Table 1 Summary of the 48 prospective BC or gynecological cancer patients included in the study
From: Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Patient_ID | Institution | Familial path_BRCA1 or path_BRCA2 variantFamilial path_BRCA1 or path_BRCA2 variant | ICD9 diagnosis (age) | Pathogenic variant identified in the current study |
|---|---|---|---|---|
17,161 | HCBNRH | BRCA2 c.5217_5223delTTTAAGT (p.Tyr1739Terfs)BRCA2 c.5217_5223delTTTAAGT (p.Tyr1739Terfs) | OC (67) | ATM c.468G > A (p.Trp156Ter)*ATM c.468G > A (p.Trp156Ter)* |
6475 | HCBNRH | BRCA1 c.1011dupA (p.Val340Glyfs)BRCA1 c.1011dupA (p.Val340Glyfs) | BC (52) | ATM c.9139C > T (p.Arg3047Ter)ATM c.9139C > T (p.Arg3047Ter) |
13,141 | HCBNRH | BRCA1 c.1072delC (p.Leu358Cysfs)BRCA1 c.1072delC (p.Leu358Cysfs) | EC (57) | MSH6 c.2864delC (p.Thr955fs)*MSH6 c.2864delC (p.Thr955fs)* |
1873 | HCBNRH | BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) | MTHM (56), BC (70) | Not |
5378 | HCBNRH | BRCA1 c.697_698delGT (p.Val233Asnfs)BRCA1 c.697_698delGT (p.Val233Asnfs) | BC (52) | Not |
5180 | HCBNRH | BRCA1 c.5194-2A > CBRCA1 c.5194-2A > C | BC (39) | Not |
22 | HCBNRH | BRCA2 c.3847_3848delGT (p.Val1283Lysfs)BRCA2 c.3847_3848delGT (p.Val1283Lysfs) | BC (63) | Not |
243 | HCBNRH | BRCA2 c.3847_3848delGT (p.Val1283Lysfs)BRCA2 c.3847_3848delGT (p.Val1283Lysfs) | CVC (41) | Not |
5348 | HCBNRH | BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) | BC (68) | Not |
6031 | HCBNRH | BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) | BC (66) | Not |
6032 | HCBNRH | BRCA1 c.3228_3229delAG (p.Gly1077Alafs)BRCA1 c.3228_3229delAG (p.Gly1077Alafs) | OC (55) | Not |
6207 | HCBNRH | BRCA1 c.697_698delGT (p.Val233Asnfs)BRCA1 c.697_698delGT (p.Val233Asnfs) | BC (47) | Not |
8085 | HCBNRH | BRCA1 c.3228_3229delAG (p.Gly1077Alafs)BRCA1 c.3228_3229delAG (p.Gly1077Alafs) | BC (55), CC (66) | Not |
11,717 | HCBNRH | BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) | BC(42,57) | Not |
12,470 | HCBNRH | BRCA1 c.3178G > T (p.Glu1060Ter) | BC (39) | Not |
13,023 | HCBNRH | BRCA2 c.5217_5223delTTTAAGT (p.Tyr1739Terfs) | BC (59) | Not |
15,529 | HCBNRH | BRCA2 c.4821_4823delTGAins | BC (48) | Not |
22,325 | HCBNRH | BRCA1 c.5047G > T (p.Glu1683Ter) | BC (45) | Not |
1,100,948 | UM | BRCA2 c.6591_6592delTG (p.Glu2198Asnfs) | BC (44) | BRCA2 c.9382C > T (p.Arg3128Ter) |
12,010,643 | UM | BRCA2 c.7360delA (p.Ile2454Phefs) | BC (56) | MUTYH c.1178G > A (p.Gly393Asp) |
75,443 | UM | BRCA2 c.5909C > A (p.Ser1970Ter) | BC (55) | Not |
88,295 | UM | BRCA2 c.7977-1G > C | BC (44) | Not |
64,949 | UM | BRCA2 c.5909C > A (p.Ser1970Ter) | BC (55) | Not |
67,723 | UM | BRCA2 c.4866delA p.(Arg1622Serfs*14) | BC (46) | Not |
84,510 | UM | BRCA2 c.5946delT (p.Ser1982Argfs) | BC (67) | Not |
13,007,862 | UM | BRCA2 c.5909C > A (p.Ser1970Ter) | BC (31) | Not |
9,009,462 | UM | BRCA2 c.6535_6536insA (p.Val2179Aspfs) | BC (67) | Not |
900,178 | UM | BRCA2 c.1889delC (p.Thr630Asnfs) | BC (49,77) | Not |
10,005,829 | UM | BRCA2 c.9541_9554del p.(Met318CysfsTer13) | BC (38) | Not |
10,007,016 | UM | BRCA2 c.632-1G > A | BC (51) | Not |
10,003,959 | UM | BRCA2 c.6275_6276delTT (p.Leu2092Profs) | BC (55) | Not |
12,852 | UM | BRCA2 c.1929delG (p.Arg645Glufs) | BC (56) | Not |
12,001,161 | UM | BRCA2 c.7958 T > C (p.Leu2653Pro) | BC (67) | Not |
13,017,067 | UM | BRCA2 c.755_758delACAG (p.Asp252Valfs) | BC (74) | Not |
688 | UM | BRCA2 c.1929delG (p.Arg645Glufs) | BC (32) | Not |
40,540 | UM | BRCA2 c.8535_8538delAGAG p.(Glu2846LysfsTer16) | BC (69) | Not |
9,001,644 | UM | BRCA2 c.4965C > G (p.Tyr1655Ter) | BC (39, 45) | Not |
89,205 | UM | BRCA2 c.5946delT (p.Ser1982Argfs) | BC (77) | Not |
10,002,068 | UM | BRCA2 del exons 14–16 | BC (37) | Not |
10,004,590 | UM | BRCA2 c.2672dupT | BC (67,67) | Not |
40,286 | UM | BRCA2 c.7069_7070delCT p.(Leu2357ValfsTer2) | BC (36,53) | Not |
76,618 | UM | BRCA2 c.4478_4481delAAAG (p.Glu1493Valfs) | BC (51) | Not |
12,015,576 | UM | BRCA2 c.9382C > T (p.Arg3128Ter) | BC (45) | Not |
61,420 | UM | BRCA2 c.5350_5351delAA p.(Asn1784HisfsTer2) | BC (59) | Not |
960,579 | UM | BRCA2 c.2808_2811del4 (p.Ala938Profs) | BC (39) | Not |
14,965 | UM | BRCA2 c.5682C > G p.(Tyr1894Ter) | BC (59) | Not |
20,468 | UM | BRCA2 c.6275_6276delTT (p.Leu2092Profs) | BC (38) | Not |
56,193 | UM | BRCA2 c.7884dupA (p.Trp2629Metfs) | BC (79) | Not |