (20) Eeles
CHEK2 exon 9–10 del Chompret 2008
Chompret 2009
58 CDKN2A:p.(Arg98*) BC (32) HER2+ Mat. – GM: ureter (64) Chompret 2008
RECQL4:c.1390+1G>C Pat. – GF: hypopharynx (62)
59 WRN exon 15–16 del BC (32) N/A Mat. – half-S: melanoma (46), GF: lung (64), GM: CRC (50), GGM: CRC (59), U: kidney (60), this U’s sons: melanoma (45), basalioma (36) Eeles
orig. Chompret
Chompret 2008
Pat. – U: brain (25), 10 Us/As: all died of cancer at a young age Chompret 2009
Chompret 2015
Birch
60 ATM:p.(Glu1978*) BC (40) HR+ Mat. – M: BC (51), GM: BC (73) Eeles
Pat. – F: glioblastoma (42) Chompret 2008
Chompret 2009
Chompret 2015
65 FANCI:p.(Arg1285*) BC (30) HER2+ Mat. – U: CRC (37), GF: CRC (70), GGM: cancer Chompret 2008
PMS2 exon 3–8 del Pat. – GF: esophagus (74) Chompret 2015
76 PALB2:p.(Gln60Argfs*7) BC bilateral (33 + 39) 1. HR+ lobular
2. HR+ (HER2+ in metastases)
B: lung (43) Eeles
Mat. – M: pancreas (58), A: melanoma (67) orig. Chompret
Chompret 2008
Chompret 2009
79 RECQL4:p.(Ala919Thr) BC (27) HR+ Mat. – M: NHL (42), GF: bladder (54) Chompret 2008
Pat. – GM: BC (53), GU: lymphoma (52), GA: BC (57), this GA’s daughter: BC (47) Chompret 2015
  1. Abbreviations: A Aunt, B Brother, BC Breast cancer, CRC Colorectal cancer, del Deletion, F Father, GA Grand aunt, GF Grandfather, GGM Great grandmother, GM Grandmother, GU Grand uncle, HER2+ HER2 (ERBB2) overexpression/amplification, HR+ Hormone receptor-positive, M Mother, Mat. Maternal, N/A Not accessible, Ne Nephew, NHL Non-Hodgkin lymphoma, Ni Niece, OvCa Ovarian cancer, Pat. Paternal, S Sister, TNBC Triple-negative breast cancer, U Uncle
  2. aInformation about Li-Fraumeni and Li-Fraumeni-like criteria definition are given in Additional file 2